This study is observing the natural progression of rare genetic conditions called GM1 or GM2 gangliosidosis, sialidosis, and galactosialidosis. These conditions are lysosomal storage disorders or glycoprotein disorders that affect the brain, bones, and nervous system. Researchers want to understand how these diseases develop over time and identify markers that could help in future treatment trials. You may be eligible if you have a confirmed diagnosis of one of these conditions through enzyme or genetic testing. The study will track changes in your health over one to two years to learn more about these diseases.

Study design

This is an observational study, meaning researchers will watch and collect information without providing any interventions. It aims to enroll 200 participants of all ages and genders.

What's involved

You would have evaluations every 6 months for infantile onset disease, yearly for juvenile onset, and approximately every two years for adult-onset disease, as long as you are able to travel. These evaluations may include MRI/MRS scans, hearing tests, EEG, sleep studies, and specialist assessments.

Compensation

Not stated in the trial record.

Follow-up

Your health will be assessed one to every two years to track the natural history of the diseases.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.