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AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT05693142
Recruitment Status : Recruiting
First Posted : January 20, 2023
Last Update Posted : May 17, 2024
Information provided by (Responsible Party):

Brief Summary:

RGX-202 is a gene therapy designed to deliver a transgene for a novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain.

This is a multicenter, open-label dose evaluation clinical study to assess the safety, tolerability and clinical efficacy of a one-time intravenous (IV) dose of RGX-202 in participants with Duchenne.

Condition or disease Intervention/treatment Phase
Duchenne Muscular Dystrophy Genetic: RGX-202 Phase 1 Phase 2

Detailed Description:

Duchenne muscular dystrophy (Duchenne) is a rare genetic disorder, caused by mutations in the gene responsible for making dystrophin, a protein of central importance for muscle cell structure and function. The absence of functional dystrophin protein in individuals with Duchenne results in cell damage during muscle contraction leading to cell death, inflammation, and fibrosis in muscle tissues, and ultimately progressive muscle weakness. RGX-202 is designed to use the AAV8 vector to deliver a transgene to muscle cells that encodes a novel microdystrophin that includes the functional elements of naturally occurring dystrophin including the C-Terminal (CT) domain. This is a Phase 1/2, multicenter, open-label, dose evaluation clinical study to assess the safety, tolerability, pharmacodynamics (microdystrophin protein levels), pharmacokinetics, and preliminary clinical efficacy of RGX-202 in 2 dose groups over 52 weeks when administered by one-time intravenous infusion (IV) in ambulatory male pediatric participants with Duchenne.

Four ambulatory, pediatric participants (ages 4-11 years old) with Duchenne are expected to enroll in two dose groups, with doses of 1x10^14 genome copies (GC)/kg body weight (n=2) and 2x10^14 GC/kg body weight (n=2). The first 2 participants in each dose group will be dosed in staggered fashion, at least 4 weeks apart, following increasing body weight: ≤25kg and ≤35kg. After an independent safety data review for each dose group, an expansion phase of the trial may allow for up to seven additional participants to be enrolled at each dose (for a total of up to nine participants in each dose group). A total of up to 18 participants may be enrolled in the study.

A comprehensive, short-term, prophylactic immunosuppression regimen will be administered during treatment to mitigate a potential immune response.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 18 participants
Allocation: Non-Randomized
Intervention Model: Sequential Assignment
Intervention Model Description: Dose Evaluation
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Phase 1/2 Open-label, Dose Escalation and Dose Expansion Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Intravenous RGX-202 Gene Therapy in Males With Duchenne Muscular Dystrophy (DMD)
Actual Study Start Date : January 4, 2023
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Arm Intervention/treatment
Experimental: RGX-202 Dose 1
A single IV infusion of RGX-202 at a dose of 1×10^14 GC/kg body weight
Genetic: RGX-202
RGX-202 is a recombinant AAV8 containing a transgene encoding a novel microdystrophin

Experimental: RGX-202 Dose 2
A single IV infusion of RGX-202 at a dose of 2x10^14 GC/kg body weight
Genetic: RGX-202
RGX-202 is a recombinant AAV8 containing a transgene encoding a novel microdystrophin

Primary Outcome Measures :
  1. Safety measured by incidence of Adverse Events and Serious Adverse Events [ Time Frame: 52 weeks ]
    Evaluate incidences of AEs and SAEs

Secondary Outcome Measures :
  1. Efficacy measured by change in Functional Assessment [ Time Frame: Multiple timepoints through 52 weeks ]
    Longitudinal trajectory (mean and change from baseline) in North Star Ambulatory Assessment (NSAA) raw and total score

  2. Microdystrophin protein expression [ Time Frame: 12 weeks ]
    RGX-202 microdystrophin protein levels determined in muscle biopsy and vector genome concentrations in muscle

  3. Pharmacokinetics (PK) [ Time Frame: Multiple timepoints through 52 weeks ]
    Vector genome concentrations as measured by polymerase chain reaction [PCR] to RGX-202 deoxyribonucleic acid [DNA] in serum.

  4. Vector Shedding [ Time Frame: Multiple timepoints through 52 weeks ]
    Vector genome concentrations as measured by polymerase chain reaction [PCR] to RGX-202 deoxyribonucleic acid [DNA] in urine.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   4 Years to 11 Years   (Child)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • DMD gene mutation in exons 18 and above, and a clinical picture consistent with typical DMD.
  • Participant is able to walk 100 meters independently without assistive devices, as assessed at screening.
  • Participant is able to complete the TTSTAND per protocol-specific criteria.
  • Participant has been on a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks prior to obtaining the pharmacodynamic assessments, imaging assessments, patient-reported outcomes, and functional clinical outcome assessments within the Day -60 to Day -3 screening period.
  • Clinical laboratory test results, including hepatic and renal function, are within the normal range during screening, or if abnormal, are not clinically significant, in the opinion of the investigator.

Exclusion Criteria:

  • Participant has any condition that would contraindicate treatment with immunosuppression.
  • Participant has received ataluren (a protein restoration therapy) or an exon-skipping therapy for the treatment of DMD within 6 months of study entry or is unable to refrain from taking ataluren or exon-skipping therapy for a duration of 5 years from the time of RGX-202 administration.
  • Participant has received any investigational or commercial gene therapy product over his lifetime.
  • Participant is currently taking any other investigational intervention or has taken any other investigational intervention within 3 months prior to the scheduled Day 1 intervention.
  • Participant has detectable AAV8 total binding antibodies in serum.
  • Participant has impaired cardiac function defined as a left ventricular ejection fraction of < 55% on screening cardiac assessments (echocardiogram or MRI).
  • Participant is not a good candidate for the study, in the opinion of the investigator.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05693142

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Contact: Patient Advocacy (833) 711-0349

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United States, Arkansas
Arkansas Children's Hospital Recruiting
Little Rock, Arkansas, United States, 72202
Contact: Amber Evans    501-364-2259   
Principal Investigator: Aravindhan Veerapandiyan, MD         
United States, California
Stanford School of Medicine /Division of Neuromuscular Medicine Recruiting
Palo Alto, California, United States, 94304
Contact: Yan Yang    650-206-3180   
Principal Investigator: Carolina Tesi-Rocha, MD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
Contact: Molly Gallivan    312-227-3813   
Principal Investigator: Vamshi Rao, MD         
United States, Texas
The University of Texas Southwestern Medical Center Recruiting
Dallas, Texas, United States, 75390
Contact: Elaine Most    214-456-2463   
Principal Investigator: Susan Iannaccone, MD         
United States, Virginia
Children's Hospital of Richmond at Virginia Commonwealth University Recruiting
Richmond, Virginia, United States, 23298-0211
Contact: Mehreen Qureshi    804-628-7917   
Principal Investigator: Amy Harper, MD         
Sponsors and Collaborators
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Responsible Party: REGENXBIO Inc. Identifier: NCT05693142    
Other Study ID Numbers: RGX-202-1101
First Posted: January 20, 2023    Key Record Dates
Last Update Posted: May 17, 2024
Last Verified: May 2024

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by REGENXBIO Inc.:
Gene therapy
Duchenne Muscular Dystrophy
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked