USA team awarded funding to study ultra-rare Sanfilippo type D

01 Dec 2021

USA-based biotech company, Phoenix Nest Inc, has been awarded a US$3.4 million grant from the USA government’s National Institute of Health to conduct a natural history study of Sanfilippo syndrome type D.

Type D is the rarest subtype of Sanfilippo and is caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate.

Phoenix Nest Inc. is developing treatments for Sanfilippo syndrome types C and D and has previously been awarded grants from the NIH to progress their work into an enzyme replacement therapy for type D.

However, clinical trials for Sanfilippo type D will only be possible with a comprehensive understanding of the typical, untreated, disease course. This will allow the progress and outcomes of patients treated in the trial to be compared against what would be expected for untreated patients. 

At the moment, there is only extremely limited data available on the natural history of Sanfilippo type D. The new grant will allow Phoenix Nest to conduct a retrospective and prospective observational study in the global Sanfilippo type D patient population.

The study will collect clinical data prospectively in the hospital setting when the patient attends their clinical visits. For other patients, including deceased patients, families can choose to provide consent for the team to collect data retrospectively by examining their past clinical notes.

The ultimate goal is to identify endpoints and outcome measures that can be used to assess the clinical benefits of experimental therapies during an interventional trial. 

The study will be led by Dr Heather Lau and Dr Pramod Mistry at the Yale University Lysosomal Disease Center. For more information view the media release from Phoenix nest Inc.