Neuronal Ceroid LipofuscinosisNCT01966757
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
An observational study of Neuronal Ceroid Lipofuscinosis and Batten's Disease, run by Nationwide Children's Hospital at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neuronal Ceroid Lipofuscinosis, Batten's Disease
- How many people
- 57 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2013to Jul 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing
Who may be able to join
- 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
Who cannot join
- patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
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.
Read the 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.
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten's Disease
- Keywords
- Neuronal Ceroid Lipofuscinosis, NCL, Batten's Disease, Children's Sleep Habits Questionnaire, Restless Leg Syndrome
- Medical subject headings
- Neuronal Ceroid-Lipofuscinoses, Restless Legs Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Neuronal ceroid lipofuscinosis patients | Caregiver of patient with NCL to provide information regarding patient's sleep habits |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: one year
Secondary outcomes (2)
Epilepsy onset
Correlate the onset of sleep difficulties with history of epilepsy
Measured: one year
Blindness
Correlate the onset of sleep difficulties with loss of vision
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Oct 2013 (estimated)
- Study startJul 2013
- Primary completionJul 2016
- Study completionJul 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Neuronal Ceroid LipofuscinosisStudies of the same condition, open and under way.
- More trials run by Nationwide Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Cross-sectional
- Enrolment
- 57 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Massachusetts General Hospital
- Responsible party
- Principal investigator, Lenora Lehwald, Nationwide Children's Hospital
- Investigators
- Lenora M Lehwald, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01966757
- Sponsor's protocol ID
- IRB13-00376
- Status last verified
- Jul 2016
- First submitted
- 25 Sep 2013
- Last updated
- 26 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 11145319Lehwald 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.
PubMed 27105763
Study at a glance
From the registry record, last updated by the sponsor on 26 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
- ClinicalTrials.gov ID
- NCT01966757
- Acronym / sponsor ID
- IRB13-00376
- Conditions
- Neuronal Ceroid Lipofuscinosis, Batten's Disease
- Keywords
- Neuronal Ceroid Lipofuscinosis, NCL, Batten's Disease, Children's Sleep Habits Questionnaire, Restless Leg Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 57 participants (actual)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Collaborators
- Massachusetts General Hospital
- Study start
- Jul 2013
- Primary completion
- Jul 2016 (actual)
- Study completion
- Jul 2016 (actual)
- First posted
- 22 Oct 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Neuronal ceroid lipofuscinosis patients | – | –Caregiver of patient with NCL to provide information regarding patient's sleep habits |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis by biopsy or genetic testing
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (1 listed)
- patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
2 secondary outcomes
Epilepsy onset
Time frame: one year
Blindness
Time frame: one year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jul 2016.
- Background: PubMed 11145319Owens 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.
- Results publication: PubMed 27105763Lehwald 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lenora M Lehwald, MD principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neuronal Ceroid Lipofuscinosis and Batten's Disease, run by Nationwide Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Jul 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sleep disturbance (time frame: one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01966757, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Jul 2016.