Anakinra shows promise in reducing symptoms in patients with Sanfilippo syndrome

The Lundquist InstituteJun 21 2024 With no approved treatment, clinical specialists have had few options to help alleviate this suffering until now.

Sanfilippo syndrome, also known as mucopolysaccharidosis type III , is considered an orphan disease, which classifies it for special considerations in drug development and policy. It is a rare genetic disorder in which the body is unable to break down the complex molecule heparan sulfate. Accumulation of heparan sulfate in cells then triggers several biological consequences, including inflammation, ultimately leading to progressive dementia and body-wide disease.

Dr. Lynda Polgreen, the study's principal investigator, expressed optimism about the results, "The changes we observed in our patients represent significant improvements in the day-to-day lives of individuals with Sanfilippo syndrome and their families. This trial highlights the potential of anakinra as an adjunctive treatment option and underscores the broader importance of targeting downstream effects, such as inflammation, in lysosomal diseases.

"Funding provided by Cure Sanfilippo Foundation to support all clinical trial activities and patient travel was made possible by generous donors and families who support the Foundation's mission; creating new opportunities to transform lives. We look forward to partnering with The Lundquist Institute to advance additional clinical programs," said Cure Sanfilippo Foundation President and Co-Founder Glenn O'Neill.

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