Mitochondrial Biomarkers in Huntington's Disease

University Hospitals (UH)

Status

Completed

Conditions

Huntington Disease

Treatments

Diagnostic Test: lumbar puncture

Study type

Observational

Funder types

Other

NIH

Identifiers

NCT04515550

1R21NS107897-01A1 (U.S. NIH Grant/Contract)

20181082

Details and patient eligibility

About

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

Full 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.

Enrollment

27 patients

Sex

All

Ages

20 to 85 years old

Volunteers

Accepts Healthy Volunteers

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