NCT05225051

Brief Summary

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

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

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
32

participants targeted

Target at P25-P50 for not_applicable

Timeline
Completed

Started Apr 2022

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

January 11, 2022

Completed
24 days until next milestone

First Posted

Study publicly available on registry

February 4, 2022

Completed
2 months until next milestone

Study Start

First participant enrolled

April 1, 2022

Completed
1.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 1, 2023

Completed
Last Updated

March 9, 2022

Status Verified

March 1, 2022

Enrollment Period

1.1 years

First QC Date

January 11, 2022

Last Update Submit

March 8, 2022

Conditions

Huntington Disease

Keywords

homocysteinemia

Outcome Measures

Primary Outcomes (1)

  • Huntingtin homocysteinylated level

    measures the interaction between Homocysteine and Huntingtin in fibroblasts

    Through study completion, an average of 2 years

Secondary Outcomes (2)

  • Blood levels of B9, B12

    Through study completion, an average of 2 years

  • Blood levels of homocysteinemia

    Through study completion, an average of 2 years

Study Arms (3)

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

EXPERIMENTAL

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

Other: skin biopsy

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

EXPERIMENTAL

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

Other: skin biopsy

human control cell lines, Unmutated Huntingtin

EXPERIMENTAL

human control cell lines, Unmutated Huntingtin

Other: skin biopsy

Interventions

skin biopsyOTHER

skin biopsy

human control cell lines, Unmutated Huntingtinpresymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin)symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Related Publications (2)

  • 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.

    PMID: 27534418RESULT

  • 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.

    PMID: 30734924RESULT

MeSH Terms

Conditions

Huntington DiseaseHomocysteinemia

Condition Hierarchy (Ancestors)

Basal Ganglia DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesDementiaChoreaDyskinesiasMovement DisordersHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCognition DisordersNeurocognitive DisordersMental Disorders

Study Officials

  • Mathilde Renaud

    CHRU Nancy

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Mathilde Renaud, MD, PhD

CONTACT

03 83 15 36 22m.renaud2@chru-nancy.fr

Nathalie Keil

CONTACT

03 83 15 52 79n.keil@chru-nancy.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
FACTORIAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

January 11, 2022

First Posted

February 4, 2022

Study Start

April 1, 2022

Primary Completion

May 1, 2023

Study Completion

May 1, 2023

Last Updated

March 9, 2022

Record last verified: 2022-03

Data Sharing

IPD Sharing
Will not share