Ignite Creation Date:
2025-12-24 @ 4:51 PM
Ignite Modification Date:
2025-12-28 @ 5:39 PM
Study NCT ID:
NCT04515550
Status:
COMPLETED
Last Update Posted:
2022-04-12
First Post:
2020-07-31
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Mitochondrial Biomarkers in Huntington's Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006816', 'term': 'Huntington Disease'}], 'ancestors': [{'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D002819', 'term': 'Chorea'}, {'id': 'D020820', 'term': 'Dyskinesias'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003072', 'term': 'Cognition Disorders'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D013129', 'term': 'Spinal Puncture'}], 'ancestors': [{'id': 'D001706', 'term': 'Biopsy'}, {'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D003943', 'term': 'Diagnostic Techniques, Neurological'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013812', 'term': 'Therapeutics'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'blood and csf specimens for mitochondrial metabolomics'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 27}, 'targetDuration': '18 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-04-04', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-04', 'completionDateStruct': {'date': '2022-02-28', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-04-09', 'studyFirstSubmitDate': '2020-07-31', 'studyFirstSubmitQcDate': '2020-08-14', 'lastUpdatePostDateStruct': {'date': '2022-04-12', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-08-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-02-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Change in Unified Huntington Disease Rating Scale (UHDRS) and UHDRS sub-sections', 'timeFrame': 'At baseline, 9 months, and 18 months', 'description': 'This is a questionnaire and neurological examination. Lower values are better than higher values.'}], 'secondaryOutcomes': [{'measure': 'Change in Montreal Cognitive Assessment (MoCA)', 'timeFrame': 'At baseline, 9 months, and 18 months', 'description': 'Zero to 30 point cognitive scale. Higher values are better than lower values.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Huntington disease', "Huntington's disease", 'biomarker'], 'conditions': ['Huntington Disease']}, 'descriptionModule': {'briefSummary': "The objective of this study is to discover a panel of mitochondrial metabolomics biomarkers for Huntington's disease.", 'detailedDescription': "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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'minimumAge': '20 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study population consists of people with HD and controls without HD', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Age 20 to 85\n* Montreal Cognitive Assessment score \\>10\n* HD subjects had onset of HD symptoms after the age of 20\n* 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\n* HD subjects with Diagnostic Confidence Level (DCL) of 4 (manifest) must have at least 36 CAG repeats on one HTT allele\n* Controls are asymptomatic without family history of HD or have \\<36 CAG repeats on both HTT alleles with family history of HD\n\nExclusion Criteria:\n\n* HD subjects who did not already have genetic testing are excluded from this study\n* Pregnancy or plans to become pregnant during the study\n* Investigational drugs within 3 months of screening visit\n* Alcohol or illicit drug abuse or dependence\n* Other genetic or neurological disorders\n* Other medical or psychiatric illness that in the investigator's judgement will prevent ability to tolerate or undergo study procedures\n* 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"}, 'identificationModule': {'nctId': 'NCT04515550', 'briefTitle': "Mitochondrial Biomarkers in Huntington's Disease", 'organization': {'class': 'OTHER', 'fullName': 'University Hospitals Cleveland Medical Center'}, 'officialTitle': "Longitudinal Biospecimen Collection for Mitochondrial Metabolomics in Huntington's Disease", 'orgStudyIdInfo': {'id': '20181082'}, 'secondaryIdInfos': [{'id': '1R21NS107897-01A1', 'link': 'https://reporter.nih.gov/quickSearch/1R21NS107897-01A1', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': "Huntington's disease (HD)", 'description': 'people with HD', 'interventionNames': ['Diagnostic Test: lumbar puncture']}, {'label': 'Controls without HD', 'description': 'people without HD', 'interventionNames': ['Diagnostic Test: lumbar puncture']}], 'interventions': [{'name': 'lumbar puncture', 'type': 'DIAGNOSTIC_TEST', 'description': 'Some participants will have an optional lumbar puncture', 'armGroupLabels': ['Controls without HD', "Huntington's disease (HD)"]}]}, 'contactsLocationsModule': {'locations': [{'zip': '44106', 'city': 'Cleveland', 'state': 'Ohio', 'country': 'United States', 'facility': 'University Hospitals Cleveland Medical Center', 'geoPoint': {'lat': 41.4995, 'lon': -81.69541}}], 'overallOfficials': [{'name': 'Xin Qi, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Case Western Reserve University'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospitals Cleveland Medical Center', 'class': 'OTHER'}, 'collaborators': [{'name': 'Case Western Reserve University', 'class': 'OTHER'}, {'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}, {'name': 'The Cleveland Clinic', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Assistant Professor, Neurology', 'investigatorFullName': 'Steven Gunzler, MD', 'investigatorAffiliation': 'University Hospitals Cleveland Medical Center'}}}}