The Sanfilippo Syndrome Patient Registry and Why It Is Important
If your child has Sanfilippo syndrome or mucolipidosis (ML), it is very important that you register them with the Connect MPS Patient Registry. Among other things, your information ultimately could help scientists develop new treatments for lysosomal storage diseases.
Launched in 2016, the collaborative registry is for all forms of Sanfilippo syndrome (also known as mucopolysaccharidosis type III – MPS III), and ML, a related group of inherited metabolic disorders. MPS affects about one in 70,000 individuals.
Joined by at least 24 advocacy groups from around the world, researchers use the patient and family registry to establish disease characteristics. The registry also aims to understand differences in disease severity, learn how clinics manage the diseases, and discover the outcomes patients experience.
The goal is to help scientists understand the natural history of Sanfilippo syndrome and associated diseases. At the same time, it potentially can help researchers uncover commonalities and differences between these diseases. Because it guards your privacy (only de-identified data are shared), the registry provides a safe way to help researchers overcome scientific gaps.
Linking researchers, pharmaceutical companies, clinicians, and advocacy organizations, Connect MPS also provides a pool of candidates for clinical trials in a single location.
You can choose to receive information about research studies and upcoming trials that are relevant to you. You may opt-in or opt-out of the registry at any time.
Through surveys about your experiences, you’re able to see how your health information fits into the larger disease picture globally. This information can enhance what researchers already know about how Sanfilippo syndrome and ML affect lives.
One survey is about disease diagnosis. It asks questions about initial clinical evaluation, for example, and whether it was the patient, a family member, or a medical provider who first noticed the symptoms.
There are other surveys about medical care, family history, general health, and the referring organization.
After survey completion, you are able to view aggregate data illustrating how other people answered the same questions. Other stakeholders have access, for example, to annual out-of-pocket and payer costs for medications and other treatments.
Although studies are underway, particularly related to gene therapy, current treatments can only ease symptoms. The overarching goal of the registry is to find better treatments, faster. Researchers may use your data to develop new therapies to treat Sanfilippo syndrome.
Last updated: April 14, 2020
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