Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Mitochondrial Biomarkers in Huntington's Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
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

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

Condition or disease Intervention/treatment
Huntington Disease Diagnostic Test: lumbar puncture

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.

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 65 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 18 Months
Official Title: Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease
Actual Study Start Date : April 4, 2019
Estimated Primary Completion Date : February 28, 2022
Estimated Study Completion Date : February 28, 2022

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Huntington's disease (HD)
people with HD
Diagnostic Test: lumbar puncture
Some participants will have an optional lumbar puncture

Controls without HD
people without HD
Diagnostic Test: lumbar puncture
Some participants will have an optional lumbar puncture




Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples Without DNA
blood and csf specimens for mitochondrial metabolomics


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   20 Years to 85 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The study population consists of people with HD and controls without HD
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04515550


Contacts
Layout table for location contacts
Contact: Elisar Khawam 216-844-2493 Elisar.Khawam@UHhospitals.org
Contact: Steven Gunzler, MD 216-844-8685

Locations
Layout table for location information
United States, Ohio
University Hospitals Cleveland Medical Center Recruiting
Cleveland, Ohio, United States, 44106
Contact: Steven Gunzler, MD         
Principal Investigator: Steven Gunzler, MD         
Sponsors and Collaborators
University Hospitals Cleveland Medical Center
Case Western Reserve University
National Institute of Neurological Disorders and Stroke (NINDS)
The Cleveland Clinic
Investigators
Layout table for investigator information
Principal Investigator: Xin Qi, PhD Case Western Reserve University
Layout table for additonal information
Responsible Party: Steven Gunzler, MD, Assistant Professor, Neurology, University Hospitals Cleveland Medical Center
ClinicalTrials.gov Identifier: NCT04515550    
Other Study ID Numbers: 20181082
1R21NS107897-01A1 ( U.S. NIH Grant/Contract )
First Posted: August 17, 2020    Key Record Dates
Last Update Posted: March 22, 2021
Last Verified: March 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Steven Gunzler, MD, University Hospitals Cleveland Medical Center:
Huntington disease
Huntington's disease
biomarker
Additional relevant MeSH terms:
Layout table for MeSH terms
Huntington Disease
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Dementia
Chorea
Dyskinesias
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cognition Disorders
Neurocognitive Disorders
Mental Disorders