New Research Aims to Connect ‘Lost’ Patients with Spinal Muscular Atrophy to Modern Treatments.

MHRI research now underway uses both data science and structured interviews to explore barriers to treatment for people with spinal muscular atrophy. 

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder caused by a change (mutation) in the SMN1 gene that leads to significant muscle weakness. 

This mutation prevents the body from producing enough protein that keeps nerve cells in the spinal cord and brain stem healthy. Without this protein, nerve cells break down, leading to weak muscles. While SMA is rare, affecting between 10,000 and 25,000 people in the U.S., its impact on quality of life is significant. 

Today, most infants are diagnosed at birth and can start modern treatment right away. But people born before these advances first became available about a decade ago may not have received this care. If they stopped seeing a neurologist because they were told their condition was untreatable, they may not know new options are now available. 

A new study from MedStar Health Research Institute aims to identify these patients, understand their experiences, and connect them with treatments that can significantly improve their quality of life. 

Using a two-phase approach that leverages MedStar Health’s robust data resources and individual interviews, our study seeks to bridge patients with SMA to modern care.

Mapping the SMA journey with data and dialogue.

Phase 1: Digital detective work.

The first phase of our research involves a retrospective review of MedStar Health’s electronic health records. We’re examining the records of patients with a code indicating a diagnosis of SMA to understand:
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• The timeline of their diagnosis

• Confirmation of genetic testing

• Treatment history, if any

• Demographic factors

Coding in medical records is intended for billing, not medical decision-making. Old codes can linger after a diagnosis has been ruled out. 

By reviewing these records to confirm SMA genetic markers and diagnostic timelines, we are creating a more accurate portrait of the patient experience.

Phase 2: The patient voice.

Data only tells part of the story. For a more complete picture, our study includes 60-minute interviews with up to 200 adult patients. 

In these structured conversations, we’re working to understand the real-world factors that can keep people from accessing care, such as:
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• Loss to follow-up: Many adults were told long ago that there were no treatments for SMA. As a result, they may have stopped seeing their neurologist because no solutions were available at the time.

• Geographic disparities: Patients in rural areas lack access to specialized neuromuscular centers.

• Lower quality of life: Using the Norfolk Quality of Life Scale, we measure the physical and emotional toll of living without SMA care.

By identifying gaps, we believe our study can help connect more patients with SMA to providers who can offer them therapies that can make a real difference in their quality of life.

A new era of SMA treatment.

This research is especially urgent as SMA enters a groundbreaking new era. Today, therapies approved by the Food and Drug Administration can alter the course of disease in children and adults. These therapies include:
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• Nusinersen (Spinraza): A breakthrough injectable treatment approved in 2016 to increase production of the SMN protein, supporting motor neuron survival.

• Risdiplam (Evrysdi): A highly effective oral option taken as a once-daily pill to increase SMN protein production.

• Onasemnogene abeparvovec-xioi (Zolgensma): A one-time gene therapy delivered with an injection that has been approved for infants under 2 years old. This treatment delivers a new, functional copy of the SMN1 gene, allowing it to produce essential proteins.

• Onasemnogene abeparvovec-brve (Itvisma): FDA-approved in late 2025, this is the first gene replacement therapy available for patients 2 years and older, including adults. Delivered as a one-time injection, it addresses SMA at its genetic root by delivering a functional copy of the SMN1 gene to stop the progression of muscle weakness.

Patients who haven’t seen a neurologist in the past few years might not know these options exist. Our research aims to understand the barriers to care and to expand access, ensuring every patient receives modern treatment. 

Related: Read “Research: Spine-inspired Exosuit Could Help Relieve Low Back Pain.”

Breaking down barriers to care.

MedStar Health is an extensive healthcare system, which gives our research a unique advantage. Because our clinicians see many patients for various reasons, we’re able to identify patients with untreated SMA even when they’re seen for an unrelated reason.

Ultimately, this research could help bring about critical systemic changes, including:
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• Best Practice Advisories (BPAs): Automated flags in the medical software that alert a primary care doctor if their patient has an SMA diagnosis but is not currently on treatment.

• Multidisciplinary connections: Patients with SMA receive the best care when connected to our specialized interdisciplinary clinics. Here, they can visit a neurologist, physical therapist, and nutritionist all in one visit.

Conditions like SMA, once considered untreatable, now have effective treatment options. With advanced medications and multidisciplinary approaches, we can significantly improve our patients’ quality of life.
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