# A Comprehensive Newborn Screening Solution for Duchenne and Congenital Muscular Dystrophies

> **NIH NIH R44** · BAEBIES, INC. · 2020 · $666,412

## Abstract

Congenital genetic abnormalities are a leading cause of childhood mortality and morbidity. While routine
newborn screening (NBS) has dramatically improved health outcomes, many congenital disorders such as
Duchenne muscular dystrophy (DMD) and other congenital muscular dystrophies (CMD) are not currently
detected by routine NBS. Presymptomatic identification through NBS is critical to facilitate earlier initiation of
therapies and for improved long-term outcomes of patients with DMD or other CMDs. With several new
therapies on the horizon, the interest in DMD screening has grown considerably and there is reason to believe
testing may be adopted for public health screening in the next five years.
The goal of this Fast Track SBIR project is to develop a complete testing solution for efficient newborn
screening of DMD and CMDs from dried blood spot (DBS) specimens. The system will consist of automated,
low volume biochemical assays for creatine kinase (CK) enzyme activity and CK isoform expression (CK-MM
and CK-MB) followed by 2nd-tier targeted next generation sequencing (tNGS) in CK (+) individuals to detect
common casual gene variants associated with DMD and CMDs. The proposed 1st-tier biochemical tests will
leverage Baebies' proprietary SEEKERTM platform, which is FDA cleared for NBS of lysosomal storage
disorders, to provide high throughput, multi-analyte CK testing to the newborn screening market. The
biochemical measurements will be combined into a decision algorithm to reduce false positives and eliminate
false negatives. A similar strategy is used successfully in some state NBS programs for detection of thyroid
conditions, where TSH and T4 are measured simultaneously and correlated to better define disease state. The
addition of tNGS for 2nd-tier analysis will provide further precision to our system and has the potential to
revolutionize the care of infants and young children with elevated CK levels.
After initial validation of the system, the next steps will be to extend the clinical portion of the study to generate
evidence for nomination to the Recommended Universal Screening Panel (RUSP), which states use to inform
their NBS offerings. We anticipate further validation within a Phase IIB trial concomitant with seeking CLIA
certification for the screening service and eventually FDA approval of the biochemical test system. The final
product of this research will be differentiated from competing single analyte CK tests for NBS by its use of an
automated, multianalyte biochemical assay (at minimal added cost compared to single analyte tests due to the
tiny reagent volumes required) and the rapid, small sample tNGS workflow – which combined will enable
efficient identification of newborns at risk for DMD/CMDs with lower false positive rates and no false negatives.

## Key facts

- **NIH application ID:** 9927653
- **Project number:** 5R44HD095713-03
- **Recipient organization:** BAEBIES, INC.
- **Principal Investigator:** Viren R Amin
- **Activity code:** R44 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $666,412
- **Award type:** 5
- **Project period:** 2019-05-08 → 2022-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9927653

## Citation

> US National Institutes of Health, RePORTER application 9927653, A Comprehensive Newborn Screening Solution for Duchenne and Congenital Muscular Dystrophies (5R44HD095713-03). Retrieved via AI Analytics 2026-06-11 from https://api.ai-analytics.org/grant/nih/9927653. Licensed CC0.

---

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