# A tandem mass spectrometry diagnostic test for newborn screening of Tay-Sachs and Sandhoff diseases

> **NIH NIH R41** · GELBCHEM, LLC · 2022 · $233,231

## Abstract

Summary
The goal of this project is to develop a tandem mass spectrometry assay for newborn screening
of GM2-gangliosidosis for which several treatment options are being developed. GM2-
gangliosidosis includes Tay-Sachs and Sandhoff diseases, inherited metabolic disorders which
cause a progressive deterioration of nerve cells. Tay-Sachs disease is caused by HexA enzyme
deficiency and Sandhoff disease is caused by deficiency of both HexA and HexB enzymes. The
incidence of these disorders is high among certain populations around the world. For example,
in the Ashkenazi Jewish population the Tay-Sachs incidence is about 1 in every 3,500 newborns
and the carrier frequency is 1 in every 29 individuals. The carrier frequency of Sandhoff disease
range from 1:310 in the general population to 1:7 in isolated communities with a high degree of
consanguinity. In this project, a method for simultaneous detection of Tay-Sachs and Sandhoff
disease suitable for newborn screening will be developed. A punch from a dried blood spot (DBS)
on a newborn screening card is used as a source of the enzyme (HexA and HexB). DBS will be
incubated with a cocktail containing two synthetic substrates (a specific HexA substrate and a
HexA/B substrate) to allow formation of two enzymatic products which will be then quantified by
tandem mass spectrometry (MS/MS). Our method would require one single incubation and one
MS/MS injection.

## Key facts

- **NIH application ID:** 10484192
- **Project number:** 1R41HD109092-01
- **Recipient organization:** GELBCHEM, LLC
- **Principal Investigator:** Michael H Gelb
- **Activity code:** R41 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $233,231
- **Award type:** 1
- **Project period:** 2022-07-08 → 2023-10-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10484192

## Citation

> US National Institutes of Health, RePORTER application 10484192, A tandem mass spectrometry diagnostic test for newborn screening of Tay-Sachs and Sandhoff diseases (1R41HD109092-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10484192. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*