Spinal Musküler Atrofi (SMA) Tip 1 Hastalarının Tedavisinde Gen Tedavisi İlacının Güvenlilik ve Etkililik Değerlendirmesi

Sade dilde özet

Bu Faz 1/2 (Phase 1/2) çalışma, spinal musküler atrofi (spinal muscular atrophy) Tip 1 hastalarında GC101 gen tedavisi ilacının intratekal (omurilik sıvısına) uygulanmasının güvenliliğini ve etkililiğini değerlendiriyor. Çalışmaya, iki alelde de SMN1 mutasyonu (delesyon veya nokta mutasyonu) ve 2 kopya SMN2 taşıdığı genetik olarak doğrulanmış, hastalık belirtileri 6 aydan önce başlamış ve uygulama gününde 6 aylık veya daha küçük olan bebekler alınıyor. Katılımcı alımı sürüyor.

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

Deney bilgileri

Faz

PHASE1/PHASE2

Durum

Katılımcı alıyor

Sponsor

GeneCradle Inc

Müdahale

GC101

Başlangıç

25.02.2023

Tahmini bitiş

01.12.2026

Ülkeler

China

İlgili genler

Merkezler

• Beijing, China
• Beijing, China
• Shenyang, China
• Suzhou, China

Uygunluk kriterleri

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

Inclusion Criteria:

* Six months of age and younger on day of vector infusion with Type 1 SAM as defined by the following features:

  * Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN2;
  * Onset of disease before 6 months of age
* The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed.

Exclusion Criteria:

* Patient who has participated in a previous gene therapy research trials;
* Patient who has received Nusinersen and Risdiplam treatment;
* Patient who has AAV9 neutralizing antibody titer ≥1:200;
* Patient who requires non-invasive ventilatory support averaging≥16 hours/day;
* Patient with a point mutation in SMN2 (c.859G\>C);
* Patient who requires non-invasive ventilatory support averaging≥16 hours/day at screening;
* Patient who use invasive ventilatory support or pulse oximetry \< 95% saturation while awake and calm at screening;
* Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
* Abnormal laboratory values considered clinically significant, including gamma-glutamyl transferase(GGT), Aspartate aminotransferase (AST), alanine aminotransferase (ALT), bilirubin \> 3x upper limit of normal (ULN), Hemoglobin (Hgb)\< 110 or \>150 g/L, platelet \<183x10\^9/L or 614x10\^9/L;
* Class IV patient based on Modified Ross Heart Failure Classification for Children;
* Patient with a history of glucocorticoid allergy;
* Contraindication that would interfere with the lumbar puncture procedures;
* Presence of an untreated active infection requiring systemic antiviral therapy at any time during the screening period;
* Vaccination less than 2 weeks before infusion of vector;
* Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the Investigator, makes the subject unsuitable for participation in the study.

Note: Other protocol defined inclusion/exclusion criteria may apply.