Fibro TG-HD-Gene Therapy Development and Validation for Huntington's Disease
Recruiting
This project aims to validate the therapy of trans-splicing of Huntingtin gene transcripts, and will evaluate its therapeutic effects in vitro(in a dish), into primary fibroblast cell lines taken from skin biopsies of Huntington’s disease patients.
Trans-splicing gene therapy is defined as the correction of a mutated endogenous pre-messenger RNA(copy of a gene that is naturally present within the cell) by a therapeutic exogenous pre-messenger RNA(copy of a gene that is introduced into the cell from outside)
Ages Eligible
for Study:
18 Years to 70 Years (Adult, Older Adult )
Sexes Eligible
for Study:
All
Accepts Healthy Volunteers:
No
- 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.
- 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).
LOCATIONS
FRANCE
TRIAL SITE:
Angers, Maine et Loire
Address: France
Contact: Charlotte ABRIAL, PhD