Learn About CLN4 Disease

What is the definition of CLN4 Disease?

CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.

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What are the causes of CLN4 Disease?

Mutations in the DNAJC5 gene cause CLN4 disease. The DNAJC5 gene provides instructions for making a protein called cysteine string protein alpha (CSPα). This protein is found in the brain, where it plays a role in the transmission of nerve impulses, helping nerve cells communicate with each other. Specifically, CSPα is involved in recycling certain proteins that are involved in nerve impulse transmission by refolding misshapen proteins so that they can be used in additional transmissions.

How prevalent is CLN4 Disease?

CLN4 disease is a rare disorder, but its prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.

Is CLN4 Disease an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest CLN4 Disease Clinical Trials?
Clinical and Neuropsychological Investigations in Batten Disease

Summary: This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.

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An Open-label Safety, Pharmacokinetic, and Efficacy Study of the Combination of Miglustat for the Treatment of CLN3 Disease in Patients 17 Years of Age and Older

Summary: This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects ≥ 17 years of age with CLN3 disease over a period of 104 weeks.

Who are the sources who wrote this article ?

Published Date: August 01, 2020Published By: National Institutes of Health

What are the Latest Advances for CLN4 Disease?