N- Homocysteinylated Huntingtin in Huntington's Disease
NCT ID: NCT05225051
Last Updated: 2022-03-09
Study Results
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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UNKNOWN
NA
32 participants
INTERVENTIONAL
2022-04-01
2023-05-01
Brief Summary
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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
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Detailed Description
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Controls: Eight standardized cell lines from human fibroblasts
Conditions
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Study Design
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NON_RANDOMIZED
FACTORIAL
BASIC_SCIENCE
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)
skin biopsy
skin biopsy
symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin)
symptomatic HD individuals with motor UHDRS \> 5 (Mutated Huntingtin)
skin biopsy
skin biopsy
human control cell lines, Unmutated Huntingtin
human control cell lines, Unmutated Huntingtin
skin biopsy
skin biopsy
Interventions
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skin biopsy
skin biopsy
Eligibility Criteria
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Inclusion Criteria
* Molecularly confirmed Huntington's disease
* Patient 18 years of age and older
* Person affiliated to or benefiting from a social security assurance
Exclusion Criteria
* Pregnant woman, parturient or nursing mother
* Women of childbearing potential who do not have effective contraception
* Intellectual deterioration preventing the understanding of research
18 Years
ALL
No
Sponsors
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Central Hospital, Nancy, France
OTHER
Responsible Party
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RENAUD Mathilde
Principal Investigator
Principal Investigators
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Mathilde Renaud
Role: PRINCIPAL_INVESTIGATOR
CHRU Nancy
Central Contacts
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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.
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.
Other Identifiers
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2021-A00407-34
Identifier Type: -
Identifier Source: org_study_id
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