Clinical trial NCT01966757: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Official title: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuronal Ceroid Lipofuscinosis
Batten's Disease
Keywords: Neuronal Ceroid Lipofuscinosis
NCL
Batten's Disease
Children's Sleep Habits Questionnaire
Restless Leg Syndrome
Lead sponsor: Nationwide Children's Hospital
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
First posted: 2013-10-22
Enrollment: 57
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing

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.

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 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

Primary outcomes:
measure: Sleep disturbance
timeFrame: one year
Secondary outcomes:
measure: Epilepsy onset
timeFrame: one year
measure: Blindness
timeFrame: one year
Other outcomes:
Locations:
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
Study officials:
affiliation: Nationwide Children's Hospital
name: Lenora M Lehwald, MD
role: PRINCIPAL_INVESTIGATOR
References:
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.
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.