Ignite Creation Date:
2025-12-25 @ 12:43 AM
Ignite Modification Date:
2025-12-25 @ 10:55 PM
Study NCT ID:
NCT05588167
Status:
RECRUITING
Last Update Posted:
2025-12-24
First Post:
2022-10-19
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D052556', 'term': 'Niemann-Pick Disease, Type C'}], 'ancestors': [{'id': 'D009542', 'term': 'Niemann-Pick Diseases'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D015616', 'term': 'Histiocytosis, Non-Langerhans-Cell'}, {'id': 'D015614', 'term': 'Histiocytosis'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-11-28', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03-19', 'completionDateStruct': {'date': '2026-09-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-23', 'studyFirstSubmitDate': '2022-10-19', 'studyFirstSubmitQcDate': '2022-10-19', 'lastUpdatePostDateStruct': {'date': '2025-12-24', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-10-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-09-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Clinical data, genomic markers', 'timeFrame': '2 years', 'description': 'Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.'}, {'measure': 'Whole genome', 'timeFrame': '2 years', 'description': 'Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Genetic', 'Clinical', 'DNA', 'Medical', 'History', 'Natural History'], 'conditions': ['Niemann-Pick Disease, Type C']}, 'referencesModule': {'seeAlsoLinks': [{'url': 'https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_001018-CH.html', 'label': 'NIH Clinical Center Detailed Web Page'}]}, 'descriptionModule': {'briefSummary': 'Background:\n\nNiemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body.\n\nObjective:\n\nThis study will create the first and largest database about NPC.\n\nEligibility:\n\nPeople of any age who have NPC.\n\nDesign:\n\nParticipants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA.\n\nThe participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results.\n\nThe study team will communicate with participants. They will discuss the study and answer any questions.\n\nParticipants will receive up to $190.', 'detailedDescription': 'Study Description:\n\nThe primary objective of this protocol is to investigate the phenotypic heterogeneity of NPC by using clinical and genomic data, and to establish a comprehensive database to facilitate future investigations.\n\nObjectives:\n\n1. Identify correlations between NPC clinical phenotypic findings and genomic markers to facilitate the understanding of the heterogeneity of this disease.\n2. Identify genetic contributions to NPC disease progression that can be utilized as potential therapeutic targets.\n3. Establish the first and largest database of genomic and phenotypic information for NPC to benefit the NPC research and patient community.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Months', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals with Niemann-Pick Disease, type C', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA;\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Male or female, any age, demographic or ethnic background will be eligible for this study\n4. Diagnosis of NPC will be based on clinical, biochemical or molecular testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Unwilling to provide consent\n2. Unable to provide biospecimen to obtain DNA\n3. Unable to provide medical records or clinical data'}, 'identificationModule': {'nctId': 'NCT05588167', 'briefTitle': 'Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C', 'orgStudyIdInfo': {'id': '10001018'}, 'secondaryIdInfos': [{'id': '001018-CH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Affected', 'description': 'Patients with Niemann-Pick Disease, type C'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)', 'role': 'CONTACT', 'email': 'ccopr@nih.gov', 'phone': '800-411-1222', 'phoneExt': 'TTY dial 711'}], 'facility': 'National Institutes of Health Clinical Center', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}], 'centralContacts': [{'name': 'Desiree A Labor, C.R.N.P.', 'role': 'CONTACT', 'email': 'desiree.labor@nih.gov', 'phone': '(240) 678-7868'}, {'name': 'Forbes D Porter, M.D.', 'role': 'CONTACT', 'email': 'fdporter@mail.nih.gov', 'phone': '(301) 435-4432'}], 'overallOfficials': [{'name': 'Forbes D Porter, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}