Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

NCT01966757 | Completed

• 1 other identifier: IRB13-00376
• Study Type: observational
• Target: 57
• Locations: 1 country
• Sites: 1

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.

Conditions

Neuronal Ceroid Lipofuscinosis; Batten's Disease

Keywords

Neuronal Ceroid Lipofuscinosis; NCL; Batten's Disease; Children's Sleep Habits Questionnaire; Restless Leg Syndrome

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (2)

• Epilepsy onset

  one year

• Blindness

  one year

Study Arms (1)

Neuronal ceroid lipofuscinosis patients

Caregiver of patient with NCL to provide information regarding patient's sleep habits

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing

You may qualify if:

• 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

You may not qualify if:

• patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires

Sponsors & Collaborators

• Nationwide Children's Hospital: lead
• Massachusetts General Hospital: collaborator

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Related Publications (2)

• 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.

  PMID: 11145319 BACKGROUND

• 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.

  PMID: 27105763 RESULT

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses; Restless Legs Syndrome

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Parasomnias; Mental Disorders

Study Officials

• Lenora M Lehwald, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Clinical Pediatrics

Study Record Dates

• First Submitted: September 25, 2013
• First Posted: October 22, 2013
• Study Start: July 1, 2013
• Primary Completion: July 1, 2016
• Study Completion: July 1, 2016
• Last Updated: July 26, 2016

Record last verified: 2016-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)