Mitochondrial Biomarkers in Huntington's Disease

Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease


Lead Sponsor: University Hospitals Cleveland Medical Center

Collaborator: Case Western Reserve University
National Institute of Neurological Disorders and Stroke (NINDS)
The Cleveland Clinic

Source University Hospitals Cleveland Medical Center
Brief Summary

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

Detailed 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 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 lumbar puncture.

Overall Status Recruiting
Start Date April 4, 2019
Completion Date February 28, 2021
Primary Completion Date February 28, 2021
Study Type Observational [Patient Registry]
Primary Outcome
Measure Time Frame
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections At baseline, 9 months, and 18 months
Secondary Outcome
Measure Time Frame
Change in Montreal Cognitive Assessment (MoCA) At baseline, 9 months, and 18 months
Enrollment 65

Intervention Type: Diagnostic Test

Intervention Name: lumbar puncture

Description: Some participants will have an optional lumbar puncture


Sampling Method: Non-Probability Sample


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 3 (late 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

Gender: All

Minimum Age: 20 Years

Maximum Age: 85 Years

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Xin Qi, PhD Principal Investigator Case Western Reserve University
Overall Contact

Last Name: David Korosec, RN

Phone: 216-844-1800

Email: [email protected]

Facility: Status: Contact: Investigator: University Hospitals Cleveland Medical Center Steven Gunzler, MD Steven Gunzler, MD Principal Investigator
Location Countries

United States

Verification Date

August 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: University Hospitals Cleveland Medical Center

Investigator Full Name: Steven Gunzler, MD

Investigator Title: Assistant Professor, Neurology

Has Expanded Access No
Condition Browse
Arm Group

Label: Huntington's disease (HD)

Description: people with HD

Label: Controls without HD

Description: people without HD

Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective