N- Homocysteinylated Huntingtin in Huntington's Disease (HO-HD)

March 8, 2022 updated by: RENAUD Mathilde, Central Hospital, Nancy, France

N-homocysteinylated Huntingtin in Huntington's Disease

Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts:

  1. presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin),
  2. symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
  3. human control cell lines, unmutated Huntingtin

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Detailed Description

Prospective inclusions of 32 subjects with 24 symptomatic HD patients and 8 presymptomatic HD patients.Rationale: This is a pilot study in humans. Over a period of 2 years, the potential recruitment should make it possible to include 32 patients This number will make it possible to calculate the overall variability of the dosage and to have statistics of position and dispersion in the 2 subgroups identified.

Controls: Eight standardized cell lines from human fibroblasts

Study Type

Interventional

Enrollment (Anticipated)

32

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

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

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Patient with the symptomatic or presymptomatic Huntington's disease gene (CAG >= 36)
  • Molecularly confirmed Huntington's disease
  • Patient 18 years of age and older
  • Person affiliated to or benefiting from a social security assurance

Exclusion Criteria:

  • Person deprived of liberty by a judicial or administrative decision, persons subject to psychiatric care pursuant to Articles L. 3212-1 and L. 3213-1
  • Pregnant woman, parturient or nursing mother
  • Women of childbearing potential who do not have effective contraception
  • Intellectual deterioration preventing the understanding of research

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: Non-Randomized
  • Interventional Model: Factorial Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)
Other: skin biopsy
skin biopsy
Experimental: symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
Other: skin biopsy
skin biopsy
Experimental: human control cell lines, Unmutated Huntingtin
Other: skin biopsy
skin biopsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Huntingtin homocysteinylated level
Time Frame: Through study completion, an average of 2 years
measures the interaction between Homocysteine and Huntingtin in fibroblasts
Through study completion, an average of 2 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Blood levels of B9, B12
Time Frame: Through study completion, an average of 2 years
Blood levels of B9, B12
Through study completion, an average of 2 years
Blood levels of homocysteinemia
Time Frame: Through study completion, an average of 2 years
Blood levels of homocysteinemia
Through study completion, an average of 2 years

Collaborators and Investigators

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

Sponsor

Central Hospital, Nancy, France

Investigators

  • Principal Investigator: Mathilde Renaud, CHRU Nancy

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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 (Anticipated)

April 1, 2022

Primary Completion (Anticipated)

May 1, 2023

Study Completion (Anticipated)

May 1, 2023

Study Registration Dates

First Submitted

January 11, 2022

First Submitted That Met QC Criteria

January 25, 2022

First Posted (Actual)

February 4, 2022

Study Record Updates

Last Update Posted (Actual)

March 9, 2022

Last Update Submitted That Met QC Criteria

March 8, 2022

Last Verified

March 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2021-A00407-34

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

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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