Huntington DiseaseHO-HDNCT05225051
N- Homocysteinylated Huntingtin in Huntington's Disease
A study testing skin biopsy in people with Huntington Disease, run by Central Hospital, Nancy, France.
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 Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Huntington Disease
- What is being tested?
- skin biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 32 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2022to 1 May 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
No sites are listed yet.
About this study
Official title: N-homocysteinylated Huntingtin in Huntington's Disease
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
Read the 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
- Conditions
- Huntington Disease
- Being tested
- skin biopsy
- Keywords
- homocysteinemia
- Medical subject headings
- Huntington Disease, Homocysteinemia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
skin biopsyOther
skin biopsy
| Study group | Role | What they receive |
|---|---|---|
| presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) | Experimental | presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) Receives: Other: skin biopsy |
| symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) | Experimental | symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) Receives: Other: skin biopsy |
| human control cell lines, Unmutated Huntingtin | Experimental | human control cell lines, Unmutated Huntingtin Receives: Other: skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Huntingtin homocysteinylated level
measures the interaction between Homocysteine and Huntingtin in fibroblasts
Measured: Through study completion, an average of 2 years
Secondary outcomes (2)
Blood levels of B9, B12
Blood levels of B9, B12
Measured: Through study completion, an average of 2 years
Blood levels of homocysteinemia
Blood levels of homocysteinemia
Measured: Through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Feb 2022
- Study start1 Apr 2022 (estimated)
- Primary completion1 May 2023 (estimated)
- Study completion1 May 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- More trials run by Central Hospital, Nancy, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Masking
- None (open label)
- Enrolment
- 32 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Central Hospital, Nancy, France
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, RENAUD Mathilde, Central Hospital, Nancy, France
- Investigators
- Mathilde Renaud, Principal investigator, CHRU Nancy
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05225051
- Sponsor's protocol ID
- 2021-A00407-34
- Acronym
- HO-HD
- Status last verified
- Mar 2022
- First submitted
- 11 Jan 2022
- Last updated
- 9 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 27534418Bossenmeyer-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.
PubMed 30734924
Study at a glance
From the registry record, last updated by the sponsor on 9 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- N-homocysteinylated Huntingtin in Huntington's Disease
- ClinicalTrials.gov ID
- NCT05225051
- Acronym / sponsor ID
- HO-HD / 2021-A00407-34
- Conditions
- Huntington Disease
- Keywords
- homocysteinemia
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 32 participants (estimated)
- Lead sponsor
- Central Hospital, Nancy, FranceUniversity, hospital or other
- Study start
- 1 Apr 2022 (estimated)
- Primary completion
- 1 May 2023 (estimated)
- Study completion
- 1 May 2023 (estimated)
- First posted
- 4 Feb 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) | Experimental | Other: skin biopsypresymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin) |
| symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) | Experimental | Other: skin biopsysymptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) |
| human control cell lines, Unmutated Huntingtin | Experimental | Other: skin biopsyhuman control cell lines, Unmutated Huntingtin |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| skin biopsyskin biopsy | Other | human control cell lines, Unmutated Huntingtin, presymptomatic HD individuals with UHDRS motor ≤ 5 (Mutated Huntingtin), symptomatic HD individuals with motor UHDRS > 5 (Mutated Huntingtin) |
Primary outcome
Huntingtin homocysteinylated level
Time frame: Through study completion, an average of 2 years
measures the interaction between Homocysteine and Huntingtin in fibroblasts
2 secondary outcomes
Blood levels of B9, B12
Time frame: Through study completion, an average of 2 years
Blood levels of homocysteinemia
Time frame: Through study completion, an average of 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Mar 2022.
- Results publication: PubMed 27534418Geoffroy 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 publication: PubMed 30734924Bossenmeyer-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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mathilde Renaud principal investigator
CHRU Nancy
Questions about this trial
What is this clinical trial studying?
A study testing skin biopsy in people with Huntington Disease, run by Central Hospital, Nancy, France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 9 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Mathilde Renaud, MD, PhD (03 83 15 36 22, m.renaud2@chru-nancy.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Huntingtin homocysteinylated level (time frame: Through study completion, an average of 2 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05225051, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Mar 2022.