What is it about?
A collaboration between rare disease families / patients to develop a registry and natural history study for type C and D.
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Why is it important?
Sanfilippo syndrome is a rare disease with small number of patients and several groups working on potential treatments. Natural history studies will be needed for future clinical trial comparisons and registries will be needed to locate the patients for these trials.
Perspectives
As CEO of Phoenix nest working on treatments for Sanfilippo C and D these efforts are very important for future success in bringing treatments to this disease community.
Dr Sean Ekins
Collaborations in Chemistry
Read the Original
This page is a summary of: Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure, Orphanet Journal of Rare Diseases, January 2014, Springer Science + Business Media,
DOI: 10.1186/1750-1172-9-s1-p7.
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Contributors
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