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Spinal muscular atrophy – Trials in Disease

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Ongoing Clinical Trials for Spinal Muscular Atrophy

There are currently 19 ongoing clinical trials investigating new treatments and approaches for spinal muscular atrophy across multiple European countries. These studies are evaluating various investigational medications including oral therapies, gene therapies, and injections aimed at improving muscle function and motor abilities in patients with different types and severities of this genetic neuromuscular condition. (Also known as: SMA, 5q-autosomal recessive SMA)

Clinical trial locations

Study of NMD670 tablets to improve muscle strength in adults with Type 3 spinal muscular atrophy who can walk

This trial is evaluating an investigational oral medication called NMD670 in adults with Type 3 SMA who are able to walk independently. Participants must be between 18 and 75 years old, have genetic confirmation of their diagnosis with 2 to 5 copies of the SMN2 gene, and demonstrate specific muscle response patterns during nerve testing. They should be able to walk at least 50 meters during a 6-minute walk test.

The study uses a crossover design lasting 21 days per treatment period. Participants will receive either NMD670 tablets (400 mg twice daily) or placebo, then switch to the alternative treatment after a break. The main goal is to measure improvements in walking distance using the 6-minute walk test, along with assessments of muscle strength and function.

Patients cannot participate if they are outside the specified age range, have severe heart, kidney, or liver disease, uncontrolled high blood pressure, or are taking medications that could interact with NMD670. Pregnancy and breastfeeding are also exclusion factors.

NMD670 works by affecting muscle channels to improve communication between nerves and muscles, potentially enhancing muscle strength in people with Type 3 SMA who maintain walking ability.

Study on How Nusinersen is Processed in Adults and Children with Spinal Muscular Atrophy Using the ThecaFlex DRx System

This study focuses on understanding how the body processes nusinersen when delivered using a new system called ThecaFlex DRx compared to traditional lumbar puncture. Nusinersen is an established treatment given directly into the spinal canal every four months at a dose of 12 mg.

Participants must already be receiving regular nusinersen maintenance doses and be enrolled in a larger study called PIERRE. The trial will measure the maximum concentration of nusinersen in the blood and how much remains present during the first 24 hours after administration.

The main inclusion criteria require participants to have SMA and be on a stable nusinersen treatment regimen. No specific exclusion criteria are listed beyond these requirements.

Nusinersen works by increasing production of a protein essential for motor neuron health, helping improve muscle function and slow disease progression in people with SMA.

Study on the Early Use of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

This trial evaluates risdiplam as an early intervention for pediatric patients who previously received gene therapy with onasemnogene abeparvovec. Children must have received the gene therapy 3 to 7 months prior to joining and have a genetic diagnosis of 5q-autosomal recessive SMA with two copies of the SMN2 gene.

The study lasts 72 weeks, during which children receive risdiplam as an oral solution. The treatment can be administered by mouth or through feeding tubes if necessary. The primary assessment focuses on changes in motor skills using the Bayley Scales of Infant and Toddler Development, specifically measuring gross motor scores.

Parents or caregivers must be willing to consider using feeding tubes or non-invasive ventilation if recommended by doctors during the study to ensure adequate nutrition and breathing support.

Risdiplam is a survival motor neuron-2 (SMN2) splicing modifier that increases production of the protein essential for muscle function, potentially providing additional benefits beyond the initial gene therapy.

Study on the Effectiveness and Safety of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

This study examines risdiplam for children aged 2 years and older who experienced a plateau or decline in abilities after receiving onasemnogene abeparvovec gene therapy. Participants must have received the gene therapy at least 3 months before joining the study and show documented leveling off or worsening in functions like swallowing and other motor abilities.

Children will receive risdiplam as an oral solution for 72 weeks, with regular monitoring of motor skills using the Bayley Scales. The study aims to determine whether adding risdiplam can help children regain or improve physical abilities that plateaued or declined following gene therapy.

Eligible participants must have genetic confirmation of SMA with specific SMN gene characteristics. Parents or caregivers must agree to use feeding tubes if needed to ensure safe delivery of fluids, nutrition, and medication.

The medication works at the molecular level by modifying SMN2 gene splicing, leading to increased production of the survival motor neuron protein crucial for muscle function.

Study on the Safety and Efficacy of RO7204239 and Risdiplam for Patients with Spinal Muscular Atrophy

This two-part trial evaluates the combination of RO7204239 (a monoclonal antibody given by subcutaneous injection) and risdiplam (an oral solution) in patients aged 2 to 25 years with genetically confirmed 5q-autosomal recessive SMA. Participants must have received previous SMA therapies at least 90 days before enrollment.

Part 1 focuses on understanding safety, how the body processes the drugs, and immune response. Part 2 evaluates the combination’s effectiveness in improving motor function and muscle strength over an extended period. For most cohorts, participants must be able to walk or run without assistance devices and complete a 10-meter distance in 30 seconds or less.

Regular monitoring includes vital signs, physical exams, laboratory tests, ECGs, echocardiograms, and blood samples to measure drug levels and immune response. The study also tracks changes in motor function and muscle mass through various assessments.

Exclusion criteria include serious health conditions that could interfere with the study, recent surgery, allergies to study medications, pregnancy, breastfeeding, and participation in other clinical trials.

Study on the Safety and Pharmacokinetics of Risdiplam in Infants with Spinal Muscular Atrophy

This study investigates how risdiplam is processed in infants less than 20 days old with genetically diagnosed SMA who have not yet shown symptoms. Infants must have been born after at least 37 weeks of pregnancy, have genetic confirmation of 5q-autosomal recessive SMA, and be receiving adequate nutrition and hydration.

The trial monitors infants over time to observe how their bodies handle the oral solution and to check for any side effects. Regular assessments include vital signs monitoring, physical examinations, and blood tests to measure risdiplam concentrations. The medication can be administered orally or through nasogastric or gastrostomy tubes if necessary.

Parents or caregivers must be willing to consider feeding tube placement if recommended by doctors to ensure safe medication delivery and adequate nutrition during the study.

Infants with known SMN2 gene modifier mutations or compound muscle action potential amplitude less than 1.5mV cannot participate. The study aims to understand the medication’s safety profile specifically in this very young population.

Study of Apitegromab Treatment in Children Under 2 Years Old with Spinal Muscular Atrophy (SMA)

This 48-week double-blind study evaluates apitegromab in children under 2 years with genetically confirmed 5q autosomal recessive SMA. All participants must be receiving or have received approved SMA treatments such as onasemnogene abeparvovec-xioi, nusinersen, or risdiplam. Children must have been born after 35 weeks of pregnancy, weighed at least 2.0 kg at birth, and currently meet minimum weight requirements according to WHO growth charts.

Apitegromab is administered through intravenous infusion. The primary assessment focuses on motor skills using the BSID-4 GMS (Bayley Scales of Infant and Toddler Development) at week 48 compared to baseline. Blood samples are collected to measure apitegromab and myostatin protein levels throughout the study.

Children must show delayed motor development or have a CHOP-INTEND score below 55. Exclusion criteria include history of severe reactions to monoclonal antibodies, participation in other investigational drug trials within specific timeframes, major surgery within 6 months, active infections, significant heart/liver/kidney problems, and contraindications to MRI scanning.

Apitegromab is a monoclonal antibody that works by targeting and inhibiting myostatin, a protein that naturally limits muscle growth, potentially improving muscle strength and motor function.

Evaluating Higher Dose Nusinersen in Patients with Spinal Muscular Atrophy Previously Treated with Risdiplam

This long-term trial (continuing until July 2027) evaluates higher doses of nusinersen (28 mg and 50 mg) in patients aged 15 to 50 years with later-onset SMA who were previously treated with risdiplam. Participants must have genetic confirmation of 5q SMA, weigh more than 20 kg, and be non-ambulatory (unable to walk 15 feet independently).

Patients must have received risdiplam for at least 6 months if never treated with nusinersen, or for at least 12 months if previously treated with nusinersen (stopped at least 16 months prior). They must have a RULM entry score of 3 or more and a total score between 5 and 30 during screening. Participants must be willing to discontinue risdiplam and begin the higher-dose nusinersen treatment.

The study monitors changes in motor function using the Revised Upper Limb Module (RULM) score, along with safety parameters including laboratory tests, ECGs, vital signs, and growth parameters. Regular assessments track any adverse events or changes in health status up to Day 1695.

Nusinersen is delivered through intrathecal injection directly into the spinal canal, increasing production of the survival motor neuron protein essential for motor neuron health.

Long-term Safety and Efficacy Study of Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy

This long-term follow-up study (estimated completion May 2034) monitors patients who previously received AVXS-101 (onasemnogene abeparvovec) gene therapy in earlier Novartis-sponsored trials. The study collects data on developmental milestones, motor function, cognitive abilities, and physical health over an extended period.

Participants or their parents/legal guardians must complete informed consent and be able to follow study procedures and attend scheduled visits. The study requires an estimated life expectancy of more than two years from enrollment.

Regular monitoring includes assessments using the Hammersmith Functional Motor Scale, Bayley Scales of Infant and Toddler Development, and other standardized measures. The study tracks any serious adverse events or significant health changes, including needs for ventilatory or nutritional support.

AVXS-101 is a one-time intravenous gene therapy that delivers a functional copy of the SMN1 gene to address the genetic root cause of SMA, aiming to restore production of the protein necessary for motor neuron survival and muscle function.

Long-term Safety Study of Onasemnogene Abeparvovec for Patients with Spinal Muscular Atrophy

This study monitors the long-term safety of OAV101 (onasemnogene abeparvovec) in patients who received the gene therapy in previous clinical trials. The observation period can last up to 15 years, tracking treatment-emergent serious adverse events and adverse events of special interest throughout this extended timeframe.

Eligibility requires previous participation in an OAV101 clinical trial, with written informed consent obtained before any assessment. Patients or their parents/legal guardians must be willing and able to comply with study procedures and attend all scheduled visits.

The study evaluates developmental milestones using the Developmental Milestone Checklist, tracking which milestones participants achieve and maintain over time. Changes in motor function are measured using the Hammersmith Functional Motor Scale – Expanded (HFMSE) and Revised Upper Limb Module (RULM). Regular monitoring includes vital signs and laboratory values to identify any clinically significant changes.

The gene therapy is administered either intravenously or intrathecally as a one-time treatment, delivering a functional SMN1 gene copy to correct the underlying genetic defect causing SMA.

Summary

The 19 ongoing clinical trials for spinal muscular atrophy demonstrate a diverse research landscape with multiple therapeutic approaches. Several countries show particularly strong participation, with Italy, Germany, Belgium, and Poland featuring in numerous studies, while some trials are conducted in single countries like Belgium and Norway.

A notable pattern emerges in the focus on combination and sequential therapies. Multiple studies evaluate adding treatments like risdiplam to patients who previously received gene therapy with onasemnogene abeparvovec, or switching from one therapy to another. This reflects the evolving understanding that some patients may benefit from multiple or sequential therapeutic interventions rather than a single treatment.

The trials span different age groups and disease severities, from newborn infants with presymptomatic SMA to adults with Type 3 SMA who can still walk. Several studies specifically target very young children under 2 years old, recognizing the importance of early intervention in this progressive condition.

Common investigational drugs across multiple trials include risdiplam (an oral medication), nusinersen (delivered by intrathecal injection), and various formulations of onasemnogene abeparvovec gene therapy. Newer experimental compounds like NMD670, apitegromab, taldefgrobep alfa, RO7204239, and BIIB115 are being evaluated in earlier-phase studies to expand the therapeutic options available.

Many trials focus on long-term safety monitoring of treatments that have already been administered, with some observation periods extending 10-15 years. This reflects the need to understand both immediate and long-term effects of these therapies, particularly for gene therapy approaches that represent one-time interventions. The emphasis on motor function assessments using standardized scales across studies enables comparison of outcomes between different therapeutic approaches.

Ongoing Clinical Trials on Spinal muscular atrophy

  • Study of Clenbuterol vs Placebo in Adult Patients with Spinal and Bulbar Muscular Atrophy (SBMA)

    Recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Italy

  • Study on the Safety and Pharmacokinetics of Risdiplam in Infants with Spinal Muscular Atrophy

    Recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Germany Italy The Netherlands Norway Poland

  • Study on the Early Use of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

    Recruiting

    1 1 1 1
    Investigated diseases:
    Investigated drugs:
    Germany Poland

  • Study on the Effectiveness and Safety of Risdiplam for Children with Spinal Muscular Atrophy After Gene Therapy

    Recruiting

    1 1 1 1
    Investigated diseases:
    Investigated drugs:
    Germany Poland

  • Study on the Safety and Tolerability of BIIB115 for Children with Spinal Muscular Atrophy Previously Treated with Gene Therapy

    Not recruiting

    1
    Investigated diseases:
    Belgium France Germany Italy The Netherlands Poland

  • Long-term Safety Study of Onasemnogene Abeparvovec for Patients with Spinal Muscular Atrophy

    Not recruiting

    1 1 1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Denmark France Italy The Netherlands Spain

  • Study of Taldefgrobep Alfa for Patients with Spinal Muscular Atrophy on Stable Nusinersen and/or Risdiplam Regimen or with Onasemnogene Abeparvovec-xioi History

    Not recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Czechia Germany Italy The Netherlands Poland +1

  • Study of Risdiplam for Infants with Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

    Not recruiting

    1 1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Poland

  • Study on the Safety and Effects of Risdiplam for Adults and Children with Spinal Muscular Atrophy

    Not recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Belgium France Italy The Netherlands Poland

  • Study on the Effects of Risdiplam in Adults with Spinal Muscular Atrophy Types 2 or 3 or with Up to 4 SMN2 Gene Copies

    Not recruiting

    1 1 1 1
    Investigated diseases:
    Investigated drugs:
    Belgium

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