A natural history study is one that follows a group of people with a specific disease, which has no intervention. The study takes place over a long period of time, from the onset of the disease over the course of the patient’s lifetime. The information gathered can include patient symptoms, testing samples, the care they receive, clinician reports, and quality of life evaluations. Researchers study the data to better understand the subtleties of the condition and how it affects a population broadly.
In the case of rare diseases, like GM1 gangliosidosis, this information is critical in the development of drugs. Unfortunately this information is usually not available to researchers or is incomplete. This makes the data that does get collected especially valuable. It has the potential to bring about new understandings and breakthroughs, and can be used to develop safe and effective drugs and treatments.
When you participate in a natural history study, you are helping everyone who suffers from GM1.
Please always consult your physicians regarding medical decisions. The Cure GM1 Foundation does not prescribe medications or treatments and we can not specifically endorse a treatment which is not FDA-approved. This information is being shared for informational purposes for you to discuss with your doctors.
Cure GM1 and its board members, moderators, or volunteers working for Cure GM1 can not offer or undertake to diagnose, cure, or treat in any manner, or by any means, methods, devices, or instrumentalities any disease, illness, pain, wound, fracture, infirmity, deformity, defect, or abnormal physical or mental condition of any person.
Natural History Studies Enrolling Now
As of October 2026, two natural history studies that include GM1 gangliosidosis are recruiting, according to ClinicalTrials.gov.
NIH: Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (NCT00029965)
- Where: National Human Genome Research Institute (NHGRI), NIH Clinical Center, Bethesda, Maryland
- Who can join: people of any age with GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis, confirmed by enzyme or genetic testing
- Details and study contacts: NCT00029965 on ClinicalTrials.gov
University of Minnesota: A Natural History Study of the Gangliosidoses (NCT00668187)
- Where: University of Minnesota, Pediatric Genetics and Metabolism, Minneapolis, Minnesota
- Who can join: people with a documented gangliosidosis who can complete the study’s developmental and behavioral assessments (people with late-onset forms must be able to have a head MRI)
- Details and study contacts: NCT00668187 on ClinicalTrials.gov
Share Data From Home: The GM1 Matrix
Families can also contribute to GM1 research from home through the GM1 Matrix, Cure GM1’s patient data platform built with Combined Brain. Learn more and register for the GM1 Matrix.
Enrollment status can change. Check the study pages above for the latest status, or email info@curegm1.org if you need help contacting a study team.
Frequently Asked Questions
Does participating in a natural history study mean patients receive gene therapy or treatment?
No, participation in a natural history study does not mean a patient will receive gene therapy or treatments. A natural history study is intended to learn about the natural course of the disease without treatment.
Does being in a natural history study mean not participating in a treatment clinical trial?
At any time, patients can withdraw from a natural history study should the opportunity arise to participate in a treatment clinical trial. Patients who are participating in a treatment clinical trial can not participate in a natural history study.
Why participate if there is no treatment?
While a natural history study does not offer treatment, it is necessary and extremely helpful to provide data to increase the understanding of the disease overall. Natural history data can be used as a comparator as opposed to placebo in treatment trials. Furthermore, seeing specialists and undergoing testing for a natural history study can be helpful for monitoring and overall medical care.
Is it possible to opt out of procedures in the natural history study?
Please discuss the study with the principal investigators. If there is a procedure such as a lumbar puncture or any other procedure that you wish to decline, you should make your wishes known.