Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae

Batten Disease Clinical Trial

— Batten'sCLN6  

Official title:

Natural History Study of Batten's CLN6 Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03285425
• Other study ID #: IRB16-00554
• Status: Recruiting
• Start date: January 2017
• Est. completion date: January 2025

Study information

• Verified date: October 2022
• Source: Nationwide Children's Hospital
• Contact: Ashley M. Falke, BHS
• Phone: (614) 722-4644
• Email: ashley.falke[@]nationwidechildrens.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: January 2025
• Est. primary completion date: January 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 25 Years

Eligibility

Inclusion Criteria:

• Confirmed diagnosis of genotypic diagnosis of CLN6

Exclusion Criteria:

• Patients who do not have a genotypic diagnosis of CLN6

Related Conditions & MeSH terms

• Batten Disease
• CLN6
• Neuronal Ceroid-Lipofuscinoses

Intervention

Other:
• Natural history
Parent interview

Locations

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

Sponsors (1)

Lead Sponsor	Collaborator
Emily de los Reyes

Country where clinical trial is conducted

United States, 

References & Publications (4)

Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N, Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul 28;85(4):316-24. doi: 10.1212/WNL.0000000000001784. Epub 2015 Jun 26. — View Citation

Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb;70(2):324-35. Epub 2001 Dec 21. — View Citation

Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17. — View Citation

Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003 Jul;22(1):35-42. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Natural history of disease progression	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.	Three years