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.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Dosage of AAV neutralizing antibodies.
- Who it may be relevant to
- Registry conditions: Neuromuscular Deficits, Genetic Disorder. Basic parameters: 6 years — 60 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed description
This research aims to determine the seroprevalence and immunological profiles of recent and/or emerging AAV capsids that could be used in future gene therapy programs. It will thus make it possible to: 1/ improve knowledge of the prevalence of anti-AAV antibodies (total and neutralizing) in these specific populations; 2/ identify the clinical, demographic or biological factors likely to influence this seroprevalence (age, sex, type of pathology, immunosuppressive treatment followed); 3/ to characterize the phenomena of cross-reactivity between different serotypes or variants of capsids, a major challenge for the design of new generations of vectors.
The data generated will contribute to a better estimation of the populations potentially eligible for gene therapies, by making it possible to anticipate exclusion rates related to pre-existing immunity. They may also guide the rational selection of alternative capsids that are less immunogenic or evade cross-immunity, as well as the development of immunomodulation or re-assay strategies.
Interventions
- Diagnostic test Dosage of AAV neutralizing antibodies
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.
Primary outcome measures
- Percentage of patients with anti-AAV neutralizing antibodies [Time frame: Day 1]
Secondary outcome measures (3)
- To estimate seroprevalence in subgroups of patients (age; type of neuromuscular disease; gender; immunosuppressive therapy) [Time frame: Day 1]
- To analyze the co-prevalence between several AAV serotypes [Time frame: Day 1]
- Analyze the potential correlation between the presence of neutralizing antibodies and total antibody titer using cellular tests and ELISA method [Time frame: Day 1]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- Gene or cell therapy treatment prior to blood collection
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Screening
Study locations
France · 1 center
- GENETHON — Évry
Identifiers
NCT: NCT07633951 · GNT-020-SDM · ID RCB N° 2026-A00986-45