Washington University in St. Louis is a major site in neuromuscular disease research. We participated in pivotal clinical trials and expanded access programs for numerous therapeutics that are now clinically approved products, including Zolgensma, Spinraza, Risdiplam, Exondys 51, Viltolarsen, Amondys 45 and Lumizyme, among others. We are currently participating in numerous clinical research trials for children with neuromuscular disorders. 

Our participants

We deeply value our clinical trial participants and are appreciative of their commitment to helping us find a cure for pediatric neuromuscular disorders. We strive to create a pleasant and child-friendly experience for our participants and tailor the care provided to the individual child’s needs. We can provide information to help you in your decision to participate in a trial and will quickly respond to any needs that arise during clinical trial participation.

Our active trials

Duchenne muscular dystrophy trials

A Phase 3 Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP-9001 in Subjects With Duchenne Muscular Dystrophy (EMBARK)
The study will evaluate the safety and efficacy of gene transfer therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene transfer therapy at the beginning of the second year.
Ages eligible for study: 4 to 7 years
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study with an Open-Label Extension to Determine the Safety, Pharmacokinetics and Efficacy of Oral Ifetroban in Subjects with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a devastating X-linked disease which leads to loss of ambulation between ages 7 and 13, respiratory failure and cardiomyopathy (CM) at any age, and inevitably premature death of affected young men in their late twenties. DMD is the most common fatal genetic disorder diagnosed in childhood. It affects approximately one in every 3,500 live male births across all races and cultures and results in 20,000 new cases each year worldwide. Significant advances in respiratory care have unmasked CM as the leading cause of death. As there are yet no specific cardiac treatments to extend life, the current study aims to address this unmet medical need using a new therapeutic strategy for patients with DMD.
Ages eligible for study: 7 years and older
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

A Long-term Observational Study Evaluating Sarepta Therapeutics, Inc.’s Exon-Skipping Therapies in Patients with Duchenne Muscular Dystrophy under Conditions of Routine Clinical Practice
Duchenne muscular dystrophy (DMD) patients being treated with Sarepta’s exon skipping therapies may participate. This observational study aims to collect long-term medical information from DMD patients receiving eteplirsen, golodirsen or casimersen.
Ages eligible for study: all
Status: Active, recruiting

Trial of Pamrevlumab (FG-3019), a Monoclonal Antibody to Connective Tissue Growth Factor, in Non-Ambulatory Subjects with Duchenne Muscular Dystrophy
This is a Phase 2, open-label, single arm trial of pamrevlumab (FG-3019) to estimate pamrevlumab’s safety and efficacy in non-ambulatory participants with DMD.
Ages eligible for study: 12 years and older
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

An Open-Label, Systemic Gene Delivery Study Using Commercial Process Material to Evaluate the Safety and Tolerability of and Expression From SRP-9001 in Subjects With Duchenne Muscular Dystrophy
This is an open-label gene transfer therapy study evaluating the safety of and expression from SRP-9001 in participants with DMD over 260 weeks.
Ages eligible for study: 3 years and older
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients with Duchenne Muscular Dystrophy
The main objective of this study is to evaluate the efficacy of SRP-4045 and SRP-4053 compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively.
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

Randomized, double blind, placebo controlled, multicenter study to evaluate the efficacy and safety of givinostat in ambulant patients with Duchenne Muscular Dystrophy
It is a randomized, double blind, parallel group, placebo controlled study. A total of 179 male ambulant subjects will be randomized 2:1 (givinostat:placebo).
Subjects will be stratified for their concomitant use of steroids in 4 strata:

  1. Deflazacort daily regimen
  2. Deflazacort intermittent regimen
  3. Other steroids daily regimen
  4. Other steroids intermittent regimen. The study duration is planned for 19 months.

Ages eligible for study: 6 to 17 years
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

Open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD patients who have been previously treated in one of the GIVINOSTAT studies
This is an open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD (Duchenne’s muscular dystrophy) patients who have been previously treated in one of the GIVINOSTAT studies.
Ages eligible for study: 7 years and older
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

Spinal muscular atrophy trials

Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam (SAPPHIRE)
This Phase 3 trial (Study SRK-015-003) is being conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and are receiving an approved survival motor neuron (SMN) upregulator therapy (i.e., either nusinersen or risdiplam), to confirm the efficacy and safety of apitegromab as an adjunctive therapy to nusinersen and evaluate the efficacy and safety of apitegromab as an adjunctive therapy to risdiplam.
Ages eligible for study: 2 years to 21 years
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

A Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvove
The primary objective of this study is to evaluate the clinical outcomes following treatment with nusinersen in participants with spinal muscular atrophy (SMA) who previously received onasemnogene abeparvovec.
The secondary objectives of this study are to evaluate the safety and tolerability; and clinical outcomes following treatment with nusinersen in participants with SMA who previously received onasemnogene abeparvovec.
Ages eligible for study: 2 months to 36 months
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

A Phase IIIb, open-label, single-arm, single-dose, multicenter study to evaluate the safety, tolerability and efficacy of gene replacement therapy with intravenous OAV101 (AVXS-101) in pediatric patients with spinal muscular atrophy (SMA)
To evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene weighing ≥ 8.5 kg and ≤ 21 kg, over a 12 month period
Ages eligible for study: up to 17 years
Status: Active, not recruiting
Learn more about this study at clinicaltrial.gov

A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101
This is a long-term follow-up safety and efficacy study of participants in clinical trials for spinal muscular atrophy (SMA) who were treated with onasemnogene abeparvovec-xioi. Participants will roll over from their respective previous (parent) study into this long-term study for continuous monitoring of safety as well as monitoring of continued efficacy and durability of response to onasemnogene abeparvovec-xioi treatment.
Ages eligible for study: all
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

A prospective, long term registry of patients with spinal muscular atrophy
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of one out of 10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.
Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future.
The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.
Ages eligible for study: all
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

An Open-label Extension Study for Patients with Spinal Muscular Atrophy who Previously Participated in Investigational Studies of ISIS 396443
The primary objective is to evaluate the long-term safety and tolerability of nusinersen (ISIS 396443) administered by intrathecal (IT) injection to participants with Spinal Muscular Atrophy (SMA) who previously participated in investigational studies of nusinersen. The secondary objective is to examine the long-term efficacy of nusinersen administered by IT injection to participants with SMA who previously participated in investigational studies of nusinersen.
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

A prospective, multi-center, observational study of the safety, tolerability and effectiveness of SPINRAZA in adult patients with Spinal Muscular Atrophy
This is a longitudinal, observational study of adult patients with genetically confirmed chromosome 5q SMA to examine the safety, tolerability, and effectiveness of SPINRAZA® (nusinersen) for up to 30 months.
Ages eligible for study: 18 and older
Status: Active, not recruiting
Learn more about this study at clinicaltrials.gov

Pompe disease trials

An open-label study of the safety, pharmacokinetics, efficacy, pharmacokinetics, efficacy, pharmacodynamics, and immunogenicity fo ATB200/AT2221 in pediatric subjects aged  0 TO < 18 years with Pompe disease
This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD and immunogenicity of ATB200/AT2221 treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric subjects with Pompe disease, aged 0 to < 18 years
Ages eligible for study: 0 to <18 years
Status: Active, recruiting
Learn more about this study at clinicaltrials.gov

If your child does not qualify for any actively enrolling trials at our site, we may be able to assist you in finding a trial in which your child can participate elsewhere.