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Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

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

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 ]
    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 ]
    Correlate the onset of sleep difficulties with history of epilepsy

  • Blindness [ Time Frame: one year ]
    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)
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.

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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

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
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Please refer to this study by its identifier: NCT01966757

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

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

Keywords provided by Nationwide Children's Hospital:
Neuronal Ceroid Lipofuscinosis
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
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases processed this record on May 24, 2017