The Connect MPS Patient Registry was created in 2016 to learn more about Sanfilippo syndrome and mucolipidoses (ML). 24 advocacy organizations are a part of this registry, all of which help to establish disease characteristics, disease severity, treatment options at various clinics, and patient experience.
About Sanfilippo Syndrome
Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is a disease in which the body cannot break down long chains of sugar molecules due to a lack of enzymes. These chains then accumulate, causing the symptoms of Sanfilippo syndrome. This syndrome comes in four forms: A, B, C, and D, with A being the most severe.
The onset of symptoms typically occurs about a year after birth, but they are most severe between the ages of two and six. Symptoms include:
- Developmental issues
- Behavioral and personality issues
- Coarse facial features
- Sleep difficulties
- Stiff joints that may not extend fully
- Walking problems
This syndrome is inherited in an autosomal recessive pattern, meaning both parents must pass down the mutated gene in order for a child to be affected.
Doctors will diagnose Sanfilippo syndrome through a urinalysis, blood or skin sample, or genetic testing. Enzyme replacement therapy has been shown to be effective in other forms of mucopolysaccharidosis , but not this type. Treatment is symptomatic and supportive.
About the Patient Registry
The purpose of this registry is to give medical professionals a better understanding of Sanfilippo syndrome and ML. With access to patient information, they can better understand the natural history of these diseases, find commonalities, and pinpoint differences.
Medical professionals discover all of this information through surveys. The topics will range from one’s diagnostic process to general health to family history.
Patient rights are very important as well; all patient data is de-identified, ensuring that patients are protected. They also have the option to opt out of the registry at any time. Clinical trials are also an option for patients on this registry, as pharmaceutical companies, researchers, clinicians, and advocacy organizations are all part of the network.
The end goal of this registry is to find better, more effective treatments for those with ML and Sanfilippo syndrome. If you are interested in the registry, find it here.
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