Clinical trials

Clinical trials n.sutherland@m… Wed, 05/26/2021 - 13:02

This includes observational studies, to understand more about a muscle-wasting condition and how it progresses (its natural history), and clinical trials, to assess the safety and effectiveness of specific interventions. These interventions could be medical products, for example, drugs or devices; medical procedures, such as a type of surgery; or changes to a person’s lifestyle, such as an exercise regime.

As with any experiment, researchers design clinical trials to answer specific research questions. After reviewing what is already known about the drug or intervention, from preclinical studies or previous trials, researchers will develop a specific plan or protocol, outlining:

  • who can take part (eligibility criteria – often called inclusion and exclusion criteria)
  • how many people are needed at each stage to ensure robust data collection
  • how long the study will last
  • whether or not there will be a control group (to limit bias)
  • how the treatment will be administered and at what dosage
  • what will be measured (outcome measures) and when
  • how the data will be reviewed and analysed.

We’ve put together some frequently asked questions to help you understand the process of clinical trials. If you have further questions, please contact the Research Line at

What are the different phases of a clinical trial?

Clinical trials typically follow a series of stages, or phases:

  • Phase 1
    Aims to assess the safety of a treatment. Phase 1 trials involve a small number of people, who are often healthy volunteers. However, in the case of genetic therapies, these trials are carried out in people with the condition. The researchers adjust dosing schemes based on preclinical data from animals, to find out how much of a treatment the body can tolerate and what its potential side-effects are.
  • Phase 2
    Aims to assess the safety and effectiveness of a treatment. This may be the first time of testing it in people who have the condition that the treatment is intending to treat. Researchers may divide participants into groups – one of which will receive the optimal dose, the other of which will receive a different dose or a placebo (an inactive substance designed to resemble the treatment being tested).
    Phase 2 trials are sometimes divided into phase 2a and phase 2b. Phase 2a is specifically designed to determine the best dose of the drug. Phase 2b is specifically designed to study how well the drug works at the dose determined in the phase 2a study.
  • Phase 3
    Often referred to as the ‘confirmatory’ phase, phase 3 aims to prove the effectiveness of a treatment in people with the condition. Researchers will usually compare the new treatment against the current standard treatment (if one exists). These trials not only take much longer than phase 1 or 2 trials, but are also much larger, often involving people from multiple centres across the world.
  • Phase 4
    Also known as ‘post-marketing surveillance’, these studies may take place after the regulatory authorities have approved the treatment. They give information about the long-term risks and benefits of the treatment in a much larger patient population, many of whom may also be receiving treatment for other conditions. This helps to identify the risks and benefits in a ‘real world’ situation.

Some clinical trials may fall in two of these phases. For example, you may see phase 1/2 trials, which aims to identify the highest safe dose, and also how well that dose works.

Why participate in a clinical trial?

People have different reasons. Some would like the opportunity to potentially benefit from new treatments before they become more widely available. However it’s important to remember that there are risks with taking part (see below). In addition, some trials are designed with a placebo arm, which means that some participants don’t actually receive the treatment being tested.

Another potential advantage is that people taking part in clinical trials are often followed up regularly and are closely monitored, even after the trial has finished. This close attention could result in better management of the condition.

Other people may feel that by taking part, they are ‘doing their bit’ to advance science and potentially help others in future. Participating in a clinical trial may not only help to accelerate the development of new treatments but could also improve our knowledge of muscle-wasting conditions.

What are the risks and disadvantages of taking part in a trial?

Many people are understandably eager to take part in clinical trials. However it is very important to understand exactly what is involved in a particular trial and the potential risks associated with a new treatment. You should discuss the study in detail with the trial nurse or doctor before giving consent to take part.

A potential disadvantage is that studies often involve multiple and frequent visits to hospital. This is not always easy or practical and can have an impact on the whole family. Procedures could be painful, for example injections and biopsies and, of course, there is always the risk of an adverse reaction to the treatment.

Participants in a trial also have to keep in mind that the treatment they receive might not provide any direct benefit for them – there is a chance they might be given a very low dose of the drug, or even a placebo. In addition, participants should be aware that taking part in one clinical trial may affect their chances of taking part in a future clinical trial. This should be discussed with members of your healthcare team prior to enrollment.

Who can participate in a clinical trial?

All clinical trials have guidelines about who can take part. The factors that allow someone to participate in a clinical trial are called ‘inclusion criteria’ and those that disallow someone from participating are called ‘exclusion criteria’. These criteria are based on such factors as age, gender, the type and stage of a condition, previous treatment history, and other medical conditions. Before joining a clinical trial, a participant must qualify for the study.

Inclusion and exclusion criteria are not used to reject people personally, instead they:

  • Keep the participants safe, for example another underlying condition could make participation in the trial dangerous.
  • Help ensure that the researchers are able to produce reliable results and therefore get the treatment to market as quickly as possible so that the wider population can benefit.
  • Increase the reliability of the results by ensuring that everyone taking part has similar symptoms at the beginning of the trial. Otherwise it is difficult for the researchers to interpret the results because they won’t know if the reason one patient responded to treatment and another didn’t is due to the drug or differences in their condition to begin with. This is especially helpful in the early phases of a clinical trial when there are only few participants.

In most circumstances, people who wish to participate in a clinical trial will find it easier if they live relatively near the team of people who are conducting the research, because they need to be monitored frequently. Some studies provide financial support for travel costs; you can ask the clinical trial team if these resources are available.

What do I need to know before I enrol in a clinical trial?

You should know as much as possible about the clinical trial and feel comfortable asking the members of the healthcare team questions about it. Please see here for a list of questions you may like to ask members of your healthcare team prior to enrolment.

What do I do if I want to participate in a clinical trial?

For more information about participating in a clinical trial, please visit our Taking Part page.

Is Muscular Dystrophy UK funding any clinical studies?

We are also funding several observational studies, including the largest natural history study for Duchenne muscular dystrophy, named NorthStar.

In the past we have funded a clinical trial to test a new drug for people with McArdle’s disease as well as a clinical trial that looked into the long-term benefit of Vitamin C for people with Charcot-Marie-Tooth disease.

In addition to the studies funded directly through our research programme, we provide administrative and managerial support for the setting up of clinical trials. These include clinical trial co-ordinators, who help with the setting up and running of clinical studies at a particular centre. They are responsible for ensuring that the research takes place within regulatory guidelines as well as the specifications outlined in the trial protocol. Muscular Dystrophy UK currently funds clinical trial co-ordinators at the muscle centres in Newcastle, London and Oxford.

Patient registries

Patient registries n.sutherland@m… Wed, 05/26/2021 - 13:07

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.

Collagen VI-related dystrophies, including Ullrich congenital muscular dystrophy and Bethlem myopathy

The Collagen VI Alliance, which is made up of Muscular Dystrophy UK, Cure CMD, Muscular Dystrophy Ireland, AFM Telethon and Swiss Foundation for Research on Muscle Disease, is funding the development of a global registry for collagen VI-related dystrophies. This is for individuals who have been diagnosed with Bethlem myopathy, Ullrich congenital muscular dystrophy, or an intermediate form of these conditions.

Find out more on the registry’s website, or you can get in touch with the registry

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 and global 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.

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 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 please email

Hereditary inclusion body myopathy, including GNE myopathy

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 

Limb girdle muscular dystrophy type 2I 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 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

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

Myotubular and Centronuclear Myopathy

The Myotubular and Centronuclear Myopathy Patient Registry is an international registry developed by The Myotubular Trust and TREAT-NMD. It is currently jointly funded by Muscular Dystrophy UK and The Myotubular Trust. You can find out more at or email the Curator at

Spinal muscular atrophy (SMA)

National and global 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  


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

Call our dedicated Research Line on 02078034813 or email your questions to

Patient registries FAQ

Patient registries FAQ n.sutherland@m… Wed, 05/26/2021 - 13:15

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 hold can help clinicians develop care standards for a particular condition. Patients can link to the research community and have the opportunity to access information directly relevant to their condition. The registries are generally designed for one specific condition. They include information about the symptoms of the people registered and if possible, what their genetic diagnosis is.

Registries are usually set up at a national level and then the data combined into one international registry. For example, there are now registries for Duchenne muscular dystrophy in over 40 countries and data from these registries is combined into one international registry. For some rarer conditions, or conditions that have many different subtypes such as congenital muscular dystrophies, international registries have been set up without the intermediate step of national registries.

Who can register and how do you do it?

Registries are already in place for several neuromuscular diseases and anyone who has one of the conditions listed can register. If you are the parent of a child with the condition, you can register on their behalf.

All registries involve filling in a form on the internet and if you do not have access to the internet you can make contact by phone and be sent a paper version of the registration form.

The registries are managed by a curator who monitors whether the data are entered correctly. You are normally asked a number of questions about yourself and how the condition affects you. You might also be asked to give your consent for the curator to approach your treating clinician(s) for more specific clinical or genetic information. You can view your data at any time, including the information added by your clinician(s).

You can find more information about currently available registries here.

Is my data safe?

All data you give to the registries are stored on a secure server (protected in a similar way to online bank accounts) which only specially appointed staff have access to. Information that is entered online is encrypted while being transferred so that it cannot be intercepted.

If the registry is run by a patient organisation they are required to adhere to the ‘TREAT-NMD Registries Charter‘. This document sets out the recommended best practice for running a registry and provides guidelines to protect your data. At all times the data remains your property and you have the right to withdraw it.

When your data is transferred to an international registry or when a researcher is allowed access to the data in the registry, personally identifiable information such as your name, address etc. does not go with it – the data about your condition is identified only by a code.  This means you can be sure that your details are safe and nobody unauthorised can access them.

Each registry is governed by an oversight committee which includes medical experts and patient representatives. It is their responsibility to monitor that the registry is appropriately run and to review any request for data, for example a company planning a clinical trial might request information from the registry. The committee will then decide whether the request should be granted.

If you don’t give my details away, how will I be contacted about trials?

The main point of the registries is to be able to find patients for trials and the registry acts as a kind of ‘trusted intermediary’. A company or researcher can come to a registry with a specific request – like “we need to recruit 15 patients in the UK who have this specific mutation, are in this particular age range, are taking these drugs, and are able to walk without assistance”, and the registries have all this information immediately to hand.

First it is checked that the company has all the necessary ethical approvals to run the trial. If the oversight committee for the registry approves the request then everyone in the registry who meets the criteria for the trial is contacted. You would be told that there is a trial you might be eligible for and given the details on how you could take part. Usually this would involve you contacting the clinic running the trial to arrange an appointment to discuss the trial and what it involves. You would only need to do anything if you were interested in taking part – your details are never given to the company.

How have registries helped in the development of treatments?

Companies developing treatments for neuromuscular conditions have asked for help from the registries in two main areas. Firstly, when they are in the planning stages of their trial, they can use the registries to find out statistical data about the numbers of patients who might meet the criteria for the trial. This helps them decide on the number of countries and the number of centres in each of those countries they need to include in order to make sure they can recruit sufficient patients quickly enough.

Secondly, when they come to recruit patients for the trial, they can ask the registries to contact all potentially eligible patients on their behalf. This is particularly helpful because usually only one or two centres in every country will be running the trial. As those centres only know the patients who are normally seen in that centre, without the involvement of the registries patients elsewhere in the country may miss out .

When pharmaceutical companies find recruitment into their particular clinical trial too slow, they can use international registries to help them recruit their remaining patients. This can really speed up the recruitment of participants and the trials can start more quickly.

If you have any further questions, please email:

Find clinical trials

Find clinical trials n.sutherland@m… Wed, 05/26/2021 - 13:37
Disclaimer: This ‘clinical trials finder’ tool is external software that is powered by Antidote; Muscular Dystrophy UK cannot be held responsible for any inaccuracies that may occur when you use it.
If you can't see the above finder, then please click here to go directly to Antidote.


If you have any questions about a particular trial, or would like to know more about research into your condition, please contact our Research Line on 020 7803 4813 or at

We are aware that some muscle-wasting conditions cannot be recognised by the Antidote clinical trial finder. We are working closely with Antidote to address this and further develop the tool. If your condition is not recognised, or you have questions about any trials you find, please view our user guide or contact us directly.

Guidelines for official clinical studies

Guidelines for official clinical studies Danielle Poulter Mon, 07/18/2022 - 13:07

We appreciate the significant toll a neuromuscular condition can have on you and some people have a strong desire to participate in any research that can give people access to new treatments as soon as possible. However, it can be dangerous to roll out new treatments without regulators, pharmaceutical companies and the NHS to do their due diligence to ensure you benefit from the right, new treatment for you. Participating in a clinical trial is the key to helping others access such treatments safely.

It is essential that you are informed of the strict criteria that has been put in place to protect you should you choose to participate. It is important that you know exactly what is involved in any trial and any potential risks associated with participating, and that you only participate in trials that are officially registered to ensure that your health and safety are protected. Not every trial may be right for you and participating in trials that are not legitimate may put your health and safety at risk, as they may not have the same safety guidelines outlined below.

Guidelines for Official Clinical Studies

Informed Consent: To perform an official clinical study, medical researchers must outline a ‘protocol’ that clearly states their research questions and intentions. After reading and comprehending this protocol, patients will sign an ‘Informed Consent’ document to show that they have been provided sufficient information of exactly what will be involved, and the risks and benefits of participating. It is common to include other activities to measure a patient’s understanding before allowing them to consent to participate so that they are completely informed. It is important to note that signing an informed consent document is required to participate in the study to protect your health and safety, but it is NOT a contract and participants are allowed to drop out at any time.

Monitoring and Review: Official clinical studies must be reviewed, approved, and monitored by an Institutional Review Board of doctors, medical researchers, and other community members. The board will ensure that you are protected, the study is ethical, and risks are minimised. Some clinical studies may also be monitored by data monitoring committees, which monitor the safety and scientific integrity of the trial, and have the power to stop the trial if it is harming participants or is not effective. Should you choose to participate in a clinical trial, you should understand that the trial is constantly being monitored, and your health and safety is a priority.

Involvement of Healthcare Providers: Participating in a clinical study will not impede your usual care. Typically, patients continue to see their usual medical appointments. Your specialist neuromuscular consultant will make sure that participating in the study will not conflict with your current treatments and medications, which is why it is important to discuss your participation with them before, during, and after the trial.

Identifying Potential Participants: Official clinical trials will provide strict criteria on who can participate in the trial. The research team is often looking for a specific group of people and will ensure that only people who fit these characteristics participate. This is called the eligibility criteria and will be outlined in the protocol, along with the reasons for targeting this group of people.

Funding: A red flag that a study may be unofficial is if the team asks you to pay any amount to participate. Official clinical studies will not ask for any payment, and will often reimburse you for your participation and any extra costs that you endured.

We understand the eagerness to participate in clinical trials, but it is important that you are fully aware of these guidelines and why they are put in place. Official clinical studies must fulfil numerous requirements to ensure that participants are protected and that the trial can achieve its scientific purpose.

All official clinical trials have to be registered, and you can check what trials are currently going on here 

If there is a trial you are interested in, speak to your neuromuscular consultant, who can advise you on whether you are suitable for the trial and help ensure that your health and safety will be protected. Please see below for a list of questions you may want to ask your consultant or the trial research team to see if a trial is right for you.

Questions to Ask When Considering Participating in a Clinical Trial

  • Is the trial officially registered at
  • What are the possible interventions that I might receive? How will they be determined (i.e. by chance)? Will I know which I am receiving?
  • What exactly will I have to do? Are tests and procedures involved? How often will I have to visit the hospital/clinic?
  • How do the risks, side effects, and benefits compare with those of my current treatment?
  • How is the trial being monitored?
  • Who will oversee my medical care while I am participating?
  • After the trial: Will I receive the results? Will I be reimbursed? Is there any long-term follow-up care involved?