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

Primary Purpose

Huntington Disease

Status
Not yet recruiting
Phase
Not Applicable
Locations
Study Type
Interventional
Intervention
skin biopsy
Sponsored by
Central Hospital, Nancy, France
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Huntington Disease focused on measuring homocysteinemia

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

    Arms of the Study

    Arm 1

    Arm 2

    Arm 3

    Arm Type

    Experimental

    Experimental

    Experimental

    Arm Label

    presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)

    symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)

    human control cell lines, Unmutated Huntingtin

    Arm Description

    presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)

    symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)

    human control cell lines, Unmutated Huntingtin

    Outcomes

    Primary Outcome Measures

    Huntingtin homocysteinylated level
    measures the interaction between Homocysteine and Huntingtin in fibroblasts

    Secondary Outcome Measures

    Blood levels of B9, B12
    Blood levels of B9, B12
    Blood levels of homocysteinemia
    Blood levels of homocysteinemia

    Full Information

    First Posted
    January 11, 2022
    Last Updated
    March 8, 2022
    Sponsor
    Central Hospital, Nancy, France
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    1. Study Identification

    Unique Protocol Identification Number
    NCT05225051
    Brief Title
    N- Homocysteinylated Huntingtin in Huntington's Disease
    Acronym
    HO-HD
    Official Title
    N-homocysteinylated Huntingtin in Huntington's Disease
    Study Type
    Interventional

    2. Study Status

    Record Verification Date
    March 2022
    Overall Recruitment Status
    Not yet recruiting
    Study Start Date
    April 1, 2022 (Anticipated)
    Primary Completion Date
    May 1, 2023 (Anticipated)
    Study Completion Date
    May 1, 2023 (Anticipated)

    3. Sponsor/Collaborators

    Responsible Party, by Official Title
    Principal Investigator
    Name of the Sponsor
    Central Hospital, Nancy, France

    4. Oversight

    Studies a U.S. FDA-regulated Drug Product
    No
    Studies a U.S. FDA-regulated Device Product
    No
    Data Monitoring Committee
    No

    5. Study Description

    Brief Summary
    Descriptive analysis of N- homocysteinylated Huntingtin in 3 groups of human fibroblasts: presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin), symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) human control cell lines, unmutated Huntingtin
    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

    6. Conditions and Keywords

    Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
    Huntington Disease
    Keywords
    homocysteinemia

    7. Study Design

    Primary Purpose
    Basic Science
    Study Phase
    Not Applicable
    Interventional Study Model
    Factorial Assignment
    Masking
    None (Open Label)
    Allocation
    Non-Randomized
    Enrollment
    32 (Anticipated)

    8. Arms, Groups, and Interventions

    Arm Title
    presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)
    Arm Type
    Experimental
    Arm Description
    presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)
    Arm Title
    symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
    Arm Type
    Experimental
    Arm Description
    symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
    Arm Title
    human control cell lines, Unmutated Huntingtin
    Arm Type
    Experimental
    Arm Description
    human control cell lines, Unmutated Huntingtin
    Intervention Type
    Other
    Intervention Name(s)
    skin biopsy
    Intervention Description
    skin biopsy
    Primary Outcome Measure Information:
    Title
    Huntingtin homocysteinylated level
    Description
    measures the interaction between Homocysteine and Huntingtin in fibroblasts
    Time Frame
    Through study completion, an average of 2 years
    Secondary Outcome Measure Information:
    Title
    Blood levels of B9, B12
    Description
    Blood levels of B9, B12
    Time Frame
    Through study completion, an average of 2 years
    Title
    Blood levels of homocysteinemia
    Description
    Blood levels of homocysteinemia
    Time Frame
    Through study completion, an average of 2 years

    10. Eligibility

    Sex
    All
    Minimum Age & Unit of Time
    18 Years
    Accepts Healthy Volunteers
    No
    Eligibility Criteria
    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
    Central Contact Person:
    First Name & Middle Initial & Last Name or Official Title & Degree
    Mathilde Renaud, MD, PhD
    Phone
    03 83 15 36 22
    Email
    m.renaud2@chru-nancy.fr
    First Name & Middle Initial & Last Name or Official Title & Degree
    Nathalie Keil
    Phone
    03 83 15 52 79
    Email
    n.keil@chru-nancy.fr
    Overall Study Officials:
    First Name & Middle Initial & Last Name & Degree
    Mathilde Renaud
    Organizational Affiliation
    CHRU Nancy
    Official's Role
    Principal Investigator

    12. IPD Sharing Statement

    Plan to Share IPD
    No
    Citations:
    PubMed Identifier
    27534418
    Citation
    Geoffroy A, Kerek R, Pourie G, Helle D, Gueant JL, Daval JL, Bossenmeyer-Pourie C. Late Maternal Folate Supplementation Rescues from Methyl Donor Deficiency-Associated Brain Defects by Restoring Let-7 and miR-34 Pathways. Mol Neurobiol. 2017 Sep;54(7):5017-5033. doi: 10.1007/s12035-016-0035-8. Epub 2016 Aug 17.
    Results Reference
    result
    PubMed Identifier
    30734924
    Citation
    Bossenmeyer-Pourie C, Smith AD, Lehmann S, Deramecourt V, Sablonniere B, Camadro JM, Pourie G, Kerek R, Helle D, Umoret R, Gueant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Gueant JL. N-homocysteinylation of tau and MAP1 is increased in autopsy specimens of Alzheimer's disease and vascular dementia. J Pathol. 2019 Jul;248(3):291-303. doi: 10.1002/path.5254. Epub 2019 Mar 19.
    Results Reference
    result

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    N- Homocysteinylated Huntingtin in Huntington's Disease

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