Ignite Creation Date:
2025-12-24 @ 6:35 PM
Ignite Modification Date:
2026-01-07 @ 6:47 PM
Study NCT ID:
NCT01966757
Status:
COMPLETED
Last Update Posted:
2016-07-26
First Post:
2013-09-25
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009472', 'term': 'Neuronal Ceroid-Lipofuscinoses'}, {'id': 'D012148', 'term': 'Restless Legs Syndrome'}], 'ancestors': [{'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'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': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020919', 'term': 'Sleep Disorders, Intrinsic'}, {'id': 'D020920', 'term': 'Dyssomnias'}, {'id': 'D012893', 'term': 'Sleep Wake Disorders'}, {'id': 'D020447', 'term': 'Parasomnias'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 57}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-07'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-07', 'completionDateStruct': {'date': '2016-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2016-07-25', 'studyFirstSubmitDate': '2013-09-25', 'studyFirstSubmitQcDate': '2013-10-17', 'lastUpdatePostDateStruct': {'date': '2016-07-26', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-10-22', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-07', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Sleep disturbance', 'timeFrame': 'one year', 'description': "Identify the presence of sleep disturbance in children with Neuronal Ceroid Lipofuscinosis using the Children's Sleep Habits Questionnaire (CSHQ) and using the 8 subscales further identify specific areas of difficulty"}], 'secondaryOutcomes': [{'measure': 'Epilepsy onset', 'timeFrame': 'one year', 'description': 'Correlate the onset of sleep difficulties with history of epilepsy'}, {'measure': 'Blindness', 'timeFrame': 'one year', 'description': 'Correlate the onset of sleep difficulties with loss of vision'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Neuronal Ceroid Lipofuscinosis', 'NCL', "Batten's Disease", "Children's Sleep Habits Questionnaire", 'Restless Leg Syndrome'], 'conditions': ['Neuronal Ceroid Lipofuscinosis', "Batten's Disease"]}, 'referencesModule': {'references': [{'pmid': '11145319', 'type': 'BACKGROUND', 'citation': "Owens JA, Spirito A, McGuinn M. The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children. Sleep. 2000 Dec 15;23(8):1043-51."}, {'pmid': '27105763', 'type': 'RESULT', 'citation': 'Lehwald LM, Pappa R, Steward S, de Los Reyes E. Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities. Pediatr Neurol. 2016 Jun;59:30-5. doi: 10.1016/j.pediatrneurol.2016.02.009. Epub 2016 Mar 3.'}]}, 'descriptionModule': {'briefSummary': "Neuronal Ceroid Lipofuscinosis (NCL) also known at Batten's disease is the most common neurodegenerative disorder in children. Families often report the patient has a sleep disturbance. This is a questionnaire to be completed by the family to better understand the sleep pattern and sleep difficulties experienced by individuals who have been diagnosed with NCL.", 'detailedDescription': "Neuronal Ceroid Lipofuscinosis (NCL) is the most common neurodegenerative disorder in children characterized by seizures, blindness, ataxia, myoclonia and loss of cognition. There are 12 clinical types identified with a concurrent genetic abnormality. The diagnosis is determined by gene testing and skin biopsy findings although genetic testing has supplanted skin biopsy in most cases. Numberous studies have confirmed the presence of sleep disorder in patients with NCL but these cases were documented over a decade ago. The investigators would like to study the prevalence of sleep disorders in this group of patients. The investigators will distribute a Children's Sleep Habits Questionnaire (CSHQ) to the family of the patient to complete and provide a information regarding the patient's sleep. In addition to the validated sleep questionnaire a separate demographic questionnaire will be given to the family to identify the type of NCL, presence or absence of blindness, presence or absence of seizures, interventions tried to treat sleep disturbance. The last questions of the study are asking for the presence or absence of Restless Leg Syndrome symptoms."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis (NCL) by DNA or electron microscopy studies Family member completing study must be able to read and understand the Children's Sleep Habits Questionnaire (CSHQ) and Demographic questions\n\nExclusion Criteria:\n\n* patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires"}, 'identificationModule': {'nctId': 'NCT01966757', 'briefTitle': 'Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities', 'organization': {'class': 'OTHER', 'fullName': "Nationwide Children's Hospital"}, 'officialTitle': 'Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities', 'orgStudyIdInfo': {'id': 'IRB13-00376'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Neuronal ceroid lipofuscinosis patients', 'description': "Caregiver of patient with NCL to provide information regarding patient's sleep habits"}]}, 'contactsLocationsModule': {'locations': [{'zip': '43205', 'city': 'Columbus', 'state': 'Ohio', 'country': 'United States', 'facility': "Nationwide Children's Hospital", 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}], 'overallOfficials': [{'name': 'Lenora M Lehwald, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Nationwide Children's Hospital"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Nationwide Children's Hospital", 'class': 'OTHER'}, 'collaborators': [{'name': 'Massachusetts General Hospital', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Assistant Professor of Clinical Pediatrics', 'investigatorFullName': 'Lenora Lehwald', 'investigatorAffiliation': "Nationwide Children's Hospital"}}}}