What are patient registries?
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.
How to register
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.
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.
The Muscular Dystrophy Campaign 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 the setting up of two new 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.
Please click on the name of the condition to read further information about that registry.
Registries that are currently available in the UK are for the following conditions:
- Duchenne and Becker muscular dystrophies
- Spinal muscular atrophy (SMA)
- Congenital muscular dystrophies and myopathies
- Limb girdle muscular dystrophy type 2I and congenital muscular dystrophy type 1C (conditions caused by mutations in the FKRP gene)
- Limb girdle muscular dystrophy type 2B and miyoshi myopathy (conditions caused by mutations in the dysferlin gene).
- Myotonic dystrophy type 1
- Facioscapulohumeral muscular dystrophy (FSHD)
Registries for the following conditions are coming soon:
Registries currently available
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.
Find out more and register with the UK DMD Registry which is managed by Action Duchenne. Or you can phone 0208 556 9955.
Information about Duchenne and Becker registries in other countries can be found on the TREAT-NMD website.
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.
Information about SMA registries in other countries 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.
The Muscular Dystrophy Campaign 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) and also includes all types of congenital myopathy.
Limb girdle muscular dystrophy type 2I and congenital muscular dystrophy type 1C (conditions caused by mutations in the FKRP gene)
The International 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 8640.
Limb girdle muscular dystrophy type 2B and miyoshi myopathy (conditions caused by mutations in the dysferlin gene).
Both limb girdle muscular dystrophy type 2B (LGMD2B) and miyoshi myopathy are caused by mutations in a gene called dysferlin and data will be collected in the International Dysferlinopathy Registry which is currently under development. The launch date worldwide is in early 2012. In the meantime you can register with the Jain Foundation's patient registry.
The Muscular Dystrophy Campaign 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.
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.
Information about myotonic dystrophy registries in other countries can be found on the TREAT-NMD website.
The UK FSHD registry is funded by the muscular dystrophy 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 phone the Registry Curator, Libby Wood on 0191 2418640. Information about FSH muscular dystrophy registries in other countries can be found on the TREAT-NMD website.
Registries coming soon
This disease specific registry is a joint venture between TREAT-NMD, University College London and The Myotubular Trust. It has been developed in consultation with both affected families and European researchers, and is for patients in the UK and continental Europe. If you would like to be notified of its launch, please email the Myotubular Trust for a pre-registration form: email@example.com.
The Muscular Dystrophy Campaign is working with the Myasthenia Gravis Association and Myasthenia Kids to establish an international registry for congenital myasthenic syndromes.
If you have any questions or you can't find your condition listed above but would be interested in knowing whether a registry is planned for you, please contact the Muscular Dystrophy Campaign's dedicated research information service:
Phone Kristina on 020 7803 4813