Trial record 1 of 21 for:    "congenital neuronal ceroid lipofuscinosis" OR "Neuronal Ceroid-Lipofuscinoses"
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Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

This study has been completed.
Sponsor:
Collaborator:
Massachusetts General Hospital
Information provided by (Responsible Party):
Lenora Lehwald, Nationwide Children's Hospital
ClinicalTrials.gov Identifier:
NCT01966757
First received: September 25, 2013
Last updated: July 25, 2016
Last verified: July 2016
  Purpose
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.

Condition
Neuronal Ceroid Lipofuscinosis
Batten's Disease

Study Type: Observational
Study Design: Time Perspective: Cross-Sectional
Official Title: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Resource links provided by NLM:


Further study details as provided by Nationwide Children's Hospital:

Primary Outcome Measures:
  • Sleep disturbance [ Time Frame: one year ] [ Designated as safety issue: No ]
    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


Secondary Outcome Measures:
  • Epilepsy onset [ Time Frame: one year ] [ Designated as safety issue: No ]
    Correlate the onset of sleep difficulties with history of epilepsy

  • Blindness [ Time Frame: one year ] [ Designated as safety issue: No ]
    Correlate the onset of sleep difficulties with loss of vision


Enrollment: 57
Study Start Date: July 2013
Study Completion Date: July 2016
Primary Completion Date: July 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
Neuronal ceroid lipofuscinosis patients
Caregiver of patient with NCL to provide information regarding patient's sleep habits

Detailed Description:
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.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01966757

Locations
United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Nationwide Children's Hospital
Massachusetts General Hospital
Investigators
Principal Investigator: Lenora M Lehwald, MD Nationwide Children's Hospital
  More Information

Publications:
Responsible Party: Lenora Lehwald, Assistant Professor of Clinical Pediatrics, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT01966757     History of Changes
Other Study ID Numbers: IRB13-00376 
Study First Received: September 25, 2013
Last Updated: July 25, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Nationwide Children's Hospital:
Neuronal Ceroid Lipofuscinosis
NCL
Batten's Disease
Children's Sleep Habits Questionnaire
Restless Leg Syndrome

Additional relevant MeSH terms:
Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on July 26, 2016