Mitochondrial Biomarkers in Huntington's Disease

NCT04515550 | Completed

• 2 other identifiers: 201810821R21NS107897-01A1
• Study Type: observational
• Target: 27
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Huntington Disease

Keywords

Huntington disease; Huntington's disease; biomarker

Outcome Measures

Primary Outcomes (1)

• Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections

  This is a questionnaire and neurological examination. Lower values are better than higher values.

  At baseline, 9 months, and 18 months

Secondary Outcomes (1)

• Change in Montreal Cognitive Assessment (MoCA)

  At baseline, 9 months, and 18 months

Study Arms (2)

Huntington's disease (HD)

people with HD

Diagnostic Test: lumbar puncture

Controls without HD

people without HD

Diagnostic Test: lumbar puncture

Interventions

lumbar puncture DIAGNOSTIC_TEST

Some participants will have an optional lumbar puncture

Controls without HD; Huntington's disease (HD)

Eligibility Criteria

• Age: 20 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of people with HD and controls without HD

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospitals Cleveland Medical Center: lead
• Case Western Reserve University: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• The Cleveland Clinic: collaborator

Study Sites (1)

University Hospitals Cleveland Medical Center

Cleveland, Ohio, 44106, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

blood and csf specimens for mitochondrial metabolomics

MeSH Terms

Conditions

Huntington Disease

Interventions

Spinal Puncture

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cognition Disorders; Neurocognitive Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Biopsy; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Xin Qi, PhD

  Case Western Reserve University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 18 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor, Neurology

Study Record Dates

• First Submitted: July 31, 2020
• First Posted: August 17, 2020
• Study Start: April 4, 2019
• Primary Completion: February 28, 2022
• Study Completion: February 28, 2022
• Last Updated: April 12, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)