Study of Juvenile Neuronal Ceroid Lipofuscinosis CLN3 and Related Conditions to Identify Clinical and Biochemical Markers and Collect Samples for Future Research

What this Trial Is About

Researchers are studying Juvenile Neuronal Ceroid Lipofuscinosis CLN3, also known as Batten disease, a genetic disorder that causes decline in brain and nervous system functions affecting vision, thinking, movement, and sometimes causing seizures. Symptoms usually start between ages 4 and 7, and there are currently no effective treatments. The study aims to find clinical and biochemical markers that can be used to measure treatment outcomes and to better understand the disease for future therapies. Participants include individuals diagnosed with CLN3 or related conditions as well as their family members. They will provide various biological samples such as spinal fluid, blood, urine, and skin, and may also contribute medical records or photos. Multiple healthcare specialists will evaluate them, and collected samples may be shared with other researchers for testing, with privacy protections in place. During the study, participants will undergo assessments to collect baseline and progression data on clinical and biochemical markers. Researchers will establish a biorepository of samples for future research. The study will monitor tolerability and feasibility of assessments and aims to provide tools for future therapeutic trials. Participation may involve yearly follow-ups, and the study is ongoing with no fixed end date.

Investigations of Juvenile Neuronal Ceroid Lipofuscinosis