Rare disease registries for certain lysosomal storage disorders, including, but not limited to, Fabry, Gaucher, MPS I, and Pompe diseases (each, a Registry)

Description

The Rare Disease Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe diseases) is a multi-center, international, longitudinal, observational program that tracks the natural history and outcomes of patients with these rare diseases.

Protocol Number: Rare Disease Registry

Design:

The Registry program is a multi-center, international, observational program for patients with these rare diseases that was designed to track the natural history and outcomes of patients. No experimental intervention is given; thus, a patient will undergo clinical assessments and receive standard of-care treatment as determined by the patient’s physician. As the Registries are a voluntary program, the total number of patients with these diseases who will participate in the Registries and the associated person-years of follow-up are not pre-defined, as not all patients have been identified, nor will all patients wish to participate. The Registry databases have been designed to collect a variety of baseline and follow-up data obtained through routine clinical and laboratory assessments. All data submission is voluntary and there are no pre-determined follow-up periods. Participating sites are encouraged to enter comprehensive baseline data at enrollment and to perform follow-up assessments at regular intervals. While the protocols provide Recommended Schedules of Assessments, each physician is solely responsible for determining the appropriate clinical care for each patient.

Details