Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Neuronal Ceroid Lipofuscinosis Clinical Trial

Official title:

Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01966757
• Other study ID #: IRB13-00376
• Status: Completed
• Phase: N/A
• First received: September 25, 2013
• Last updated: July 25, 2016
• Start date: July 2013
• Est. completion date: July 2016

Study information

• Verified date: July 2016
• Source: Nationwide Children's Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 57
• Est. completion date: July 2016
• Est. primary completion date: July 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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

Study Design

Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Batten's Disease
• Neuronal Ceroid Lipofuscinosis
• Neuronal Ceroid-Lipofuscinoses

Locations

Country	Name	City	State
United States	Nationwide Children's Hospital	Columbus	Ohio

Sponsors (2)

Lead Sponsor	Collaborator
Nationwide Children's Hospital	Massachusetts General Hospital

Country where clinical trial is conducted

United States, 

References & Publications (2)

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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Sleep disturbance	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	one year	No
Secondary	Epilepsy onset	Correlate the onset of sleep difficulties with history of epilepsy	one year	No
Secondary	Blindness	Correlate the onset of sleep difficulties with loss of vision	one year	No