pharma · Duchenne Muscular Dystrophy · Muscular Dystrophy, Duchenne · SRPT
Sarepta Therapeutics is a pharma organization headquartered in Cambridge, USA. It trades on NYSE under ticker SRPT. Primary therapeutic focus areas include Duchenne Muscular Dystrophy, Muscular Dystrophy, Duchenne, Duche
Phase 1 · small molecule · Dysferlinopathy
rAAVrh74.MHCK7.DYSF.DV is a gene therapy candidate developed by Sarepta Therapeutics for the treatment of dysferlinopathy, a rare genetic muscle disorder. The program is based on recombinant adeno-associated virus (rAAV) technology designed to deliver functional dysferlin gene sequences to affected muscle tissue. As of
Internal code IRB15-00669
rAAVrh74.MHCK7.DYSF.DV is a gene therapy candidate developed by Sarepta Therapeutics for the treatment of dysferlinopathy, a rare genetic muscle disorder. The program is based on recombinant adeno-associated virus (rAAV) technology designed to deliver functional dysferlin gene sequences to affected muscle tissue. As of May 2021, the program has completed Phase 1 clinical evaluation. Dysferlinopathy represents a significant unmet medical need, as it is a progressive muscular dystrophy with limited therapeutic options. Sarepta's approach leverages its established expertise in gene therapy for neuromuscular diseases. The program's completion of Phase 1 represents an important milestone in validating the safety and preliminary efficacy profile of this investigational therapy. Further development plans and regulatory timelines have not yet been disclosed.
Dysferlinopathy is a rare inherited muscular dystrophy caused by mutations in the DYSF gene, resulting in deficiency of the dysferlin protein. This leads to progressive muscle weakness and degeneration, significantly impacting patient quality of life and mobility. The disease affects a limited but underserved patient population with few approved therapeutic options, representing a clear unmet medical need. Sarepta's gene therapy approach addresses the root cause by restoring dysferlin protein expression, potentially offering disease-modifying benefits rather than symptomatic management alone. Success in this indication would expand Sarepta's portfolio in rare neuromuscular diseases and validate its rAAV platform for additional genetic muscle disorders. The commercial significance is tied to the orphan disease designation and potential for premium pricing in rare disease markets, though the addressable patient population remains limited. Competitive positioning in rare muscular dystrophies is evolving, with multiple gene therapy approaches in development across the sector.
Drug Class: Recombinant adeno-associated virus (rAAV) gene therapy
Modality: Gene therapy (viral vector-based)
Target: DYSF gene; mechanism of action and specific molecular target not yet disclosed
Route of Administration: Not yet disclosed
Related Therapies: Other gene therapy approaches for muscular dystrophies; mechanism-specific competitors not identified in available facts
Patent Status: Not yet disclosed
First Approval: Not yet approved; Phase 1 completed as of May 2021
Also known as: dysferlinopathy, qualitative or quantitative defects of dysferlin
ClinicalTrials.gov lists 50 registered studies for Neuromuscular Disease (AACT aggregate).
Phase breakdown: NA (38), PHASE1 (4), PHASE2 (4), PHASE1/PHASE2 (2), PHASE3 (1), PHASE4 (1)
Common investigational therapies:
Disease data sourced from MONDO Disease Ontology (MONDO:0016145), Orphanet — neuromuscular disease caused by qualitative or quantitative defects of dysferlin, NCT00001201, NCT00004553, NCT00015470, NCT00017745, NCT00252252, AACT (ClinicalTrials.gov aggregate), ClinicalTrials.gov, Open Targets Platform (CC BY 4.0).
Phase 1 Completion
Phase 1 clinical trial (NCT02710500) for rAAVrh74.MHCK7.DYSF.DV in dysferlinopathy completed.
The competitive landscape for dysferlinopathy therapeutics is limited, reflecting the rarity of the disease and early stage of development for most candidates. Sarepta Therapeutics holds a significant position in rare neuromuscular disease gene therapy through its established portfolio and platform expertise. No direct competitors are identified in the available facts for this specific program. The broader competitive context includes other gene therapy developers pursuing treatments for inherited muscular dystrophies, though specific competing programs and their development status are not disclosed in the current information.
| Therapy | Company | Mechanism | Status |
|---|---|---|---|
| DEFLAZACORT | — | Glucocorticoid receptor agonist | Phase 2 |
| BORTEZOMIB | — | 26S proteosome inhibitor | Phase 1 |
Additional associated therapies sourced from Open Targets Platform (CC0), linked to NovaPharmaNews drug profiles where matched.
FDA Status: Not yet disclosed; program remains in clinical development following Phase 1 completion
EMA Status: Not yet disclosed
PMDA (Japan) Status: Not yet disclosed
NMPA (China) Status: Not yet disclosed
Orphan Designation: Status not yet disclosed
Development Stage: Phase 1 completed as of May 2021; next regulatory milestones and timelines not yet disclosed
rAAVrh74.MHCK7.DYSF.DV is an investigational gene therapy being developed to treat dysferlinopathy, a rare inherited muscular dystrophy caused by dysferlin protein deficiency.
Sarepta Therapeutics is the sponsor and developer of rAAVrh74.MHCK7.DYSF.DV.
The program has completed Phase 1 clinical evaluation as of May 2021. Further development milestones and timelines have not yet been disclosed.
No, rAAVrh74.MHCK7.DYSF.DV is not yet approved. It remains in clinical development following Phase 1 completion.
The specific mechanism of action has not yet been disclosed, though the program is designed to deliver functional dysferlin gene sequences to muscle tissue using rAAV technology.
rAAVrh74.MHCK7.DYSF.DV is a recombinant adeno-associated virus (rAAV) gene therapy, a viral vector-based approach to deliver genetic material.
NCT02710500 is the Phase 1 clinical trial for rAAVrh74.MHCK7.DYSF.DV in dysferlinopathy patients, which has been completed.
Dysferlinopathy is a rare genetic muscular dystrophy caused by dysferlin protein deficiency, leading to progressive muscle weakness and degeneration. It represents a significant unmet medical need with limited therapeutic options.
Orphan drug designation status has not yet been disclosed in available information.
Expected next milestones and timelines have not yet been disclosed. Future development plans remain to be announced.
Specific competing programs for dysferlinopathy are not identified in available facts. The competitive landscape for this rare disease remains limited.
The Phase 1 trial was designed to evaluate safety and tolerability; specific primary endpoints have not been detailed in available information.
Specific enrollment numbers for NCT02710500 have not been disclosed in available facts.
The route of administration has not yet been disclosed.
No partner has been identified for this program in available information.
Commercial potential is tied to the orphan disease designation and premium pricing in rare disease markets, though the addressable patient population is limited. Specific sales projections have not been disclosed.
rAAVrh74.MHCK7.DYSF.DV → Drug → Target → Indication → Company → Trials → Competitors
Strategic Implications: Completion of Phase 1 for rAAVrh74.MHCK7.DYSF.DV validates Sarepta's rAAV platform for dysferlinopathy and expands its rare neuromuscular disease pipeline. The program represents a strategic entry into an underserved indication with limited competition.
Development Trajectory: Phase 1 completion suggests the candidate has met initial safety thresholds, though efficacy data and next-phase timelines remain undisclosed. Future catalysts will include Phase 2 initiation, interim efficacy readouts, and regulatory guidance on development pathways.
Competitive Positioning: As a rare disease gene therapy, rAAVrh74.MHCK7.DYSF.DV faces limited direct competition but must demonstrate meaningful clinical benefit to justify premium pricing and market adoption. Success depends on durability of effect, safety profile, and patient accessibility.
Unmet Needs: Dysferlinopathy lacks disease-modifying therapies, creating significant opportunity for a functional gene therapy approach. Patient population size and natural history understanding will inform commercial potential.
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Intelligence compiled from public regulatory and clinical sources (FDA, EMA, ClinicalTrials.gov and company disclosures). Figures may be editorial or analyst estimates; verify against primary sources before relying on them.