If you or a loved one has spinal muscular atrophy, you may want to consider participating in a clinical trial. Clinical trials evaluate the impact of a health condition and its potential treatments, often with the participation of people who have that condition. Clinical trials are conducted under strict ethical supervision that requires the informed consent of all participants.
Clinical trials, also called clinical studies or medical research studies, are essential to drug development and finding new uses for existing drugs. Clinical studies for SMA usually investigate drugs in one of the following ways:
Here are five reasons you may want to consider enrolling in an SMA clinical trial.
In recent years, SMA studies have ushered in an evolving treatment landscape researchers are calling revolutionary. SMA treatment research focuses primarily on two goals: potential drugs that can modify genes, and drugs that may rebuild muscle mass, which is weakened and lost in people with SMA.
Thanks to clinical trials, three drugs have been approved by the U.S. Food and Drug Administration (FDA) for the treatment of SMA:
These SMA drugs have been groundbreaking. They have increased life expectancy and improved motor function and motor milestones for some people with SMA. Meanwhile, new clinical research on SMA therapies seeks ways to further improve life with SMA.
SMA is a neuromuscular disease that affects the survival motor neuron (SMN) protein, which controls muscles and affects the nervous system. Research for new therapies has taken several approaches aimed at delaying, slowing, or stopping disease progression. These approaches include:
Current drug treatments for SMA have shown beneficial results, but neurology researchers want to go much further with gene therapy and other targeted drugs. Drug therapy has slowed disease progression and improved survival for young children with SMA type 1. However, evidence also shows links between drug therapy and higher rates of potentially debilitating scoliosis among children. On the other hand, researchers are optimistic that early, presymptomatic treatment of SMA could eventually lead to normal motor function development.
By participating in an SMA clinical trial, you may gain access to new dosages, combinations, or medications that show promise in medical research. Every new drug, dosage, or combination approved for treatment by the U.S. Food and Drug Administration (FDA) was required to go through clinical trials, and the people who participated in those studies were the first to benefit.
Studies for promising new SMA treatment regimens are ongoing, and clinical trials continue to launch. In addition to developing new treatment approaches, researchers for SMA are working to understand the long-term effects of existing drugs, which treatments work best for early-onset SMA versus adult-onset SMA, and how to address any challenges new treatments may present.
Some mySMAteam members have shared disappointments with existing SMA treatment regimens:
A new treatment approach through a clinical trial may be worth considering if you’re not satisfied with a your current regimen. For instance, nusinersen has helped people with SMA type 2 and type 3 with standing and walking, but studies show that motor improvements have benefited equally from newer developments in assistive devices. Some people therefore may not want to risk side effects of the drug.
It’s important to know there is no guarantee that a new treatment, dosage, or combination tested in a clinical study will work for you. All medications, even those available over the counter, come with a risk of side effects. If you decide to join a clinical trial, you’ll be advised about any potential risks and benefits, and the time commitment required to participate. through a clinical trial may be worth considering if you’re not satisfied with your current treatment regimen. If you decide to join a clinical trial, you’ll be advised about any potential risks and benefits, and the time commitment required to participate.
SMA is a rare disease with complex characteristics. Studies show there are significant unmet needs in the areas of SMA diagnosis and management, and insufficient supportive care for people with the condition. Along with any potential benefits from drug therapy, participating in a clinical trial may be valuable in other ways.
A clinical trial can give you access to researchers who are on the cutting edge of SMA treatment. A relationship with a research study team may provide useful information on the disease and may offer new knowledge on caregiving, physical therapy, new assistive devices, and other clinical trials that may be appropriate for you.
Furthermore, a clinical trial may include monitoring, care, and assessments that provide new perspectives on your needs. Having your condition reviewed by a research team may further your understanding of unmet needs you could discuss with your health care providers, caregivers, and family members.
Currently available drugs for the treatment of SMA are very expensive. In fact, Zolgensma is considered the most expensive drug in the world with an estimated cost of nearly $2 million per treatment. Research and development for new drugs is expensive, and with rare diseases like SMA, a small number of people will use the drug and recoup the costs for developing it.
While health insurance and other subsidies may help reduce some of those costs, the cost of living with SMA and treating the condition can be a substantial burden. Some people with SMA may even have trouble getting their health insurance to cover their medication. “I received my denial call from the insurance company for the SMA treatment I wanted,” wrote one mySMAteam member. “So now I have to start the appeals process.”
Although the cost of developing new drugs is expensive, the cost of participating in clinical trials is often covered by a combination of the study sponsors and your health insurance. Before participating in a clinical trial, be sure to discuss any out-of-pocket costs in detail and make sure you understand how the costs are covered.
People with SMA participate in clinical trials for a variety of reasons, not least of which is to contribute to research that can potentially help others. In one study by Cure SMA on the experience of clinical trials, people with SMA reported the leading benefits were:
Some clinical trials may not provide you with direct health benefits, but they can advance research in other ways. For instance, there are studies to discover new biomarkers for SMA and tests that can indicate if someone may develop SMA and how severe it may become. Other clinical trials are trying to understand disease progression, or why SMA affects people differently, and how long-term treatment affects those with SMA. These types of studies may ultimately help doctors provide treatment earlier for better outcomes.
ClinicalTrials.gov provides a list of current SMA clinical studies and participating institutions. If you’re interested in participating in a clinical study, talk to your doctor about what type of clinical trial may be appropriate for you.
Read more about how clinical trials work for people with SMA.
On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, more than 1,800 members come together to ask questions, give advice, and share their stories with others who understand life with SMA.
Have you or a loved one with SMA participated in a clinical trial? Share your experiences in the comments below, or start a conversation by posting on your Activities page.