Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae (Batten'sCLN6)
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ClinicalTrials.gov Identifier: NCT03285425 |
Recruitment Status :
Recruiting
First Posted : September 18, 2017
Last Update Posted : January 11, 2021
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Condition or disease | Intervention/treatment |
---|---|
Batten Disease CLN6 | Other: Natural history |
Neuronal Ceroid Lipofuscinosis (NCL) is the most common childhood neurodegenerative disorder characterized by accumulation of autofluorescent waxy lipopigments in the brain and other tissues. The symptoms manifest as blindness, seizures, ataxia, myoclonus and loss of milestones or dementia. This group of disorders caused by an intracellular accumulation of lipopigment (ceroid lipofuscin) material leads to neuronal death and is the most prevalent class of childhood neurodegenerative disease.
There are 14 types of NCL with 13 genotypes. Most of these are autosomal recessive. Neuronal ceroid lipofuscinosis, type 6 usually present like a late infantile NCL (CLN2) but can also present at as a juvenile onset (Mole). The natural history is not well established and the presentation maybe variable. There are currently no published data on the disease progression of children with CLN6 disease
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. The investigators will also recruit patients through family conferences of Batten's disease Support and Research association. The investigators propose a retro prospective chart review and longitudinal phone follow-up of with diagnosis of CLN6 to understand the onset and progression of this disease.
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia. The investigators propose a natural history study of this rare disorder since it is currently unknown. Although there are descriptions of the clinical spectrum, the natural history has not been well described. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy for as emerging therapies like gene therapy become available. The investigators will identify children with a genotypic diagnosis of CLN6 who are consulting Nationwide Children's hospital. Patients will also be recruited through family conferences of Batten's disease Support and Research association.
OBJECTIVES:
The primary objectives of this study include the following:
- Assess the natural history of CLN6 by performing a prospective, longitudinal chart review and phone follow-up of patients who have a diagnosis of Batten's disease, with a specific genotype of CLN6.
- To promote better understanding of this disease to compare therapeutic efficacy with emerging therapies
Study Type : | Observational |
Estimated Enrollment : | 30 participants |
Observational Model: | Cohort |
Time Perspective: | Retrospective |
Official Title: | Natural History Study of Batten's CLN6 Disease |
Study Start Date : | January 2017 |
Estimated Primary Completion Date : | January 2022 |
Estimated Study Completion Date : | January 2022 |

- Other: Natural history
Parent interview
- Natural history of disease progression [ Time Frame: Three years ]The investigators will assess historical data for the onset of seizures, blindness, dementia, and loss of motor skills; and will request any available MRIs and EEGs.

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Ages Eligible for Study: | 2 Years to 25 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Confirmed diagnosis of genotypic diagnosis of CLN6
Exclusion Criteria:
- Patients who do not have a genotypic diagnosis of CLN6

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03285425
Contact: Ashley M. Falke, BHS | (614) 722-4644 | ashley.falke@nationwidechildrens.org |
United States, Ohio | |
Nationwide Children's Hospital | Recruiting |
Columbus, Ohio, United States, 43205 | |
Contact: Emily C de los Reyes, MD | |
Contact: Ashley Falke 614-722-4625 ext 24644 |
Responsible Party: | Emily de los Reyes, Principal Investigator, Nationwide Children's Hospital |
ClinicalTrials.gov Identifier: | NCT03285425 |
Other Study ID Numbers: |
IRB16-00554 |
First Posted: | September 18, 2017 Key Record Dates |
Last Update Posted: | January 11, 2021 |
Last Verified: | January 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Batten's disease Neuronal Ceroid Lipofuscinosis |
Neuronal Ceroid-Lipofuscinoses Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Genetic Diseases, Inborn |
Lipidoses Lipid Metabolism, Inborn Errors Metabolism, Inborn Errors Lipid Metabolism Disorders Metabolic Diseases |