N- Homocysteinylated Huntingtin in Huntington's Disease

NCT ID: NCT05225051

Last Updated: 2022-03-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

32 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-04-01

Study Completion Date

2023-05-01

Brief Summary

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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

Detailed Description

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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

Conditions

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Huntington Disease

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

FACTORIAL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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

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

Group Type EXPERIMENTAL

skin biopsy

Intervention Type OTHER

skin biopsy

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

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

Group Type EXPERIMENTAL

skin biopsy

Intervention Type OTHER

skin biopsy

human control cell lines, Unmutated Huntingtin

human control cell lines, Unmutated Huntingtin

Group Type EXPERIMENTAL

skin biopsy

Intervention Type OTHER

skin biopsy

Interventions

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skin biopsy

skin biopsy

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Central Hospital, Nancy, France

OTHER

Sponsor Role lead

Responsible Party

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RENAUD Mathilde

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Mathilde Renaud

Role: PRINCIPAL_INVESTIGATOR

CHRU Nancy

Central Contacts

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Mathilde Renaud, MD, PhD

Role: CONTACT

03 83 15 36 22

Nathalie Keil

Role: CONTACT

03 83 15 52 79

References

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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.

Reference Type RESULT
PMID: 27534418 (View on PubMed)

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.

Reference Type RESULT
PMID: 30734924 (View on PubMed)

Other Identifiers

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2021-A00407-34

Identifier Type: -

Identifier Source: org_study_id

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