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Trial record 11 of 25 for:    Child | "congenital neuronal ceroid lipofuscinosis" OR "Neuronal Ceroid-Lipofuscinoses"

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 : September 18, 2017
Sponsor:
Information provided by (Responsible Party):
Emily de los Reyes, Nationwide Children's Hospital

Brief Summary:
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. It is important to understand disease progression in CLN6 disease to be able to judge therapeutic efficacy as emerging therapies like gene therapy become available.

Condition or disease Intervention/treatment
Batten Disease CLN6 Other: Natural history

Detailed Description:

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:

  1. 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.
  2. To promote better understanding of this disease to compare therapeutic efficacy with emerging therapies

Study Type : Observational
Estimated Enrollment : 15 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 2020
Estimated Study Completion Date : January 2020



Intervention Details:
  • Other: Natural history
    Parent interview


Primary Outcome Measures :
  1. 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
Study Population
Study population will consist of children or adolescents (minors).
Criteria

Inclusion Criteria:

  • Confirmed diagnosis of genotypic diagnosis of CLN6

Exclusion Criteria:

  • Patients who do not have a genotypic diagnosis of CLN6

Information from the National Library of Medicine

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


Contacts
Contact: Emily C. de los Reyes, MD (614) 722-4812 emily.delosreyes@nationwidechildrens.org
Contact: Ashley M. Falke, BHS (614) 722-4644 ashley.falke@nationwidechildrens.org

Locations
United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Emily C de los Reyes, MD    614-722-4625 ext 24638    Emily.delosreyes@nationwidechildrens.org   
Contact: Ashley Falke    614-722-4625 ext 24644      
Sponsors and Collaborators
Emily de los Reyes

Publications:
Responsible Party: Emily de los Reyes, Principal Investigator, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT03285425     History of Changes
Other Study ID Numbers: IRB16-00554
First Posted: September 18, 2017    Key Record Dates
Last Update Posted: September 18, 2017
Last Verified: April 2017
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

Keywords provided by Emily de los Reyes, Nationwide Children's Hospital:
Batten's disease
Neuronal Ceroid Lipofuscinosis

Additional relevant MeSH terms:
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