ATA-200 gene therapy trial in patients with LGMDR5

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 6

Inclusion Criteria

Ambulant male or female patients at least 6 and less than 12 years of age at screening, Confirmed LGMDR5 diagnosis before age of 10, based on clinical presentation and genotyping identifying the SGCG gene mutations, Able to Perform the 10-meter walk test (10MWT) within 15 sec without help, such as cane, or bilateral help, such as elbow crutches or orthotic devices below the knees and to rise from a standard-height chair with or without arm support, Signed written informed consent before any study related procedure is performed, Patient medical status sufficiently stable and ability of patient and parents/legal guardian, in the opinion of the investigator, to adhere to the study visits schedule and other protocol requirements., Seronegative patients for neutralizing antibodies against AAV8

Exclusion Criteria

Previous participation in gene and cell therapy trials, Inability to cooperate with muscle testing or to perform respiratory function tests, Presence or history of concomitant muscular or other medical condition that might interfere with LGMDR5 evolution or that would confound scientific rigor or interpretation of results, e.g., current infectious episode (pulmonary, ENT, etc.), abnormal laboratory test if clinically significant, Current or history of significant heart, lung, hepato-biliary or renal disease or impairment that jeopardize the safety of the subject according to the investigator, Acute illness within 4 weeks of the anticipated IMP administration which may interfere with study assessments, Current participation in a clinical trial of another investigational medicinal product, Any condition that would contraindicate treatment with immunosuppressant therapy, Presence of any permanent items (e.g., metal braces) precluding undergoing MRI, Any vaccination 1 month prior to the planned IMP administration, Serology consistent with HIV exposure or active hepatitis B or C infection, Grade 2 or higher lab abnormalities for LFT (except isolated AST increase), bilirubin, creatinine, hemoglobin, WBC count, platelet count, PT, and a PTT, according to current version of CTCAE. Isolated AST increase associated with CK levels > 800 U/L, ALT < 2 x ULN, and GLDH within normal range, is not exclusionary., Known hypersensitivity to IMP excipients, to eculizumab, murine proteins, or any excipients in eculizumab formulation, and to contrast media, Cardiomyopathy based on physical and cardiological examination and echocardiography with Left Ventricular Ejection Fraction (LVEF) below 50%, Any respiratory assistance, including non-invasive daytime or nocturnal ventilation

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Secondary Objective: To collect preliminary efficacy data;Primary end point(s): incidence of AEs recording throughout the study, incidence of clinically relevant abnormalities detection in vital signs, physical examination findings, vital signs, myalgia assessment, cardiac assessment, laboratory determinations;Main Objective: to assess the safety and tolerability of intravenous administration ATA-200 in pediatric ambulant patients with LGMDR5 at two different dosage levels and to select the recommended dose for future studies.

Secondary Outcome Measures