$3.4M NIH Grant Will Launch Natural History Study in Type D

Yedida Y Bogachkov PhD avatar

by Yedida Y Bogachkov PhD |

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A $3.4 million grant from the National Institutes of Health (NIH) will fund a new natural history study — an observational study that follows a group of people over time — for patients with Sanfilippo syndrome type D.

The natural history study will be led by two Yale School of Medicine researchers, from the university’s Lysosomal Disease Center, with patient recruitment expected to begin in March of next year.

Those interested can reach out to the study coordinator, Ruby Yang, at the Connecticut center, by email at [email protected] or by phone at 203-785-3197.

The grant was awarded to biotech company Phoenix Nest by the National Institute of Neurological Disorders and Stroke (NINDS), an institute of the NIH, and will be used to facilitate a retrospective and prospective observational study among the world’s Sanfilippo type D patient population, according to a press release.

Phoenix Nest is working on developing treatments for Sanfilippo syndrome types C and D, and previous grants from the NIH have funded the development of an enzyme replacement therapy (ERT) for type D. Through ERT, a patient’s dysfunctional enzyme can be replaced with a functional one. However, clinical trials testing such therapies for type D will only be possible, according to researchers, with an understanding of the full, untreated disease course.

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“We are excited to initiate this clinical trial funded by NINDS, it puts us a step closer to bringing our promising experimental therapy to the patients,” Srikanth Singamsetty, PhD, scientific director of Phoenix Nest, said in a separate press release.

“Our MPS IIID ERT [enzyme replacement therapy] program is making steady progress in nonclinical and manufacturing development,” Singamsetty said.

The new NIH grant — the fourth to Phoenix Nest relating to the research and development of its ERT for Sanfilippo type D — brings the institute’s total funding to date to $10.7 million, the company said.

Type D is the rarest form of Sanfilippo, caused by mutations in the GNS gene. That gene codes for N-acetylglucosamine-6-sulfatase enzyme, a protein responsible for removing sulfate groups from the end of certain sugar molecules.

Because rare diseases affect small populations, they tend to be poorly understood, as compared with more common disorders. That lack of knowledge, and of hard data, can complicate clinical trial designs, as there may be too few individuals with the condition being studied to generate strong results.

Natural history studies help to fill in these knowledge gaps and can be used as a form of experimental control. Such studies are observational in nature, and seek to identify demographic, genetic, and environmental factors, among others, that relate to the development and outcomes of the disease.

Researchers Heather Lau, MD, a neurologist, and Pramod Mistry, MD, PhD, a gastroenterologist, will lead the study at the Yale Lysosomal Disease Center.

“Phoenix Nest has done an incredible job in designing an observational study that encompasses all aspects of daily living activities, disease progression and clinical assessments for a disease that has yet to establish a natural history,” Lau said.

This natural history study of Sanfilippo type D patients will collect data in three different ways: using video recordings to capture patients’ functional abilities, collecting clinical data during appointments, and examining past clinical notes.

The company hopes that the natural history study can help identify endpoints and outcome measures that can ultimately be used to assess the benefit of its experimental therapies during clinical trials.