Article about Tarlov Cysts including the references from Various Drs

Hi everyone i discovered earlier when I tried to copy and paste paragraphs from the article about Tarlov Cyst and Infertility, than when I copied and pasted to share instead of numbers to the references of Drs the explanation of their reference were there to read , This article I shared earlier through the link, I took time and deleted the numbers of references It makes for interesting reading and offers a lot more insight into the various Drs Opinions,and more insight in this rare disease  its from 2009 when reading through the lines and numbers you get more information, right under this Im going to Post the sentences and words I deleted, so you will understand what I mean, also the Link to the article itself Love Sharon xx soft hugs xx Its a long post but valuable information make yourself a cuppa

J Spinal Cord Med. 2009 April; 32(2): 191–197.

PMCID: PMC2678291

Tarlov Cyst and Infertility

Pankaj Kumar Singh, MBBS, MS,¹ Vinay Kumar Singh, D Orth, MRCS,² Amir Azam, MS, MRCS,³ and Sanjeev Gupta, MS, MCh⁴DISCUSSION

The first methodical description of perineurial cysts of the spinal region is credited to Isadore M. Tarlov during his postmortem study of filum terminale Tarlov initially thought these cysts were entirely incidental and asymptomatic, but a decade later in 1948, he realized the causal relationship between the sacral perineurial cysts and sciatica after operating on a woman with this condition. The most common location in the spine is the sacral region, with the S2/S3 nerve roots most commonly affected  The symptomatic Tarlov cysts are exceedingly rare  and only one fifth present clinically . Depending on size and location, Tarlov cysts may cause a variety of symptoms ranging from backache, perineal pain or sciatica to frank cauda equina syndrome Symptoms are mostly exacerbated by maneuvers that elevate CSF pressure, such as coughing, walking, changing posture, and the Valsalva maneuver  Exacerbation of symptoms after these maneuvers can be explained on the basis of CSF being forced into the cysts with increased spinal subarachnoid pressure  Because of close proximity to the dorsal root ganglion, they mostly produce sensory sign symptoms with normal motor nerve conduction  A number of urologic symptoms are also described including dysuria, incontinence, and neurogenic bladderThe absence of urinary incontinence in this patient can be explained on the basis of normal bladder anatomy and physiology. Urinary continence depends on a functioning of bladder neck, as well as the external urinary sphincter. The bladder neck is under sympathetic control delivered through the inferior hypogastric plexus, whereas the external urinary sphincter is parasympathetically controlled, supplied by the pudendal nerve. The ejaculatory ducts open in the prostatic urethra, lying between the bladder neck and the external sphincter . If pathology selectively involves the inferior hypogastric nerves interfering with the normal bladder neck integrity but leaving the external urinary sphincter intact, retrograde ejaculation can occur without urinary incontinenceSpinal perineurial cysts warrant a thorough work-up to determine the exact location, size, relationship with spinal nerve roots, and multiplicity. Plain radiographs and CT scans can be useful in picking up the underlying bony erosions. Contrast-enhanced myelograms give a characteristic appearance of delayed filling of Tarlov cysts with contrast medium  and can be particularly useful in differentiating Tarlov cysts from other meningeal diverticula  Because of better soft tissue resolution, MRI is the preferred imaging method In MRI, Tarlov cysts show CSF-like characteristics and therefore are hypointense in T1-weighted images and hyperintense in T2-weighted sequencesThe natural history of symptomatic Tarlov cysts is progressive enlargement and eventually clinical deterioration. The ball-valve mechanism has been proposed as an underlying factor responsible for the enlargement of these cysts  Mummaneni et al lone. Medical management should consist of analgesics, anti-inflammatory medications, and physiotherapy. Surgery can be avoided in individuals who respond to conservative measures. Active management should be offered to patients who fail to respond to medical management or who develop new symptoms. The active management plan can broadly be divided into nonsurgical and surgical methods. Drainage of CSF either by a permanent lumboperitoneal shunt  or percutaneous CT-guided aspiration ) have been tried with variable results but have not been approved universally. Recurrence within a few months remains the rule in most patients after CT-guided aspiration  Mixed results were obtained with CT-guided instillation of fibrin glue into recurrent cysts. However, because of high rates of aseptic meningitis associated with the procedure, it is not usually recommended Appropriate patient selection remains the mainstay of surgical treatment in sacral perineurial cysts. To choose the right surgical candidate, the basic approach is to decide whether the symptoms can be attributed to the cyst in the first place. The chances of cure will obviously be higher when a definitive causal relationship can be established. The neurosurgical techniques used for the treatment of Tarlov cysts include bony decompression alone, cautery of the cyst wall, complete excision of the cyst along with the nerve root involved, cyst fenestration, and imbrication or oversewing of the cyst wall . Tarlov proposed the excision of cysts along with the involved nerve root. The morbidity produced by the procedure, however, is high enough not to justify its use . Simple decompressive laminectomy has a low success rate It has been observed that some symptoms respond better to surgical excision than others. Coccydynia, dyspareunia, perineal pain, and urinary symptoms are claimed to be specifically curable by Tanaka et al  In contrast, they found sciatica and lumbago poorly relieved by surgery. However, quite the contrary, some authors including Tarlov himself  found backache and sciatica resolving quickly after surgery, whereas urinary symptoms showing only partial improvement. Voyadzis et al  suggested that the surgical excision of symptomatic Tarlov cysts more than 1.5 cm in diameter carries a favorable prognosis. Tanaka et al  also proposed large cyst size and a positive filling defect on myelography as indicators of good surgical outcome. Mummaneni et al  proposed that patients whose symptoms are exacerbated by postural changes or Valsalva maneuvers are more likely to benefit from microsurgery. However, there is some controversy regarding the surgical results for different symptoms. We found that, as cysts have an the inherent property of enlargement with time  it is reasonable to operate on patients presenting with progressive symptoms. Surgical indications are obviously less clear in cases such as cauda equina. Because some authors report partial resolution of urologic symptoms with time , we suggest that these cases should have a surgical consultation sooner than later. Retrograde ejaculation and infertility may be the rare presentations of sacral Tarlov cyst of the cauda equina region; it is difficult to draw conclusions regarding outcomes based on a single case. Even after surgery, the sperm count and the seminal volume remained far lower than the optimal values required for natural conception  ultimately necessitating assisted fertilization Two techniques of laminectomy have been described by Tanaka et al  recapping laminectomy and simple laminectomy. Mummaneni et al recommended microsurgical cyst fenestration and imbrication as effective treatment. Imbrication of cyst wall is preferred over a total excision because the latter has a high risk of neural damage  After exposing the sacral nerve roots by laminectomy, the cysts can be fenestrated with a scalpel to drain the fluid contents. It has been observed  that the nerve roots are mostly located ventrally or laterally to cyst rather than dorsally within the cyst. Microdissection should be used to push any dorsally positioned nerve root fibers into the floor of the foramen Intraoperative physiologic monitoring can be a useful adjunct at this stage in minimizing damage to the neural tissue The nerve root sleeve can be imbricated, followed by a watertight dural closure. The need for a watertight dural closure is emphasized by most authors. It can be achieved by a primary dural closure using a fine non absorbable suture, as in our case, or by dural grafts. The closure can further be reinforced with epidural fat or muscle grafts and fibrin glue application The muscle or fat graft can also prevent CSF reaccumulation within the cysts by creating a mechanical pressure Mummaneni et al  recommended the use of postoperative lumber drains in patients who showed communication between the cyst and spinal subarachnoid space in CT myelograms. Tanaka et al  achieved very good results with a success rate of 83% by using imbrication and resection of cysts. Radicular pain was markedly improved in 50% of the patients in the series of Mummaneni et al . The remainder of the patients also showed moderate symptomatic relief but still needed analgesics for pain control Whereas a spinal perineurial cyst predominantly remains an incidental finding, because of its tendency to enlarge with time, patients should be informed of the possibility of developing symptoms later in life. However, that does not mean that all Tarlov cysts should be monitored; if the patient becomes symptomatic, imaging should be repeated at appropriate intervals. After an MRI, a CT myelogram should be performed to confirm the communication between the cyst and subarachnoid space and the filling-defect sign. In the light of good surgical results, early microsurgical resection should be considered, especially in patients with progressive symptoms. A surgical decision should be based on symptomatic progression, cyst size of more than 1.5 cm, and a positive filling-defect sign in myelography. Patients showing exacerbation of symptoms after Valsalva maneuver are also good surgical candidates. Electrophysiologic monitoring is imperative in minimizing the damage to sacral nerve roots. 

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CONCLUSION

Most Tarlov cysts are discovered incidentally and are asymptomatic in nature. However, because of their natural tendency to increase in size with time, they may become symptomatic later in life. . Microsurgical excision may benefit patients with progressive symptoms caused by Tarlov cysts.         

 DISCUSSION

The first methodical description of perineurial cysts of the spinal region is credited to Isadore M. Tarlov during his postmortem study of filum terminale. At the time of initial discovery, the main differential diagnosis of these cysts remained meningeal diverticula and long arachnoid prolongations. Tarlov (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control1,The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control4,The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control5) distinguished among these lesions on the basis of 3 main features: (a) communication with the spinal subarachnoid space, (b) location in relation with dorsal root ganglion, and (c) histopathologic composition. Whereas meningeal diverticula and long arachnoid diverticula communicate freely with the spinal subarachnoid space, Tarlov cysts have only a potential communication. This difference in communication explains the delayed filling of Tarlov cysts in myelograms contrary to the rapid filling of the other 2 lesions. The second differentiating point was the location of these cysts (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control4). Tarlov cysts are mostly found at/or distal to the junction of the posterior nerve root and dorsal root ganglion in the sacral region. Meningeal diverticula, on the other hand, develop proximal to the dorsal root ganglion throughout the vertebral column. The third distinguishing feature was the histologic composition of these cysts. The wall of Tarlov cyst contains nerve fibers, whereas the meningeal diverticula have a wall lined by arachnoid mater with no evidence of a neural element. Most authors including Tarlov himself (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control1,The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control4–The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control9) agreed that the most important distinguishing feature of the perineurial cyst is the presence of nerve root fibers in the cyst wall.

In an attempt to clarify the matter further, Goyal et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control7) and Nabros et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control8) presented 2 simplified classification systems of spinal cysts. According to Goyal et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control7), Tarlov cysts or perineurial cysts are defined as cysts formed within the nerve root sheath at dorsal root ganglion. Nabros et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control8) classified spinal cysts in 3 types. Type I are extradural meningeal cysts without nerve root fibers. Type II lesions correspond to Tarlov cysts and are defined as extradural meningeal cysts with nerve fibers. Type III contains intradural meningeal cysts.

The exact etiology of sacral perineurial cysts remains a matter of debate, and different theories have been proposed. Tarlov himself believed that hemosiderin deposition caused by blockage of venous drainage of the perineurium and epineurium after local trauma leads to the development of these cysts (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control5). Fortura et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control10) proposed congenital arachnoid proliferation along the exiting nerve roots resulting in the formation of sacral perineurial cysts. Paulson et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control3) suggested the ball-valve mechanism whereby the cerebrospinal fluid (CSF) enters the cyst with systolic pulsations but is unable to exit through the same portal during diastole. The same theory is supported by Tanaka et al (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control6) and is thought to be the basis of positive filling defects in computed tomography (CT) myelograms and the increase in size of Tarlov cysts with time. The cyst wall is usually composed of dense, paucicellular collagenous bundles along with well-vascularized loose fibrous tissues. The cysts are often multiple, extending around the circumference of the nerve root. Because of inherent tendency to enlarge with time, the cysts may compress the neighboring nerve roots and may cause bony erosion (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control6).

Tarlov (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control1) initially thought these cysts were entirely incidental and asymptomatic, but a decade later in 1948, he realized the causal relationship between the sacral perineurial cysts and sciatica after operating on a woman with this condition. The most common location in the spine is the sacral region, with the S2/S3 nerve roots most commonly affected (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control11). The symptomatic Tarlov cysts are exceedingly rare (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control3), and only one fifth present clinically (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control3). Depending on size and location, Tarlov cysts may cause a variety of symptoms ranging from backache, perineal pain or sciatica (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control6), to frank cauda equina syndrome (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control12). Symptoms are mostly exacerbated by maneuvers that elevate CSF pressure, such as coughing, walking, changing posture, and the Valsalva maneuver (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control13). Exacerbation of symptoms after these maneuvers can be explained on the basis of CSF being forced into the cysts with increased spinal subarachnoid pressure (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control13). Because of close proximity to the dorsal root ganglion, they mostly produce sensory sign symptoms with normal motor nerve conduction (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control6). A number of urologic symptoms are also described including dysuria, incontinence, and neurogenic bladder (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control2,The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control6,The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control14).

Retrograde ejaculation and infertility, never described before in relation to Tarlov cysts, nonetheless can be viewed in conjunction with the urologic symptoms. Normal antegrade ejaculation (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control15) requires coordinated contractions of the vas deferens and seminal vesicles to propel the semen into the prostatic urethra and closure of bladder neck to prevent backflow of semen. These 2 events occur under sympathetic control. Ejaculation is further assisted by parasympathetically (S2–S4) induced rhythmic contractions of the bulbospongiosus and ischiocavernosus muscles, which expel the semen through the urethral meatus. Common causes of retrograde ejaculation include prostatic surgeries and neuropathies in the elderly and retroperitoneal lymph node dissection (RLND) and spinal cord injury in young fertile men (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control15) (Table 1). Apparently, successful antegrade ejaculation is largely dependent on both sympathetic and parasympathetic drives. Sympathetic efferent nerves, which are responsible for maintaining the integrity of bladder neck, emerge from the T12 to Tl3 segments and pass to the bladder neck through the inferior hypogastric plexus (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control15). Any space-occupying lesion in the sacral region that involves this plexus may impair the bladder neck mechanism. The most common cause of retrograde ejaculation in RPLD is damage to these sympathetic efferent nerves (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control15). The parasympathetic component, which is responsible for contractions of the bulbospongiosus and ischiocavernosus muscles, stems from the S2 to S4 segments (The following popper user interface control may not be accessible. Tab to the next button to revert the control to an accessible version.Destroy user interface control15)  The entire article is below, 

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2678291/

Everyday Hero: Trainer gives K-9, hope and new life | Bay News 9

Everyday Hero: Trainer gives K-9, hope and new life | Bay News 9

Tarlov cyst report about a KP helping a TC Patient amazing to think the word is getting out there slowly but surely xx soft hugs xx

EURORDIS - The voice of Rare Disease Patients in Europe

EURORDIS - The voice of Rare Disease Patients in Europe

EURORDIS-NORD-CORD Joint Declaration of 10 Key Principles for
Rare Disease Patient Registries

1. Patient Registries should be recognised as a global priority in the field of Rare Diseases.
   
2. Rare Disease Patient Registries should encompass the widest geographic scope possible.
   
3. Rare Disease Patient Registries should be centred on a disease or group of diseases rather than a therapeutic intervention.
   
4. Interoperability and harmonization between Rare Disease Patient Registries should be consistently pursued.
   
5. A minimum set of Common Data Elements should be consistently used in all Rare Disease Patient Registries.
   
6. Rare Disease Patient Registries data should be linked with corresponding biobank data.
   
7. Rare Disease Patient Registries should include data directly reported by patients along with data reported by healthcare professionals
   
8. Public-Private Partnerships should be encouraged to ensure sustainability of Rare Disease Patient Registries.
   
9. Patients should be equally involved with other stakeholders in the governance of Rare Disease Patient Registries.
   
10. Rare Disease Patient Registries should serve as key instruments for building and empowering patient communities.
    

Joint Declaration 10 Key Principles of Rare Disease Patient Registries 1

On behalf of an estimated 60 million people living with rare diseases in Europe and North America, the European Organisation for Rare Diseases (EURORDIS), the National Organization for Rare Disorders (NORD) and the Canadian Organization for Rare Disorders (CORD), jointly submit the following declaration on common principles regarding Rare Disease Patient Registries.
EURORDIS, NORD and CORD, along with the patients they represent in Europe and in North America, recognize that Rare Disease Patient Registries constitute key instruments for increasing knowledge on rare diseases, supporting fundamental clinical and epidemiological research, and post-marketing surveillance of orphan drugs and treatments used off-label. Furthermore, and of great importance for patients and their families, they can be instrumental in supporting health and social services planning. Rare Disease Patient Registries are powerful, cost-effective instruments to improve the overall quality of care, quality of life and survival of patients.
EURORDIS, NORD and CORD also recognize that patient involvement is a key element in the successful establishment and long-term maintenance of Rare Disease Patient Registries and many patient groups are already very active and capable in this role. On behalf of rare disease patients and their representatives in Europe and in North America, we would like to jointly put forward the following common reflections and principles regarding patient registries. These common reflections and principles may serve as a reference to all other stakeholders when shaping policies and taking actions in the field of Rare Disease Patient Registries.
A Patient Registry can be defined as an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves a predetermined scientific, clinical, or policy purpose(s)1. The following principles refer to this definition.
1 Gliklich RE, Dreyer NA, eds. Registries for Evaluating Patient Outcomes: A User’s Guide. 2nd ed. Rockville, MD: Agency for Healthcare Research and Quality. September 2010. http://www.effectivehealthcare.ahrq.gov/ehc/products/74/531/Registries%202nd%20ed%20final%20to%20Eisenberg%209-15- 10.pdf.
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 2

1. PatientRegistriesshouldberecognisedasaglobalpriorityinthefieldofRare Diseases.
Rare Disease Patient Registries represent a fundamental research effort upon which a number of critical activities are based. They constitute key instruments for increasing knowledge on rare diseases, by pooling data for epidemiological research, clinical research, and real-life post-marketing observational studies2.
They broadly support health and social service planning by playing a pivotal role in healthcare organization. In particular, Centres of Expertise/Excellence and the European and International networks that connect them centralize patient data patient registries which can be used as an evidence base to shape regional, national and international health policy and standards of care.
It has also been demonstrated that Patient Registries are a major determinant for successful translational research in the field rare diseases. Where well-implemented registries and active patient organizations exist, the likelihood for developing a treatment for the disease in question is increased3. Furthermore, the consistent longitudinal collection of patient data facilitates the creation of standards of care and dramatically improves patient outcomes and life expectancy even in the absence of new therapies. The compelling arguments for Rare Disease Patient Registries as indispensable infrastructure tools for translating basic and clinical research into therapeutic solutions have elevated their status to a major priority for all stakeholders - a building block of any sound rare disease policy.
2. Rare Disease Patient Registries should encompass the widest geographic scope possible.
Due to the low individual prevalence and the scarcity of information related to each rare disease, collaboration and maximum use of limited resources is particularly meaningful for rare diseases. This is especially true for very rare diseases where no single
2 EURORDIS Position on Rare Disease Research. http://www.eurordis.org/publication/eurordis-position-rd-research 3 Orphanet. Report on Rare Disease Research, Its Determinants in Europe and the Way Forward, May 2011. http://asso.orpha.net/RDPlatform/upload/file/RDPlatform_final_report.pdf
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 3

institution, and in many cases no single country, has a sufficient number of patients to conduct fundamental, clinical and translational research. In fact, geographic dispersion of patients continues to make recruitment for clinical trials difficult, often aggravated by the dearth of scientific and medical knowledge and relevant endpoints for study designs. The International Rare Diseases Research Consortium (IRDiRC)4, launched in April 2011, fosters international collaboration in research on RD. Canada, Europe and the United States have fully committed to this endeavour agreeing on the principle that maximizing scarce resources and coordinating research efforts are key elements for success in the rare disease field. IRDiRC advocates that the worldwide sharing of information, data and samples gathered by robust and harmonised Rare Disease Patient Registries will boost research at all levels and ultimately favor therapy development.
3. Rare Disease Patient Registries should be centred on a disease or group of disease rather than a therapeutic intervention.
Treatment-specific registries, frequently funded by industry, are required by regulators to monitor the effectiveness and side-effects of treatments approved under exceptional circumstances. However, because treatment-specific registries must be re-created for each product, limitations in their completeness, quality, and cost-effectiveness have been demonstrated. Consensus is growing around the opinion that disease-centric patient registries provide a more comprehensive and collaborative approach to rare disease patient data collection by aligning stakeholder efforts, avoiding fragmentation of patient populations and dissipation of resources, and ultimately addressing regulatory and payer requirements with greater accuracy.
4. Interoperability and harmonization between Rare Disease Patient Registries should be consistently pursued.
Centres of Expertise/Excellence and the international networks that connect them play a pivotal role in capturing data of patients treated at their facilities and centralizing them in Rare Disease Patient Registries. Nevertheless, no uniform, accepted standards
4 International Rare Disease Research Consortium. http://ec.europa.eu/research/health/medical-research/rare- diseases/irdirc_en.html
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 4

currently govern the collection, organization, or availability of data collected by Rare Disease Patient Registries which may even vary within the same disease group or health system. Moreover, registry custodians frequently hold proprietary views on their data or face legal limitations on data-sharing as a result of patient consent restrictions and privacy protection or conflicting national legislations. These data-sharing barriers create a compelling argument for developing globally accepted definitions, classifications, ontologies5,6, data standards and favourable and congruent policies and resources facilitating data sharing and pooling. Ideally, standard operating procedures and common resources or platforms for centralizing new or existing registries should be developed.
5. A minimum set of Common Data Elements should be consistently used in all Rare Disease Patient Registries.
A pillar for the systematic, coordinated approach to Rare Disease Patient Registries would be the definition of minimum set of Common Data Elements (CDEs) and corresponding validated standards and ontologies globally endorsed by all stakeholders. The consistent use of CDEs would facilitate the standardization of data (ensuring that data are defined and entered in the same way, use the same standards, and the same vocabularies), harmonization (allowing data to be more easily exchanged and compared), and interoperability (enabling common strategies for quality assurance and data security). Lastly, the definition of CDEs will allow greater opportunities for meta- analysis across diseases providing evidence for public health and social planning. The NIH Office of Rare Disease Research7 and EPIRARE8 are currently establishing such CDEs for North America and Europe.
5 Disease ontology refers to a consistent, reusable and sustainable set of descriptions that defines human disease terms, phenotypic/genotypic characteristics and related medical vocabulary. Common disease ontologies are needed to ensure both shared understanding between people and interoperability between information systems about diseases. Common ontologies are particularly important for rare diseases as exiting vocabulary (disease definition, diagnosis, phenotype/genotype) describing many of them is still incomplete and inconsistent.
6 Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S (2012) Representation
of rare diseases in health information systems: The orphanet approach to serve a wide
range of end users. Hum Mutat 33:803-8. http://onlinelibrary.wiley.com/doi/10.1002/humu.22078/pdf
7 NIH Office of Rare Disease Research. Common Data Elements. http://www.grdr.info/files/ORDR_CDE_10_2_2012.xls 8 European Platform for Rare Disease Registries (EPIRARE). http://www.epirare.eu/
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 5

6. Rare Disease Patient Registries data should be linked with corresponding biobank data.
Biobanks are collections of human biomaterials and represent an essential tool for fundamental and translational research. The high value of biological samples only increases when coupled with well-documented, associated data housed in a patient registry. The development of a system that assigns a unique global identifier to each patient is recommended to facilitate data linkage and avoid duplicate entries and waste of precious biomaterial. Engagement of patients and patient organizations is instrumental for the development of networks between registries and biobanks.
7. Rare Disease Patient Registries should include data directly reported by patients along with data reported by healthcare professionals.
Many patient organizations in Europe and North America are actively and successfully collecting clinical and non-clinical patient data. Most stakeholders in the rare disease community recognized that patients and their caregivers are best placed to report on their health-related quality of life, satisfaction with and utility of care and treatment. Much progress has been made in creating regulatory standards9,10 to validate this type of data reported by patients and caregivers, which are also of significant benefit to patients’ management of their own outcomes.
Out of necessity, patient groups further proceeded to collect data beyond perceived outcomes and collect post-marketing treatment outcomes, off-label drug use outcomes and even natural history data. By complementing clinician-reported data in Rare Disease Patient Registries, patients can contribute to improving their robustness, comprehensiveness and quality. Continued creation of easily accessible and validated standards, platforms and scientific guidance to ensure the high quality collection of patient entered clinical data should be encouraged and guaranteed.
9 US Food and Drug Administration.
http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM193282.pdf
10 European Medicines Agency.
http://www.ema.europa.eu/ema/pages/includes/document/open_document.jsp?webContentId=WC500003637
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 6

8. Public-private partnerships should be encouraged to ensure sustainability of Rare Disease Patient Registries.
In context of the current economic climate, the need for the optimal sharing of resources is an imperative. Different scenarios are being proposed to provide financial sustainability to registries and their networks, and the most promising rely on the collaboration amongst all the stakeholders11,12. This collaborative approach has been recognized as a requirement to: avoid duplication of efforts and take advantage of economies of scale; foster improved quality and robustness of data collected; to unify patient data especially for diseases where several treatments exist, and best sustain registries as long-term endeavours. With both governments and private groups showing interest in patient registries, public-private partnerships are a promising collaborative scheme. Patient groups can be instrumental facilitators of public-private partnerships driving the common goals of all stakeholders through a patient-centred approach and assuring optimal efficiency and transparency. Regulatory bodies can strongly encourage such collaboration in this pre-competitive space. The nature of potential public-private partnerships, the issues to consider when establishing such a partnership, and best practices enhancing the success of such efforts should be investigated in a prompt and transparent manner.
9. Patients should be equally involved with other stakeholders in the governance of Rare Disease Patient Registries.
Patient involvement is a key element in the successful establishment of registries and many patient groups are already very active in this role. Patients should be involved at all levels of development, management and maintenance in order to best represent patient needs, increase awareness among all stakeholders of the existence of the registry and, ultimately, improving the quality and quantity of data collected through a patient-centred approach. Patient groups are willing and able to be involved in initiating the establishment of registries; defining content and purposes of the registries; resolving
11 NIH/FDA Workshop on Natural History Studies of Rare Diseases.
https://events-support.com/events/Natural_History_Studies
12 EUCERD Workshop of Public-Private Partnerships for RD Registries.
Joint Declaration 10 Key Principles of Rare Disease Patient Registries 7

ethical and legal issues; authorising access and utilisation of data; creating partnerships with health professionals and industry representatives; contributing to the selection of data items collected (in particular on the impact of the disease on their daily life); helping to recruit patients for participation into the registry; preparing specific information for patients to be registered prior to their consent; motivating health professionals to input data, and directly entering data. This essential role of the patients should be reflected in the governance of the registry.
10. Rare Disease Patient Registries should serve as key instruments to build and empower patient communities.
Registries can be instrumental in building patient communities around a disease, a cluster of diseases or even common clinical features or common underlying causes. Registries thus become the aggregation point around which an organised patient community can be built where none exists. The creation of a patient registry can facilitate the congregation of patients and their families as they engage directly into the development of the very databases in which their data will be entered. Registries thus become the medical home for patients scattered internationally and empower patients with data available to share with health care professionals, clinical researchers and drug developers.

Joint Declaration 10 Key Principles of Rare Disease Patient Registries 

EURORDIS - The voice of Rare Disease Patients in Europe

EURORDIS - The voice of Rare Disease Patients in 

EUCERD Recommendations for rare disease registries encourage interoperability

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The European Union Committee of Experts on Rare Diseases (EUCERD) adopted a set of Core Recommendations on Rare Disease Patient Registration and Data Collection at its eighth meeting, held in early June 2013. Rare Disease registries are valuable instruments for increasing knowledge on rare diseases, and for supporting fundamental, clinical and epidemiological research, as well as for post-marketing surveillance of orphan medicinal products and medicines used off-label. For people living with a rare disease, as well as for national competent authorities, registries are instrumental in supporting health and social services planning.

The EUCERD Recommendations call for international operability of registries and data bases in order for knowledge and data to be pooled and shared. Rare diseases suffer from fragmented knowledge, scattered expertise and patients, and research duplication. Interoperability on a global scale would enable data to be sufficiently pooled to “reach sufficient statistically significant numbers for clinical research and public health purposes”. Using international coding and nomenclature, minimum common data sets, and good practice guidelines would enhance interoperability and maximise the utility of registries and databases.

The involvement of all stakeholders, including patients, policymakers, researchers, clinicians, and industry in designing, maintaining and governing registries is also called for. Collected data needs to be available to the benefit of public health and research and adaptable for regulatory purposes, including post-marketing surveillance of treatments and observational real life studies. Finally, registries and databases must be financially sustainable. 

The publications upon which the EUCERD Recommendation is based include the Joint Declaration of 10 Key Principles for Rare Disease Patient Registries issued by EURORDIS in conjunction with the Canadian Organization of Rare Disorders (CORD) and the National Organization for Rare Disorders (NORD). Other publications include the Reports from previous Workshops of the EUCERD, including one organised by the EUCERD Joint Action in the autumn of 2012, and one jointly organised with the European Medicine Agency (EMA) entitled Towards a Public-Private Partnership for Registries in the Field of Rare Diseases in autumn 2011, which included as a central element the perspective of patient representatives.

Other important sources informing the EUCERD Recommendations include the results of the EPIRARE Rare Disease Registry surveys conducted by EURORDIS for patients – 4000 answers from patients & parents – and by the Istituto Superiore di Sanità for registry managers within the three-year European Platform for Rare Disease Registries (EPIRARE) project.

A Drs View of Patients with a chronic disease

A Doctor’s View of Patients with Chronic Disease

As scary and frustrating as it can be to have a chronic disease, especially chronic pain, it is often equally frightening and concerning for the providers who care for such patients. One practitioner offers some compassionate viewpoints on what it is like to care for patients with chronic disorders and provides some helpful advice. See letter here.

Dear Patients:

You have it very hard, much harder than most people understand. Having sat for 16 years listening to the stories, seeing the tiredness in your eyes, hearing you try to describe the indescribable, I have come to understand that I too can’t understand what your lives are like.

How do you answer the question, “how do you feel?” when you’ve forgotten what “normal” feels like? How do you deal with all of the people who think you are exaggerating your pain, your emotions, your fatigue? How do you decide when to believe them or when to trust your own body? How do you cope with living a life that won’t let you forget about your frailty, your limits, your mortality? I can’t imagine.

But I do bring something to the table that you may not know. I do have information that you can’t really understand because of your unique perspective, your battered world. There is something that you need to understand that, while it won’t undo your pain, make your fatigue go away, or lift your emotions, it will help you. It’s information without which you bring yourself more pain than you need suffer; it’s a truth that is a key to getting the help you need much easier than you have in the past. It may not seem important, but trust me, it is.

You scare doctors. No, I am not talking about the fear of disease, pain, or death. I am not talking about doctors being afraid of the limits of their knowledge. I am talking about your understanding of a fact that everyone else seems to miss, a fact that many doctors hide from: we are normal, fallible people who happen to doctor for a job.

We are not special. In fact, many of us are very insecure, wanting to feel the affirmation of people who get better, hearing the praise of those we help. We want to cure disease, to save lives, to be the helping hand, the right person in the right place at the right time.

But chronic unsolvable disease stands square in our way. You don’t get better, and it makes many of us frustrated, and it makes some of us mad at you. We don’t want to face things we can’t fix because it shows our limits. We want the miraculous, and you deny us that chance.

And since this is the perspective you have when you see doctors, your view of them is quite different. You see us getting frustrated. You see us when we feel like giving up. When we take care of you, we have to leave behind the illusion of control, of power over disease. We get angry, feel insecure, and want to move on to a patient who we can fix, save, or impress. You are the rock that proves how easily the ship can be sunk. So your view of doctors is quite different.

Then there is the fact that you also possess something that is usually our domain: knowledge. You know more about your disease than many of us do — most of us do. Your MS, rheumatoid arthritis, end-stage kidney disease, Cushing’s disease, bipolar disorder, chronic pain disorder, brittle diabetes, or disabling psychiatric disorder — your defining pain — is something most of us don’t regularly encounter. It’s something most of us try to avoid.

So you possess deep understanding of something that many doctors don’t possess. Even doctors who specialize in your disorder don’t share the kind of knowledge you can only get through living with a disease. It’s like a parent’s knowledge of their child versus that of a pediatrician. They may have breadth of knowledge, but you have depth of knowledge that no doctor can possess.

So when you approach a doctor — especially one you’ve never met before — you come with a knowledge of your disease that they don’t have, and a knowledge of the doctor’s limitations that few other patients have. You see why you scare doctors?

It’s not your fault that you do, but ignoring this fact will limit the help you can only get from them. I know this because, just like you know your disease better than any doctor, I know what being a doctor feels like more than any patient could ever understand. You encounter doctors intermittently (more than you wish, perhaps); I live as a doctor continuously.

So let me be so bold as to give you advice on dealing with doctors. There are some things you can do to make things easier, and others that can sabotage any hope of a good relationship:

click the link above for the tips in the Letter