Gene Therapy Development and Validation for Huntington's Disease Fibro TG-HD
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: skin biopsy.
- Who it may be relevant to
- Registry conditions: Huntington Disease. Basic parameters: 18 years — 70 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 →
Unsure about the terms? Read our patient guide →
Overview
Huntington's disease is a rare and fatal monogenic neurodegenerative disorder whose molecular origin is an expansion of CAG triplets within the first exon of the Huntingtin gene. Although a growing number of emerging therapies are in clinical trials, there are no proven neuroprotective or curative treatments approved by the health authorities, as they have not yet demonstrated any real therapeutic benefit or absence of toxicity. Trans-splicing gene therapy is defined as the correction of a mutated endogenous pre-messenger RNA by a therapeutic exogenous pre-messenger RNA. Trans-splicing is a suitable alternative approach, since it is capable of allelic selectivity and replacement of mutated sequences by the wild-type one, criteria that no therapy tested to date meets. This project involves the therapeutic validation of trans-splicing of Huntingtin gene transcripts, and will evaluate its therapeutic effects in vitro, into primary fibroblast cell lines derived from skin biopsies of Huntington's disease patients.
Interventions
- Procedure skin biopsy
skin biopsy
Primary outcome measures
- In vitro validation of a RNA trans-splicing gene therapy for the correction of supernumerary CAG repeats into fibroblasts derived from skin biopsies of patients with Huntington's disease. [Time frame: At the inclusion]
Secondary outcome measures (1)
- Quantify the expression of Huntingtin protein (HTT) and its (in)usual protein partners. [Time frame: At the inclusion]
Eligibility criteria
Inclusion criteria
- 18 ≤ age ≤ 70 years.
- Signed written, free and informed consent to participate in the study.
- Patients with a CAG≥36 allele (with reduced or full penetrance). penetrance)
- People affiliated to or benefiting from a social security scheme.
Exclusion criteria
- Individuals who have participated in a gene therapy trial using AAV, ASO, mi/si/shRNA administration, likely to disrupt expression, splicing of pre-mRNAs, mRNA splicing, mRNA expression/regulation/translation, energy or protein metabolism directly or indirectly linked to the Huntingtin gene (HTT), its transcripts and proteins.
- Clinical or paraclinical elements that may suggest a differential diagnosis.
- People unable to express their consent.
- Pregnant, breast-feeding or parturient women
- People deprived of liberty by administrative or judicial decision
- People under legal protection (curatorship, guardianship).
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
- Basic science
Study locations
France · 1 center
- ABRIAL — Angers
Identifiers
NCT: NCT06444217 · 2024-A00877-40