# Evaluation of clinical outcome assessment (COA) and potential biomarkers to Facilitate Interventionaltrial for Mucopolysaccharidosis IIID Patients

> **NIH NIH UB1** · PHOENIX NEST, INC. · 2022 · $1,125,627

## Abstract

Project Summary
Sanfilippo disease (mucopolysaccharidosis type III; MPS III) is a devastating neurodegenerative lysosomal
storage disorder of childhood whose pathologic features are neurologic: slowing of development, severe
behavioral problems, progressive cognitive decline, dementia, and decline in motor skills leading to immobility,
unresponsiveness, and death. We have focused on MPS IIID caused by a deficiency of alpha-N-
acetylglucosamine-6-sulfatase (GNS). Because MPS IIID is rare (1 in a million) and affects the brain (which is
difficult to treat) no cure or treatment is available and there are at least five patients in the USA to our knowledge.
Sanfilippo patient organizations have 19 additional cases registered around the world (see letter of support). Dr.
Patricia Dickson and Dr. Tsui-Fen Chou (LABioMed) have developed an enzyme replacement treatment (ERT)
for MPS IIID. Our strategy proposes to deliver recombinant human alpha-N-acetylglucosamine-6-sulfatase
(rhGNS) via intracerebroventricular infusion to effectively treat the underlying causes of the neurologic symptoms
that dominate MPS III pathology. ERTs can have a dramatic effect on the quality of life and patient development
especially when administered early in developments. There are several examples of successfully
commercialized ERT’s (e.g. laronidase (MPS I), idursulfase (MPS II), etc.) and BioMarin recently received
approval for an ERT for a form of Batten disease, CLN2. Other ERTs for MPS I, II, and IIIB are in Phase I trials.
Both the FDA and investors are familiar with ERT and its commercialization path, which will greatly increase the
chances of reaching a clinical trial. LABioMed has filed a US patent on rhGNS and Phoenix Nest, Inc. has
licensed it. Our pivotal nonclinical and manufacturing plans are on track.
We had a positive interaction with the FDA and got guidance for moving our program into the clinics. In
preparation for the interventional study the recommendation was for a thorough natural history study (NHS) in
the available patient population with a broad net to capture endpoints that are most likely to predict the clinical
benefits in each individual. Since the number of diagnosed patients is small the collected data form each
individual would be their own control at the time of intervention, where the patient will receive the recombinant
enzyme. Most of the work will be executed by contracted service providers. The clinical trial itself will be
conducted at NYU under the guidance of Dr. Lau. She has experience with over 10 clinical trials interventional
and observational. The clinical protocol was designed by the team at Phoenix Nest with help of KOLs and clinical
experts in the MPS III field. We have engaged expert third party clinical service providers to help with the
execution, monitoring and data collection. Crucial data collected from the patients on this study will help us
develop clinical outcomes that will be tools for measuring the efficacy of our r...

## Key facts

- **NIH application ID:** 10491916
- **Project number:** 5UB1NS122644-02
- **Recipient organization:** PHOENIX NEST, INC.
- **Principal Investigator:** Srikanth Singamsetty
- **Activity code:** UB1 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $1,125,627
- **Award type:** 5
- **Project period:** 2021-09-21 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10491916

## Citation

> US National Institutes of Health, RePORTER application 10491916, Evaluation of clinical outcome assessment (COA) and potential biomarkers to Facilitate Interventionaltrial for Mucopolysaccharidosis IIID Patients (5UB1NS122644-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10491916. Licensed CC0.

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