The Sanfilippo Syndrome Patient Registry and Why It Is Important

The Sanfilippo Syndrome Patient Registry and Why It Is Important
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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.

The registry

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.

The surveys

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.

Possible therapies

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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Sanfilippo Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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