Gene Therapy Development and Validation for Huntington's Disease Fibro TG-HD

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.

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Key information

Conditions

Huntington Disease Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Chorea Cognition Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dyskinesias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Mental Disorders Movement Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases

Age range

18 year–70 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

ABRIAL

Angers, Maine et Loire, 49933, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

skin biopsy

Procedure

skin biopsy

Primary outcomes

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

Correction of mutated endogenous transcripts.

Secondary outcomes

Quantify the expression of Huntingtin protein (HTT) and its (in)usual protein partners.

Time frame: At the inclusion

At the inclusion

Sponsors and collaborators

Lead sponsor

University Hospital, Angers

Other Gov

Registry information

Acronym: FibroTG-HD

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Jun 5, 2024
Registry last updated: Aug 10, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed