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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT06444217
Recruitment Status : Not yet recruiting
First Posted : June 5, 2024
Last Update Posted : June 6, 2024
Information provided by (Responsible Party):
University Hospital, Angers

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Huntington Disease Procedure: skin biopsy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Gene Therapy Development and Validation for Huntington's Disease Fibro TG-HD
Estimated Study Start Date : July 1, 2024
Estimated Primary Completion Date : July 1, 2026
Estimated Study Completion Date : July 1, 2028

Arm Intervention/treatment
Experimental: Huntington's patient
skin biopsy
Procedure: skin biopsy
skin biopsy

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. Quantify the expression of Huntingtin protein (HTT) and its (in)usual protein partners. [ Time Frame: At the inclusion ]
    At the inclusion

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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).

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT06444217

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Contact: Charlotte ABRIAL, PhD ext 33
Contact: Anne-Catherine AUBE-NATHIER, PhD 02 41 34 54 96 ext 33

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Angers, Maine Et Loire, France, 49933
Contact: ABRIAL Charlotte, PhD ext 33   
Contact: Anne-Catherine AUBE-NATHIER, PhD    02 41 35 54 96 ext 33   
Sponsors and Collaborators
University Hospital, Angers
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Principal Investigator: VERNY Christophe, MD, PhD University Hospital, Angers
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Responsible Party: University Hospital, Angers Identifier: NCT06444217    
Other Study ID Numbers: 2024-A00877-40
First Posted: June 5, 2024    Key Record Dates
Last Update Posted: June 6, 2024
Last Verified: May 2024

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Angers:
gene therapy
Additional relevant MeSH terms:
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Huntington Disease
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cognition Disorders
Neurocognitive Disorders
Mental Disorders