Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure

  • Jill Wood, Stuart Siedman, Jennifer Siedman, Paul Levy, Kyle Brown, Kim McBride, Kevin Flanigan, Raquel Marques, Arleta Feldman, Robert PleHcha, Sean Ekins
  • Orphanet Journal of Rare Diseases, January 2014, Springer Science + Business Media
  • DOI: 10.1186/1750-1172-9-s1-p7

Sanfilippo registry

What is it about?

A collaboration between rare disease families / patients to develop a registry and natural history study for type C and D.

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.


Dr Sean Ekins
Collaborations in Chemistry

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.

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The following have contributed to this page: Dr Sean Ekins