A Single-arm, Open-label, Single-center Study to Evaluate the Safety and Tolerability of Intravenous GEN6050X Gene Therapy in Ambulatory Boys With Duchenne Muscular Dystrophy (DMD).

Trial ID: NCT06392724

Interventional - Phase 1 - Active, not recruiting

The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.

Conditions

• Duchenne Muscular Dystrophy (DMD)

Interventions

• GEN6050X intravenous injection

Eligibility

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.

Sponsor

Peking Union Medical College Hospital

Source: ClinicalTrials.gov

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