Spinal muscular atrophy is a neuromuscular disorder that results in the irreversible degeneration of alpha motor cells in the anterior horn of the spinal cord and brain stem nuclei. The clinical spectrum of SMA is Type 1 (severe infantile-onset) through Type 4 (milder adult-onset forms).
Every August is Spinal Muscular Atrophy Awareness Month. This month is great time to share evidence-based information, increase patient understanding of spinal muscular atrophy and its risks, and emphasize the importance of early diagnosis and intervention.
Many spinal muscular atrophy clinical trials are underway as researchers seek not only a complete cure but to learn more about the management of the disorder and ways to diagnose it as early as possible. The following are new, currently recruiting spinal muscular atrophy clinical trials based in the United States.
The information in this article is accurate as of August 12, 2025. Visit the source page of each clinical trial for the most up-to-date information available.
Quick View Table of Currently Recruiting Spinal Muscular Atrophy Clinical Trials
| Study Title | Phase | Enrollment | Start Date | Last Update Posted |
|---|---|---|---|---|
| Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal Injection in the Treatment of Patients With Type 2 Spinal Muscular Atrophy - Phase III | 3 | 50 (estimated) | May 2025 | June 2025 |
| Clinical Trial of Mexilentine Hydrochloride for Spinal and Bulbar Muscular Atrophy (Med-SBMA) | 3 | 68 (estimated) | February 2025 | April 2025 |
| Long-term Follow-up of Patients with Spinal Muscular Atrophy Treated with OAV101 in Clinical Trials (SPECTRUM) | 3 | 175 (estimated) | December 2022 | December 2024 |
Phase 3, Currently Recruiting Clinical Trials for Spinal Muscular Atrophy
Safety and Efficacy Evaluation of GC101 Gene Therapy Via Intrathecal (IT) Injection in the Treatment of Patients With Type 2 Spinal Muscular Atrophy (SMA) - Phase III
- Sponsor: GeneCradle Inc
- Goal: The primary objective of the trial is to evaluate the efficacy of GC101 in treating Type 2 SMA. The secondary objectives are to assess the efficacy, safety, and pharmacokinetic (PK) profile of GC101 in treating Type 2 SMA.
- Interventions: Genetic: GC101 adeno-associated virus injection
- Primary Outcome Measures: HFMSE score change from baseline.
- Timeframe: 52 weeks
- Study Details
- Source
Clinical Trial of Mexilentine Hydrochloride for Spinal and Bulbar Muscular Atrophy (Med-SBMA)
- Sponsor: Masahisa Katsuno
- Goal: The purpose of this clinical trial is to evaluate the efficacy and safety of mexiletine hydrochloride in patients with spinal and bulbar muscular atrophy.
Interventions: Mexiletine Hydrochloride, Placebo - Primary Outcome Measures: Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) score.
- Timeframe: 4 weeks
- Study Details
- Source
Long-term Follow-up of Patients with Spinal Muscular Atrophy Treated with OAV101 in Clinical Trials (SPECTRUM)
- Sponsor: Novartis Pharmaceuticals
- Goal: This is a global, prospective, multi-center study that is designed to assess the long-term safety and efficacy of OAV101 in patients who participated in an OAV101 clinical trial. The assessments of safety and efficacy in Study COAV101A12308 will continue for 5 years after enrollment in this study.
- Interventions: Biological: Onasemnogene abeparvovec
- Primary Outcome Measures: Number of participants with treatment-emergent serious adverse events (SAEs); Number of participants with treatment emergent Adverse Events of Special Interest (AESI).
- Timeframe: Up to Year 5; Up to Year 5.
- Study Details
- Source
As researchers learn more about spinal muscular atrophy we may see the disease appear in clinical recommendations and guidelines. Currently, the 2024 recommendations for treatment considerations published in Neurological Clinical Practice provides clinical guidance to physicians. The consensus statement receives periodic updates when new spinal muscular atrophy treatment options are approved.
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