Clinical Trials

An Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability and Expression of SRP-9001 following plasmapheresis in Subjects with Duchenne Muscular Dystrophy and pre-existing Antibodies to AAVrh74

Ages eligible for study: 4 to 8 years

Status: Active, recruiting

A Phase 2 Study to Evaluate the Effect of EDG-5506 on Safety, Pharmacokinetics, and Biomarkers in Children and Adolescents with Duchenne Muscular Dystrophy Previously Treated with Gene Therapy (FOX)

FOX is a 2-part, multi-center, Phase 2 study to evaluate the effect of EDG-5506 on safety, pharmacokinetics and biomarkers of muscle damage in approximately 24 children and adolescents with Duchenne muscular dystrophy treated with oral, once-daily EDG-5506.This study will have up to a 4-week Screening period, a 12-week randomized double-blind, placebo-controlled treatment period (Part A), followed by a 40-week open-label extension period (Part B).

Ages eligible for study: 6 to 14 years

Status: Active, recruiting

Learn more about this study at clinicaltrials.gov

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

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: 2 years and older
Status: Active, recruiting through invitation only
Learn more about this study at clinicaltrials.gov

A Study of EDG-5506 in Children With Duchenne Muscular Dystrophy (LYNX)

The LYNX study is a 2-part, multi-center, Phase 2 study to evaluate the effect of EDG-5506 on safety, pharmacokinetics and biomarkers of muscle damage in approximately 27 children with Duchenne muscular dystrophy treated with oral, once-daily EDG-5506 for 12 months. This study will have up to a 4-week Screening period, a 12-week randomized, double-blind, placebo controlled treatment period (Part A), a 40-week open-label extension period (Part B), and a 2-week follow up period.

Twenty-seven (27) participants aged 4 to 9 years inclusive will be randomized to EDG-5506 or placebo in a 2:1 ratio. Three dose cohorts will be enrolled sequentially. Within each cohort, randomization will be stratified by age at screening (< 7.0 or ≥ 7.0 years old).

Ages eligible for study: 4 to 9 years
Status: Active, 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

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

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 Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy (RESILIENT)

This trial will study the efficacy and safety of taldefgrobep alfa as an adjunctive therapy for participants who are already taking a stable dose of nusinersen or risdiplam or have a history of onasemnogene abeparvovec-xioi, compared to placebo. Myostatin is a negative regulator of muscle growth. Blocking myostatin activity has been shown to increase muscle size and function. Taldefgrobep alfa directly blocks myostatin activity and was well tolerated in other clinical studies. In combination with medications that increase the amount of SMN protein in the body, taldefgrobep alfa has the potential to further improve motor function and clinical measures for people living with SMA.

Ages eligible for study: 2 years to 21 years
Status: Active, recruiting
Learn more about this study at clinicaltrials.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

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

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