Everything You Need to Know About Clinical Trials for Neuromuscular Diseases

Clinical trials are the cornerstone of research. When a new medical treatment, device, or strategy is being developed, researchers need to know how it will perform in humans. Will it be helpful, harmful, or no different from the available alternatives? Investigators try to answer these questions through clinical trials.

“A clinical trial is an experiment to try to bring an intervention — whether it is a medication or a device — to market,” says Chamindra Laverty, MD, a neurologist at UC San Diego, an MDA Care Center.

Clinical trials go through several phases that usually take years to complete. Not every clinical trial ends with a new therapy on the market, but every study helps to grow scientists’ understanding of diseases and how to treat them. “Every experiment teaches us something,” Dr. Laverty says.

Regulatory agencies, like the US Food and Drug Administration (FDA), pharmaceutical companies, doctors, and patients rely on data from clinical trials to make evidence-based decisions about how to treat and manage neuromuscular diseases.

Why should you participate in a clinical trial?

Participating in a clinical trial helps advance neuromuscular disease research. You may be in a study that produces new knowledge about a disease or brings a new treatment one step closer to the people who need it, including yourself.

“One of the biggest advantages of participating in a clinical trial is that you could have access to an intervention, such as a medication, two or three years before it comes onto the market,” Dr. Laverty says. A clinical trial gives you access to experimental, cutting-edge treatment options and a medical team that will carefully monitor your disease and overall health.

“The role the clinical trial participant plays is almost like the star of the movie,” Dr. Laverty says. “The trial team is focused on your well-being while you are doing the study.”

Who can participate in a clinical trial?

People of all ages, races, ethnicities, and genders can participate in trials.

Each study has its own inclusion and exclusion criteria to help researchers collect the data they need. Common eligibility criteria can include a specific diagnosis, a certain health history, or a target age range.

“Understand that many trials restrict the number of patients and have precise diagnosis requirements,” says Sub Subramony, MD, a neurologist at the University of Florida, an MDA Care Center. Testing a treatment on a group of people with similar characteristics helps researchers keep participants safe and obtain accurate, meaningful data.

Why is genetic testing important for clinical trials?

Many neuromuscular diseases are genetic disorders. Some studies require a confirmed genetic diagnosis for enrollment, especially those exploring gene therapies.

Genetic testing can confirm a clinical diagnosis or pinpoint a person’s specific disease-causing mutation. This information is needed to test therapies that target the underlying causes of genetic disorders.

What about the safety and risks of clinical trials?

The FDA generally requires clinical trials for new drugs to go through four phases, starting with very low doses to look for any signs of toxicity before moving up to doses that might be effective.

“During clinical trials, the study team monitors safety diligently,” Dr. Subramony says. “Patients often have many visits and exams and extensive safety lab testing throughout the trial.”

Though this process can be slow, the FDA’s primary concern is protecting people participating in clinical trials.

“Many drugs being tried are truly novel,” Dr. Subramony says. “As with any new drug, adverse events such as allergic responses or liver, kidney, or blood toxicities may occur. Testing the product in animal models before clinical trials mitigates these risks but cannot eliminate them.”

It’s important to weigh the risks and potential benefits when deciding whether to join a clinical trial.

What can you expect when you enroll in a clinical trial?

In general, you’ll start with a screening visit, sometimes called an informed consent visit. During this visit, the trial team may perform an exam or tests to confirm you are eligible for the study. They’ll also provide information about the purpose, protocols, and timeline of the study and answer any questions you have.

Most trials require one or more visits to receive the treatment being studied and several follow-up visits to monitor any side effects and your disease progression. If the trial site is far from home, visits may require travel and hotel stays. Your total time involved with the study could be months or years.

“If you have a job, you need to be sure your work environment can accommodate your absences. The trial team can often provide supporting letters,” Dr. Subramony says.

He also warns that some visits may involve invasive procedures, such as blood draws, muscle or skin biopsies, or spinal taps. The trial team should tell you what tests or procedures, if any, to expect at each visit.

Most clinical trials provide medical care associated with the trial, but they do not provide overarching healthcare. You should maintain your regular visits with your primary care provider and neuromuscular care team.

What is a placebo, and why is it used in a clinical trial?

A placebo looks like the treatment being tested, but it contains no active ingredient. In a placebo-controlled study, participants are randomly assigned to either a treatment or a placebo group. Placebos are used to ensure that any benefits observed in the study are due to the treatment’s active ingredient, not simply the act of participating in the study.

“Double-blind, placebo-controlled studies (where neither the researchers nor participants know who is receiving the drug or placebo) continue to be the gold standard of clinical trials. This ensures the two groups of patients are treated exactly the same, with the only difference being the drug vs placebo,” Dr. Subramony says.

Some trials have an open-label phase in which all participants can receive the treatment after the placebo-controlled phase is over.

What are your rights and responsibilities in a clinical trial?

“The participant has the right to be fully informed of the nature of the trial, the procedures to be used, the expected outcome, and risks,” Dr. Subramony says.

You should receive these details in writing and have the chance to ask questions before you sign an informed consent document. You also have the right to withdraw from the study at any time.

“Responsibilities include cooperating fully with the visit schedule and performing all the procedures needed as instructed,” Dr. Subramony says. “Compliance with the drug regimen is most important; be honest about how you have taken the drug and report any deviations.”

Dr. Laverty adds that participants should keep the study team informed of any new symptoms, illnesses, or injuries. “For example, if a new symptom began once they got home from a treatment visit, that needs to be conveyed to the study team,” she says. Even illnesses or injuries unrelated to the study could affect the data collected, so the study team needs to know about them.

What are the costs of a clinical trial?

Study-related clinical visits, care, and treatments are generally fully covered by the clinical trial’s sponsor. Insurance usually is not required to participate in a clinical trial. The informed consent form should detail what is covered.

You may incur expenses if you need to travel to the clinical trial site. Ask if the study will reimburse travel, lodging, or other costs related to clinic visits, such as parking and meals.

It is also important to consider the amount of time away from work or school a clinical trial will require and how that would impact you or your family.

How can you find a clinical trial?

MDA’s resources for finding clinical trials include the Clinical Trial Finder tool, Clinical Trial Updates list, and Quest Media.

MDA Care Center providers also stay informed about clinical trials.

Find more tips for finding clinical trials in the Quest Magazine article What Is the Drug Development Pipeline?

If you can’t find a clinical trial right now, how can you let researchers know you’re interested?

Look for a natural history study or disease registry related to your diagnosis. Both help researchers understand the progression and prevalence of rare diseases and plan clinical trials.

According to Dr. Subramony, one of the best ways to learn about clinical trials is to see your MDA Care Center team regularly. If you tell them you’re interested in participating in research, they can alert you about any appropriate studies they find. In addition, many Care Centers participate in MDA’s MOVR Data Hub and other disease registries, which can help researchers identify potential clinical trial participants.