Patient registries are databases that contain information about individuals affected by a particular condition. Most registries focus on the information that is needed to find patients eligible for clinical trials, but they have many other benefits. The information they contain can help clinicians develop care standards and patients can link to the research community and have the opportunity to access information directly relevant for their condition. It should be noted that submitting your data to any of the registries does not mean that you are obliged to enrol in clinical trials; it just gives you the option of taking part.
In recent years, TREAT-NMD, a network of excellence funded by the European Union, has been a driving force for the establishment of patient registries. It aims to stimulate the development of national registries in each country which are then combined into a global registry.
To register, patients (or their parents/carers) usually answer questions about their symptoms and family history through an online system. You can find the web addresses for the currently available registries listed below. If you have limited access to the internet, most registries have a phone number you can call to request a paper copy of the form to be sent to you.
When registering you might also be asked for consent to release your medical records so that information such as the genetic diagnosis can be added to the registry. A curator is employed to make sure the information in the registry is accurate and up-to-date.
Find your registry
Please click on the name of the condition to read further information about the UK or global registry for that condition. More information on country-specific registries can be found on the TREAT-NMD website.
For ultra-rare conditions such as the congenital muscular dystrophies (CMD) a slightly different approach is being pursued. These groups of conditions are very mixed and although clinically diagnosed as one disease, they can be caused by mutations in a number of different genes. Some forms within these groups are ultra-rare with less than 10 known affected individuals in the UK, so international registries are being set up without the intermediate step of national registries.
Muscular Dystrophy UK has formed a partnership with the American patient organisation CureCMD to support the international congenital muscular dystrophy registry (CMDIR).
The CMDIR is for the many different types of congenital muscular dystrophy, some types of limb girdle muscular dystrophy (LGMD2K, LGMD2I, LGMD2L and LGMD2N), congenital myopathies and congenital myasthenic syndrome .
Find out more and register with the CMDIR.
National and global registries have been developed for Duchenne and Becker muscular dystrophies with the global registry now including more than 10,000 patients from over 40 countries. People with Duchenne or Becker muscular dystrophy can register with the UK DMD Registry which is managed by Action Duchenne. For more information about the registry you can phone 0208 556 9955.
The UK FSHD registry is funded by Muscular Dystrophy UK and was launched in May 2013. The registry is curated by the TREAT-NMD team at Newcastle University. You can find out more about the registry and register at the UK FSHD Patient Registry website.
For additional assistance you can email firstname.lastname@example.org or phone the Registry Curator, Libby Wood on 0191 2418640.
A registry for people with hereditary inclusion body myopathy (also known as GNE myopathy, Nonaka disease, Quadriceps-sparing myopathy or distal myopathy with rimmed vacuoles) is available for people around the world. The registry has been developed by a team at Newcastle University with support from Treat-NMD.
People wishing to find out more about the registry can visit the website here.
The Global FKRP (Fukutin-Related Protein) registry collects data from patients worldwide affected by a mutation in the FKRP gene. Most patients with this type of mutation have a type of limb girdle muscular dystrophy known as type 2I (LGMD2I), but FKRP mutations may also cause a form of congenital muscular dystrophy (CMD) known as MDC1C, and in rare instances the diseases known as Muscle Eye Brain (MEB) disease and Walker-Warburg Syndrome (WWS).
Find out more and register with the International FKRP registry. Or you can phone (+44) 0191 241 8605 or email email@example.com.
Both limb girdle muscular dystrophy type 2B (LGMD2B) and miyoshi myopathy are caused by mutations in a gene called dysferlin (DYSF). The dysferlin registry which is supported by an international collaboration including Treat-NMD, will collect information from patients worldwide with these condition.
For further information, or to register please visit the registry’s website.
Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in a gene called calpain-3 (CAPN3). The LGMD2A registry is managed by an organisation called Coalition to Cure Calpain 3.
For further information, or to register, please visit the registry’s website.
Muscular Dystrophy UK has formed a partnership with the Myotonic Dystrophy Support Group to develop a national registry for myotonic dystrophy. Since the start of 2012, the partnership has funded the post of a database curator based in Newcastle, and the registry launched in spring 2012.
Find out more about the registry and register with the UK Myotonic Dystrophy Patient Registry. For additional assistance you can phone the Registry Curator, Libby Wood on 0191 2418640 or email her at firstname.lastname@example.org.
The Myotubular and Centronuclear Myopathy Patient Registry, an international disease specific registry was launched in 2013 for the myotubular and centronuclear myopathies. The registry is a joint venture between The Myotubular Trust and TREAT-NMD who developed the registry in consultation with both affected families and European researchers.
The registry collects genetic and medical information on all affected individuals and also on carrier females. It is available in English, French, German, Italian and Spanish. You can find out more information or join at http://www.mtmcnmregistry.org or email the Curator at email@example.com
National and global registries have been developed for spinal muscular atrophy. More than 2000 patients have been entered into the global registry for spinal muscular atrophy from at least 33 national registries.
Find out more and register with the UK spinal muscular atrophy registry which is managed by TREAT-NMD and co-sponsored by the Jennifer Trust . Or you can phone 0191 241 8640.
Frequently asked questions about registries
For more information about patient registries, including information about how personal data in the registries is protected, please read our Frequently asked questions about patient registries page.
Muscular Dystrophy UK is providing support for patient registries so that clinical trials can get underway quickly and patients in the UK don’t miss out on opportunities to take part. We are currently funding two registries in the UK, and we plan to support more registries in the future. It is only through your contributions that we can fund these vital registries. Donate now and join us in supporting these registries.
Any questions can be emailed to the MDUK Research team at firstname.lastname@example.org