Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a severe genetic disorder that causes progressive muscle weakness and degeneration. DMD significantly shortens life expectancy, with most individuals living into their 20s or 30s, though advances in care are improving outcomes.

  • Cause: Mutation in the DMD gene, leading to a lack of dystrophin, a protein needed for muscle strength and stability; inherited in an X-linked recessive pattern, primarily affecting boys.

  • Features: Muscle weakness starting in early childhood (especially legs), difficulty walking, frequent falls, enlarged calves, and later heart and respiratory issues.

  • Diagnosis: Based on symptoms, elevated creatine kinase levels, genetic testing, and sometimes muscle biopsy.

  • Treatment: No cure; management includes corticosteroids, physical therapy, respiratory support, and emerging therapies.

Active Trials

  • TITLE: A Phase 2, Open-label Study to Evaluate the Pharmacodynamics and Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.

    SPONSOR: Avidity Biosciences

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: AOC 1044-CS2

    PHASE: 2

    DESCRIPTION: AOC 1044-CS2 (EXPLORE44-OLE) is an open label, extension study to Part B of AOC 1044-CS1 (EXPLORE44). AOC 1044-CS2 is designed to evaluate the pharmacodynamic effect of AOC 1044 on dystrophin protein production in skeletal muscle as well as the long-term safety, tolerability, pharmacokinetics, and exploratory efficacy of AOC 1044.

    Participants from AOC 1044-CS1 Part B are eligible to enroll in AOC 1044-CS2 if they have satisfactorily completed AOC 1044-CS1.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia, North Carolina

  • TITLE: A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3) (HOPE-3)

    SPONSOR: Capricor Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: CAP-1002-DMD-04

    PHASE: 3

    DESCRIPTION: HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during the first 12-months of the study. All participants will be eligible to receive 4 doses of CAP-1002 for an additional 12 months as part of an open-label extended assessment period.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia, North Carolina

  • TITLE: CureDuchenne Link®: A Resource to Support Research Studies in Duchenne and Becker Muscular Dystrophy (DMD/BMD).

    SPONSOR: CureDuchenne

    INDICATION: Duchenne Muscular Dystrophy/ Becker Muscular Dystrophy

    PROTOCOL: CD-2021-01

    PHASE: NA - Observational

    DESCRIPTION: CureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia, North Carolina

  • TITLE: Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping (DELIVER)

    SPONSOR: Dyne Therapeutics

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: DYNE251-DMD-201

    PHASE: 1 & 2

    DESCRIPTION: The primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping.

    The study consists of 3 periods: a multiple-ascending dose (MAD) / placebo-controlled period (24 weeks), an open-label period (24 weeks) and a long-term extension period (96 weeks).

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

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

    SPONSOR: Edgewise Therapeutics, Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: EDG-5506-210

    PHASE: 2

    DESCRIPTION: This is a 2-part, multi-center, Phase 2 study to evaluate the effect of sevasemten (EDG-5506) on safety, pharmacokinetics and biomarkers of muscle damage in approximately 72 children with DMD treated with oral, once-daily sevasemten for 24 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 92-week open-label extension period (Part B), and a 2-week follow up period.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: Phase 2 Study of EDG-5506 in Children and Adolescents With Duchenne Muscular Dystrophy Previously Treated With Gene Therapy (FOX)

    SPONSOR: Edgewise Therapeutics, Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: EDG-5506-215

    PHASE: 2

    DESCRIPTION: FOX is a 2-part, multi-center, Phase 2 study to evaluate the effect of sevasemten (EDG-5506) on safety, pharmacokinetics and biomarkers of muscle damage in approximately 48 children and adolescents with Duchenne muscular dystrophy treated with oral, once-daily sevasemten. 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) .

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: North Carolina

  • TITLE: A Phase 1, Multicenter, Open-label Study to Investigate the Safety and Biodistribution of a Single Intrathecal Injection of INS1201 in Ambulatory Males with Duchenne Muscular Dystrophy (The ASCEND study)

    SPONSOR: Insmed Gene Therapy LLC

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: INS1201-101

    PHASE: 1

    DESCRIPTION: This is a Phase 1, multicenter, first-in-human, 2-part, open-label, dose escalation study designed to assess the safety and biodistribution of a single IT administration of INS1201 AAV9 gene therapy in ambulatory males 3 to <5 years of age in Part 1 and 2 to <3 years of age in Part 2 with confirmed genetic diagnoses of DMD.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia, North Carolina

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  • TITLE: A Phase 2 Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of NS-089/NCNP-02 in Boys with Duchenne Muscular Dystrophy (DMD)

    SPONSOR: NS Pharma, Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: NS-089/NCNP-02-201

    PHASE: 2

    DESCRIPTION: This is a Phase 2, open-label, multi-center, 2-part study of NS-089/NCNP-02 administered by weekly IV infusion to ambulant boys aged ≥4 to <15 years with DMD due to mutations amenable to exon 44 skipping. Participants will receive a selected dose of NS-089/NCNP-02 administered once weekly.

    The study consists of 2 parts: Part 1 and Part 2. Six participants (Cohort 1) will participate in both Part 1 and Part 2, and 14 participants (Cohort 2) will be added for Part 2.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia, Florida

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  • TITLE: Anti-AAV8 Antibody Assessment Study of Boys with Duchenne Muscular Dystrophy Aged 0 to <12 Years

    SPONSOR: REGENXBIO Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: RGX-202-0101

    PHASE: N/A

    DESCRIPTION: This is a noninterventional screening study; no investigational product is administered in this study. Information collected in this study may be used to identify potential participants for DMD investigational gene therapy clinical trials. This study consists of a single phone/video interview, a single home health visit, and a single phone/video call for communication of AAV8 antibody test results.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia

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  • TITLE: A Phase 1/2/3 Open-label Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacodynamics, and Pharmacokinetics of Intravenous RGX-202 Gene Therapy in Males with Duchenne Muscular Dystrophy (DMD)

    SPONSOR: REGENXBIO Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: RGX-202-1101

    PHASE: 1/2/3

    DESCRIPTION: This is a multicenter, phase 1/2/3, open-label study to evaluate the safety, tolerability, PD (ie, RGX-202 microdystrophin protein expression levels), PK (ie, vector DNA concentration), and clinical efficacy of RGX-202 when administered IV as a one-time dose to ambulant male pediatric participants with DMD. This study is being conducted in 3 parts: a phase 1/2 study (Part 1) and a 2-part phase 3 study (Parts 2 and 3) evaluating RGX-202 microdystrophin protein expression levels as a surrogate marker for clinical benefit as well as clinical efficacy based on functional assessments.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia

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  • TITLE: A Phase 1/2, Multicenter, Open-Label Study to Investigate the Safety, Tolerability, and Efficacy of a Single Intravenous Dose of SGT-003 in Males With Duchenne Muscular Dystrophy

    SPONSOR: Solid Biosciences Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: SGT-003

    PHASE: 1/2

    DESCRIPTION: Study SGT-003-101 (INSPIRE DUCHENNE) is a first-in-human (FIH) Phase 1/2 study to investigate the safety, tolerability, and efficacy of a single intravenous infusion of SGT-003 in pediatric male participants with DMD. Because of the early onset and progressive nature of DMD, it is expected that early intervention prior to significant loss of muscle mass and function will be more likely to slow or halt disease progression.

    STATUS: Active

    RECRUITING PATIENTS: Yes

    RDR LOCATION: Georgia

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  • TITLE: A Study to Compare Safety and Efficacy of a High Dose of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)

    SPONSOR: Sarepta Therapeutics, Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: MIS51ON 4658-402

    PHASE: 3b

    DESCRIPTION: This study will be comprised of 2 parts: Part 1 (dose escalation) will be conducted to evaluate the safety and tolerability of 2 doses (high dose level 1 and high dose level 2) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will be conducted for the selection of a high dose (high dose level 1 versus high dose level 2) and its comparison with the 30 milligrams/kilogram (mg/kg) dose of eteplirsen, in approximately 144 participants with genetically confirmed deletion mutations amenable to treatment by skipping exon 51.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

Past Trials

  • TITLE: A Phase 1/2, Randomized, Placebo-controlled, Double-blind, Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Effects of Single and Multiple Ascending Doses of AOC 1044 Administered Intravenously to Healthy Adult Volunteers and Participants with DMD Mutations Amenable to Exon 44 Skipping

    SPONSOR: Avidity Biosciences

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: Explore 44 AOC 1044-CS1

    PHASE: 1/2

    DESCRIPTION: AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants with DMD mutations amenable to exon 44 skipping.

    Part A is a single dose design with multiple cohorts (dose levels) in healthy adult volunteers.

    Part B is a multiple-ascending dose design with 3 cohorts (dose levels) in participants with Duchenne.

    STATUS: Completed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study

    SPONSOR: Italfarmaco

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: DSC 14/2357/51

    PHASE: 3 LT OL

    DESCRIPTION: 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.

    STATUS: Completed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: Two-Part Study for Dose Determination of SRP-5051 (Part A), Then Dose Expansion (Part B) in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment (MOMENTUM)

    SPONSOR: Sarepta Therapeutics, Inc.

    INDICATION: Duchenne Muscular Dystrophy

    PROTOCOL: Momentum 5051-201

    PHASE: 2

    DESCRIPTION: This study will be comprised of 2 parts: 1) Part A (Multiple Ascending Dose [MAD]) will be conducted to evaluate the safety and tolerability of SRP-5051 at MAD levels to determine doses to be administered in Part B, and 2) Part B will be conducted to further evaluate the SRP-5051 doses selected in Part A. Participants enrolling in Part B will be those who completed Part A or Study 5051-102 and meet applicable eligibility criteria for Part B, as well as additional participants who meet applicable eligibility criteria for enrollment at the beginning of Part B.

    STATUS: Closed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia