Understanding rare storage diseases over time
Part of Bones, joints & muscles, Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study follows people with rare genetic conditions (GM1, GM2, sialidosis, or galactosialidosis) that affect how the body breaks down certain substances in cells. Researchers track how these diseases progress to better understand them and potentially help future patients.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a confirmed diagnosis of GM1 gangliosidosis, GM2 gangliosidosis, sialidosis, or galactosialidosis
- Your diagnosis was confirmed by enzyme testing or genetic mutation analysis in a certified lab
- You are willing to be contacted for periodic study visits and information gathering
- If you are under 18, a parent or legal guardian must consent; you may be asked to assent if able
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.
This early-stage study tests an IV gene therapy that delivers a working copy of an enzyme gene to help the body make beta-galactosidase in GM1 gangliosidosis. It may help slow or improve disease symptoms and looks closely at safety and how well the treatment works.
This research study evaluates people with inherited neurological conditions (nervous system disorders that run in families) and their relatives. Researchers aim to better understand these conditions and improve diagnosis through clinical exams and genetic testing.
This study looks at physical and body features in people with creatine transporter deficiency caused by a specific gene change (SLC6A8). It may help doctors better understand the condition and how it shows up, which can improve future care.
This study helps doctors diagnose congenital (from birth) glycosylation disorders, which are inherited conditions that affect how the body builds certain sugar-related proteins. You (or your child) may have clinic visits, blood or other samples, and possibly genetic testing—especially if there are family members with a known or suspected condition.
This study follows people with gangliosidosis to better understand how the condition changes over time. You may be asked to complete thinking/behavior tests and, if you have late-onset disease, get a head MRI (a painless scan) to help researchers track changes in the brain.
Hear when a new Myoclonus trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.