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