N- Homocysteinylated Huntingtin in Huntington's Disease

Huntington Disease Clinical Trial

— HO-HD  

Official title:

N-homocysteinylated Huntingtin in Huntington's Disease

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05225051
• Other study ID #: 2021-A00407-34
• Status: Not yet recruiting
• Phase: N/A
• Start date: April 1, 2022
• Est. completion date: May 1, 2023

Study information

• Verified date: March 2022
• Source: Central Hospital, Nancy, France
• Contact: Mathilde Renaud, MD, PhD
• Phone: 03 83 15 36 22
• Email: m.renaud2[@]chru-nancy.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 32
• Est. completion date: May 1, 2023
• Est. primary completion date: May 1, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Huntington Disease

Intervention

Other:
• skin biopsy
skin biopsy

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Central Hospital, Nancy, France

References & Publications (2)

Bossenmeyer-Pourié C, Smith AD, Lehmann S, Deramecourt V, Sablonnière B, Camadro JM, Pourié G, Kerek R, Helle D, Umoret R, Guéant-Rodriguez RM, Rigau V, Gabelle A, Sequeira JM, Quadros EV, Daval JL, Guéant JL. N-homocysteinylation of tau and MAP1 is incre — View Citation

Geoffroy A, Kerek R, Pourié G, Helle D, Guéant JL, Daval JL, Bossenmeyer-Pourié 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):501 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Huntingtin homocysteinylated level	measures the interaction between Homocysteine and Huntingtin in fibroblasts	Through study completion, an average of 2 years
Secondary	Blood levels of B9, B12	Blood levels of B9, B12	Through study completion, an average of 2 years
Secondary	Blood levels of homocysteinemia	Blood levels of homocysteinemia	Through study completion, an average of 2 years