Mitochondrial Biomarkers in Huntington's Disease

Huntington Disease Clinical Trial

Official title:

Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04515550
• Other study ID #: 20181082
• Secondary ID: 1R21NS107897-01A
• Status: Completed
• Start date: April 4, 2019
• Est. completion date: February 28, 2022

Study information

• Verified date: April 2022
• Source: University Hospitals Cleveland Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.

Description:

This investigator-initiated, single-site longitudinal study seeks to assess the utility of mitochondrial metabolomics -- panels of small molecules that affect mitochondrial function -- to diagnose pre-symptomatic, pre-manifest, and symptomatic Huntington's disease and serve as biomarkers for HD severity and progression. It also seeks to demonstrate that this novel biomarker in the blood has comparable value to the same analysis in spinal fluid. This research study involves 3-4 visits over 18 months. Forty volunteers with HD and 25 volunteers without HD will be included. Volunteers who have HD will have a physical examination and blood draw at each study visit. Some participants will also volunteer for optional lumbar puncture.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 27
• Est. completion date: February 28, 2022
• Est. primary completion date: February 28, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 20 Years to 85 Years

Eligibility

Inclusion Criteria:

• Age 20 to 85

• Montreal Cognitive Assessment score >10

• HD subjects had onset of HD symptoms after the age of 20

• HD subjects with Diagnostic Confidence Level (DCL) of 0-3 (pre-symptomatic or pre-manifest) must have at least 40 CAG repeats on one HTT allele

• HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele

• Controls are asymptomatic without family history of HD or have <36 CAG repeats on both HTT alleles with family history of HD

Exclusion Criteria:

• HD subjects who did not already have genetic testing are excluded from this study

• Pregnancy or plans to become pregnant during the study

• Investigational drugs within 3 months of screening visit

• Alcohol or illicit drug abuse or dependence

• Other genetic or neurological disorders

• Other medical or psychiatric illness that in the investigator's judgement will prevent ability to tolerate or undergo study procedures

• For those volunteering for lumbar puncture (LP), bleeding disorders or excessive bleeding, anticoagulation, aspirin if unable to safely stop taking it at least 7 days prior to LP, other antiplatelet medications, inability to tolerate LP, allergy to local anesthetic or chlorhexidine, major lumbar spine deformity, low platelets or abnormal coagulation factors PT/APTT

Related Conditions & MeSH terms

• Huntington Disease

Intervention

Diagnostic Test:
• lumbar puncture
Some participants will have an optional lumbar puncture

Locations

Country	Name	City	State
United States	University Hospitals Cleveland Medical Center	Cleveland	Ohio

Sponsors (4)

Lead Sponsor	Collaborator
University Hospitals Cleveland Medical Center	Case Western Reserve University, National Institute of Neurological Disorders and Stroke (NINDS), The Cleveland Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections	This is a questionnaire and neurological examination. Lower values are better than higher values.	At baseline, 9 months, and 18 months
Secondary	Change in Montreal Cognitive Assessment (MoCA)	Zero to 30 point cognitive scale. Higher values are better than lower values.	At baseline, 9 months, and 18 months