Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Sponsor

Nationwide Children's Hospital (Other)

Overall Status

Completed

CT.gov ID

NCT01966757

Collaborator

Massachusetts General Hospital (Other)

Enrollment

Location

Duration (Months)

1.6

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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 or Disease	Intervention/Treatment	Phase
Neuronal Ceroid Lipofuscinosis Batten's Disease

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.

Study Design

Study Type:

Observational

Actual Enrollment :

57 participants

Time Perspective:

Cross-Sectional

Official Title:

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Study Start Date :

Jul 1, 2013

Actual Primary Completion Date :

Jul 1, 2016

Actual Study Completion Date :

Jul 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
Neuronal ceroid lipofuscinosis patients Caregiver of patient with NCL to provide information regarding patient's sleep habits

Outcome Measures

Primary Outcome Measures

Sleep disturbance [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 [one year]
Correlate the onset of sleep difficulties with history of epilepsy
Blindness [one year]
Correlate the onset of sleep difficulties with loss of vision

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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