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Patient registries

Patient registries and clinical trials

If you are considering taking part in a clinical trial, we recommend registering your interest with your neurologist and reminding him or her regularly.
Sometimes it’s possible to directly contact the centre involved in the clinical study. The centre will then get in touch with your neurologist, whose involvement is essential.

It is also important to join a registry if they are available for your condition. Registries are databases that contain information about individuals affected by a particular condition. With permission, researchers and companies can view this information and recruit eligible patients for trials. The information registries contain can also help clinicians to understand more about the condition and develop care standards. Some registries send out regular newsletters updating patients on research and other relevant information.

Submitting your data to a registry does not mean that you are obliged to enrol in clinical trials; it just gives you the option of taking part.

For more information about patient registries, including how personal data in the registries is protected, please read our Patient Registries FAQs.

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.

Charcot-Marie-Tooth disease

UK CMT Research Database is a national data repository aiding ongoing research to improve understanding of and finding new treatments for Charcot-Marie-Tooth Disease. The database is open to all adults and children with CMT in the UK.

To register on the database, individuals with CMT or their responsible guardian should use this link to be taken to the database. The database including consent process is all available via the link and does not require direct input from a clinician. By participating, individuals will be kept updated on potential research opportunities that they can volunteer for, including questionnaire studies or clinical trials.

Treating clinicians may be contacted by the database manager to obtain or confirm clinical and genetic information required to enrol on the database.

The purpose of the database is to create a central registry of UK patients with CMT who are willing to be contacted for future research and clinical trials.

Get in touch: uk.cmt.researchdatabase@ucl.ac.uk

Congenital muscular dystrophies, congenital myopathies and congenital myasthenic syndrome

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.

Duchenne and Becker muscular dystrophies

National registries have been developed for Duchenne and Becker muscular dystrophies. People with Duchenne or Becker muscular dystrophy can register with the UK DMD Registry which is managed by Action Duchenne. For more information about this registry you can phone 0208 556 9955.

For people living with Duchenne muscular dystrophy, DMD Hub Clinical Trial Finder provides accurate and up to date information regarding clinical trials in the UK.

Facioscapulohumeral muscular dystrophy (FSHD)

The UK FSHD registry is funded by Muscular Dystrophy UK and was launched in May 2013. The registry is curated by the team at Newcastle University. You can find out more about the registry and register at the UK FSHD Patient Registry website. For additional assistance please email fshdregistry@newcastle.ac.uk.

Limb girdle muscular dystrophy type R9 (formerly LGMD2i) and congenital muscular dystrophy type 1C (conditions caused by mutations in the FKRP gene)

The Global FKRP (Fukutin-Related Protein) Registry collects data from patients worldwide affected by a mutation in the FKRP gene. Most patients with an FKRP gene mutation have a form of limb girdle muscular dystrophy known as type R9 (LGMDR9, formerly called LGMD2i). However, 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). Register with the Global FKRP Registry or find out further information by contacting the registry by email (fkrpregistry@newcastle.ac.uk) or by telephone (+44 (0)191 241 8605).

Limb girdle muscular dystrophy type 2B and miyoshi myopathy

Both limb girdle muscular dystrophy type 2B (LGMD2B) and miyoshi myopathy are caused by mutations in a gene called dysferlin (DYSF). The international dysferlin registry collects information from patients with these conditions.

For further information, or to register, please visit the registry’s website.

Limb girdle muscular dystrophy type 2A

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.

Myotonic dystrophy

In 2012, Muscular Dystrophy UK partnered with the Myotonic Dystrophy Support Group to develop the UK Myotonic Dystrophy Patient Registry. Find out more by reading this leaflet or contact myotonicdystrophyregistry@newcastle.ac.uk.

Myotubular and Centronuclear Myopathy

The Myotubular and Centronuclear Myopathy Patient Registry is an international registry developed by The Myotubular Trust and Newcastle University, as part of the TREAT-NMD. It is currently jointly funded by Muscular Dystrophy UK, The Myotubular Trust and Astellas Pharma. You can find out more at http://www.mtmcnmregistry.org or email the Curator at mtmcnmregistry@newcastle.ac.uk.

Spinal muscular atrophy (SMA)

National registries have been developed for spinal muscular atrophy. More than 2,000 patients have been entered into the global registry for spinal muscular atrophy (SMA) from at least 33 national registries.

The UK SMA Patient Registry is managed by Newcastle University and is affiliated to TREAT-NMD. It is a member of the TREAT-NMD global network of SMA patient registries. Find out more and register with the UK SMA Patient Registry  or email the Curator at smaregistry@newcastle.ac.uk.

Cohort studies

Cohort studies are similar to a registry in that they recognise your interest in research (including potential future clinical trials) but usually collect additional details, which may involve you completing questionnaires or taking part in some extra tests.

Mitochondrial diseases

There is a patient cohort run by Newcastle University that is also open at hospitals around the UK. For more information on how to join, speak to your mitochondrial specialist and visit the NHS Rare Mitochondrial Disorders Service website.

Non-dystrophic myotonias, including channelopathies

There is a cohort study for non-dystrophic myotonia patients operated out of Queens Square Centre for Neuromuscular Diseases, London. To enrol onto the registry, you need to be referred to Queens Square (via your GP) and attend their clinic for an assessment. More information about the Queens Square Channelopathy service can be found here.

Contact Us

Email your questions to research@musculardystrophyuk.org

Frequently Asked Questions

Any questions you might have about patient registries.