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Gene Therapy Trial Report

Summary

A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.


NCTID NCT06392724 (View at clinicaltrials.gov)
Description
Development Status Active
Indication Duchenne Muscular Dystrophy (DMD)
Disease Ontology Term DOID:11723
Compound Name GEN6050X
Sponsor Peking Union Medical College Hospital
Funder Type Other
Recruitment Status
Active not recruiting
Enrollment Count 3 (ESTIMATED)
Results Posted Not Available

Therapy Information


Target Gene/Variant DMD
Therapy Type Gene editing
Therapy Route In-vivo
Mechanism of Action Exon skipping/splice editor
Route of Administration Intravenous
Drug Product Type Viral vector
Delivery System Viral transduction
Vector Type dual AAV9
Editor Type eTAM
Dose 1 5E13 vg/kg body weight

Study Record Dates


Current Stage Early phase1
Submit Date 2024-04-26
Completion Date 2027-12
Last Update 2025-07-29

Participation Criteria


Eligible Age 4 Years - 10 Years
Standard Ages Child
Sexes Eligible for Study MALE
Eligibility Criteria
Inclusion Criteria: 1. Subject age: 4-10 years old (including 10 years old) 2. Gender: Male 3. Patients with DMD gene exon deletion types confirmed by molecular diagnosis: 8-49, 20-49, 22-49, 51, 51-53, 51-55, 51-57, 51-59, 51-60, 51-67, 51-69, 51-75 or 51-78 and other mutations amenable to exon 50 skipping. 4. The participant is able to walk independently and completes the 10-meter walk test without assistance. 5. Participant is able to complete time to stand from supine independently in less than 30s. 6. The participant is able to cooperate with motor assessment testing. 7. Receipt of glucocorticoids for 6 months and a stable daily dose for at least 12 weeks prior to study entry 8. Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures. Exclusion Criteria: 1. Participants are in the active period of viral infection, including infections such as TORCH virus, Epstein-Barr(EB) virus, and severe acute respiratory syndrome coronavirus 2 (SARS-COV-2). 2. Received a live attenuated vaccine within 3 months prior to receiving GEN6050X, or was exposed to an influenza (or other inactivated) vaccine within 30 days prior to receiving GEN6050X, or received systemic antiviral, anti-infective, and/or interferon therapy. 3. Serological tests found HIV, Hepatitis B Virus(HBV), hepatitis C virus(HCV), and syphilis infection. 4. Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks prior to receiving gene therapy. 5. With clear symptoms of cardiomyopathy, echocardiography shows that the left ventricular ejection fraction is less than 40%. 6. Need for continuous or intermittent assisted support from a ventilator. 7. Diagnosed with autoimmune disease or receiving related treatment for autoimmune disease. 8. The following indicators are abnormal in laboratory biochemical testing: γ-glutamyl transpeptidase (GGT) above the 2-fold upper limit and total bilirubin above 1.5 times the upper limit, cystatin C (cystatin C) \> 1.27 mg/L, hemoglobin (Hgb) \< 100 or \>200 g/L; Leukocytes (WBC) \> 18.5×10\^9/L or platelet ≤ 125×10\^9/L. 9. The titer of AAV9 neutralizing antibody determined by cell suppression assay \> 1:50. 10. Patients have received any gene therapy (e.g., adeno associated virus(AAV) gene therapy), cell therapy (e.g., stem cell transplantation), in vivo editing, or ex vivo editing therapy (e.g., CRISPR-Cas9, TALEN) in the past. 11. Participant has any contraindication to immunosuppressive therapy. 12. Has a medical condition or extenuating circumstance that, in the opinion of the principal investigator, is unsuitable for participation in the clinical trial. 13. The family does not wish to disclose the patient's study participation to the attending physician and other medical providers.
View Inclusion and Exclusion Criteria at ClinicalTrials.gov

Locations


No.of Trial Sites 1
Locations China

Regulatory Information


Has US IND False
FDA Designations Orphan Drug Designation, Rare Pediatric Disease Designation
Recent Updates Drug is being developed by GenAssist Ltd, initial results from 3 ambulatory patients announced November 2025

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