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Mitochondrial Biomarkers in Huntington's Disease

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ClinicalTrials.gov Identifier: NCT04515550
Recruitment Status : Recruiting
First Posted : August 17, 2020
Last Update Posted : March 22, 2021
Sponsor:
Collaborators:
Case Western Reserve University
National Institute of Neurological Disorders and Stroke (NINDS)
The Cleveland Clinic
Information provided by (Responsible Party):
Steven Gunzler, MD, University Hospitals Cleveland Medical Center

Tracking Information
First Submitted Date July 31, 2020
First Posted Date August 17, 2020
Last Update Posted Date March 22, 2021
Actual Study Start Date April 4, 2019
Estimated Primary Completion Date February 28, 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 14, 2020)
Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections [ Time Frame: At baseline, 9 months, and 18 months ]
This is a questionnaire and neurological examination. Lower values are better than higher values.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: August 14, 2020)
Change in Montreal Cognitive Assessment (MoCA) [ Time Frame: At baseline, 9 months, and 18 months ]
Zero to 30 point cognitive scale. Higher values are better than lower values.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Mitochondrial Biomarkers in Huntington's Disease
Official Title Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease
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 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.
Study Type Observational [Patient Registry]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 18 Months
Biospecimen Retention:   Samples Without DNA
Description:
blood and csf specimens for mitochondrial metabolomics
Sampling Method Non-Probability Sample
Study Population The study population consists of people with HD and controls without HD
Condition Huntington Disease
Intervention Diagnostic Test: lumbar puncture
Some participants will have an optional lumbar puncture
Study Groups/Cohorts
  • Huntington's disease (HD)
    people with HD
    Intervention: Diagnostic Test: lumbar puncture
  • Controls without HD
    people without HD
    Intervention: Diagnostic Test: lumbar puncture
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 14, 2020)
65
Original Estimated Enrollment Same as current
Estimated Study Completion Date February 28, 2022
Estimated Primary Completion Date February 28, 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 20 Years to 85 Years   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Elisar Khawam 216-844-2493 Elisar.Khawam@UHhospitals.org
Contact: Steven Gunzler, MD 216-844-8685
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04515550
Other Study ID Numbers 20181082
1R21NS107897-01A1 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Steven Gunzler, MD, University Hospitals Cleveland Medical Center
Study Sponsor University Hospitals Cleveland Medical Center
Collaborators
  • Case Western Reserve University
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • The Cleveland Clinic
Investigators
Principal Investigator: Xin Qi, PhD Case Western Reserve University
PRS Account University Hospitals Cleveland Medical Center
Verification Date March 2021