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.
1. UPenn Orphan Disease Center
UPenn Orphan Disease Center Natural History Study
Access the trial information on clinicaltrials.gov
2. Azafaros Natural History Study
GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO) (PRONTO)
Enrollement Closed. The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
Access the trial information on clinicaltrials.gov
PRONTO Video and Clinical Trial Hub
Please visit our Take Action Page to learn about what else you can do to help Cure GM1.
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.