Duchenne Musküler Distrofisinde GEN6050X'in Güvenliliğini ve Tolere Edilebilirliğini Değerlendiren Çalışma

Sade dilde özet

Bu çalışma, Duchenne musküler distrofisi (Duchenne muscular dystrophy, DMD) olan çocuklarda damar yoluyla verilen GEN6050X adlı bir gen terapisinin güvenliliğini ve tolere edilebilirliğini değerlendirmektedir. Çalışmaya, DMD geninde exon 50 atlamaya uygun belirli delesyon tiplerini taşıyan, bağımsız yürüyebilen 4-10 yaş arası erkek çocuklar alınmıştır. Çalışma Erken Faz 1 aşamasında yürütülmekte; şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Erken Faz 1 (Early Phase 1)

Durum

Devam ediyor, katılım kapalı

Sponsor

Peking Union Medical College Hospital

Müdahale

GEN6050X intravenous injection

Başlangıç

05.07.2024

Tahmini bitiş

01.12.2027

Ülkeler

China

İlgili genler

Merkezler

• Beijing, China

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

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.