Neuronal ceroid lipofuscinosis

This early study tests a one-time gene therapy injection under the retina for children with CLN2 Batten disease who already receive enzyme therapy. The main goal is to check safety in 16 participants, with a secondary look at whether it can preserve vision. It is a first-in-human…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This study follows 2,800 unpaid caregivers of people with chronic conditions like diabetes or inherited disorders. Researchers will survey and interview caregivers over up to 5 years to track changes in their health, stress, and social support. The goal is to understand how careg…

This study looks back at 483 patients who had small rectal neuroendocrine tumors (less than 2 cm) removed using one of two endoscopic techniques: endoscopic submucosal dissection (ESD) or endoscopic partial muscle resection (EPMR). The goal is to compare how often each method lea…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is building a registry of 50 people with NCL, a rare and severe brain disorder. Researchers will collect detailed clinical data, biomarkers, and patient-reported outcomes over time. The goal is to better understand the disease's natural history and develop tools that c…

This study follows 300 people with CLN3 Batten disease, a rare genetic disorder that causes vision loss, seizures, and decline in thinking and movement. Researchers collect samples like blood and spinal fluid to find biological markers that could be used in future treatment trial…

This study follows 1500 people with rare genetic brain disorders to learn how these diseases progress. Researchers measure thinking, movement, and daily living skills over time, and also look at brain scans and body fluids. The goal is to better understand the diseases and how tr…

This study follows 500 children and adults with Batten disease to learn how the condition naturally changes over time. Researchers will measure movement, thinking, behavior, and daily function using a special rating scale. The goal is to better understand the disease and improve …