Investigations of Juvenile Neuronal Ceroid Lipofuscinosis

Description

Study Description:

The purpose of this protocol is to obtain both baseline and rate of progression data on clinical and biochemical markers that may later be used as an outcome measure in a clinical trial, and to establish a biorepository of samples from participants with CLN3 or CLN3-

related conditions. For comparisons, focused clinical data and relevant evaluations and biospecimens will also be collected from individuals with Neuronal Ceroids Lipofuscinosis (NCL) of other types and from family members of all affected individuals.

Objectives:

Primary Objective:

1. Identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3-related conditions.
2. Evaluate clinical aspects of CLN3-related conditions to provide tools for future therapeutic trials.

Secondary Objectives:

Establish a biorepository of samples from well-characterized individuals with CLN3-related conditions, and family members of individuals with CLN3-related conditions, for future research related to CLN3.

Endpoints:

Primary Endpoint:

1. Blood, urine, or CSF biomarkers.
2. Proportion of participants who achieve a clinically valid and interpretable score on administered measures.
3. Scores obtained for each administered measure.

Secondary Endpoints:

Tolerability and feasibility of each measure of the clinical battery of assessments based on clinician observation.