Multicenter Epidemiological Study for the Evaluation of the Seroprevalence of Total and Neutralizing Antibodies Against Adenoassociated Virus Serotypes Used in Gene Therapy in Patients With Neuromuscular Diseases of Genetic Origin.

NCT07633951 | Not Yet Recruiting

• 2 other identifiers: GNT-020-SDMID RCB N° 2026-A00986-45
• Study Type: interventional
• Target: 450
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to assess the overall seroprevalence of neutralizing antibodies against different AAVs potentially used in gene therapy in patients with genetic neuromuscular diseases.

Conditions

Neuromuscular Deficits; Genetic Disorder

Keywords

AAV; Seroprevalence; Nab; Tab; neuromuscular; Genetic disorder

Outcome Measures

Primary Outcomes (1)

• Percentage of patients with anti-AAV neutralizing antibodies

  The primary endpoint is the percentage of patients who tested positive for neutralizing antibodies against multiple AAVs that can be used in gene therapy.

  Day 1

Secondary Outcomes (3)

• To estimate seroprevalence in subgroups of patients (age; type of neuromuscular disease; gender; immunosuppressive therapy)

  Day 1

• To analyze the co-prevalence between several AAV serotypes

  Day 1

• Analyze the potential correlation between the presence of neutralizing antibodies and total antibody titer using cellular tests and ELISA method

  Day 1

Study Arms (1)

Cohort of 450 patients with neuro-muscular disease for AAV sero-analysis

OTHER

Diagnostic Test: Dosage of AAV neutralizing antibodies

Interventions

Dosage of AAV neutralizing antibodies DIAGNOSTIC_TEST

In each clinical site, the principal investigator will propose to his patients with neuromuscular disease of genetic origin to take a blood sample (4 mL of blood) to determine their level of immunity to certain AAVs used in gene therapy. The collected samples will be prepared and aliquoted on site and then sent frozen to the GENETHON laboratory for analysis. Only one sample per patient will be analyzed. All samples will be analyzed in batches.

Cohort of 450 patients with neuro-muscular disease for AAV sero-analysis

Eligibility Criteria

• Age: 6 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Pediatric patient 6 years of age or older or adult under 60 years of age with genetic neuromuscular disease
• Informed patient who signed informed consent
• No opposition from the holders of parental authority or guardian, for minor patients.
• Affiliated/beneficiary of a national health insurance scheme

You may not qualify if:

• Gene or cell therapy treatment prior to blood collection

Sponsors & Collaborators

• Genethon: lead

Study Sites (1)

GENETHON

Évry, Île-de-France Region, 9100, France

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 26, 2026
• First Posted: June 8, 2026
• Study Start: July 31, 2026
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: June 8, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)