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

December 9, 2024 updated by: University Hospital, Angers
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

20

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Huntington's patient
skin biopsy
Procedure: skin biopsy
skin biopsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
At the inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Quantify the expression of Huntingtin protein (HTT) and its (in)usual protein partners.
Time Frame: At the inclusion
At the inclusion
At the inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Angers

Investigators

  • Principal Investigator: VERNY Christophe, MD, PhD, University Hospital, Angers

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 23, 2024

Primary Completion (Estimated)

July 23, 2026

Study Completion (Estimated)

July 23, 2028

Study Registration Dates

First Submitted

May 30, 2024

First Submitted That Met QC Criteria

May 30, 2024

First Posted (Actual)

June 5, 2024

Study Record Updates

Last Update Posted (Estimated)

December 13, 2024

Last Update Submitted That Met QC Criteria

December 9, 2024

Last Verified

October 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2024-A00877-40

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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