
Identification of Glycosaminoglycans for Newborn Screening and Therapeutic Monitoring of MucopolysaccharidosesAward last edited on: 5/21/2023
Sponsored Program
SBIRAwarding Agency
NIH : NICHDTotal Award Amount
$1,526,217Award Phase
2Solicitation Topic Code
865Principal Investigator
Rainer NgCompany Information
Phase I
Contract Number: 1R44HD102242-01Start Date: 9/1/2020 Completed: 8/31/2021
Phase I year
2020Phase I Amount
$194,426Public Health Relevance Statement:
PROJECT NARRATIVE Mucopolysaccharidoses (MPS) are metabolic diseases caused by a deficiency in a specific enzyme necessary for the breakdown of complex sugars called glycosaminoglycans (GAGs). The accumulation of GAGs as a result of an MPS disease causes a spectrum of health problems; therapies exist for MPS disorders if a newborn is diagnosed early through newborn screening (NBS). We propose an innovative and groundbreaking platform for identification of GAGs to screen newborns for MPS disorders and also for monitoring of GAG levels during enzyme replacement therapy. This tool will be highly resourceful and add significant market value to the NBS and MPS patient communities.
Project Terms:
Advocate; Affect; assay development; base; Biochemistry; Biological Assay; Birth; Blood; Blood specimen; bone; Categories; Cessation of life; Chondroitin; Chondroitin Sulfates; CLIA certified; Clinical; clinically actionable; commercialization; Communities; Complex; Data; Dermatan Sulfate; Development; digital; Disaccharides; Disease; Dose; Early Diagnosis; Early identification; effective therapy; Environment; enzyme deficiency; enzyme replacement therapy; Enzymes; Future; gene panel; Genes; Glycosaminoglycan Degradation Pathway; Glycosaminoglycans; Gold; Health; Heart; Heparitin Sulfate; high throughput screening; Individual; Inherited; innovation; instrument; Joints; Keratan Sulfate; Laboratories; Lead; Legal patent; Life; Longevity; Longitudinal Studies; Measurement; Measures; Metabolic Diseases; Methodology; Methods; Methylene blue; Microfluidics; Monitor; Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Neonatal Screening; Nervous system structure; Neuraxis; Newborn Infant; next generation sequencing; novel; Patients; Performance; Phase; point of care; premature; Public Health; rare genetic disorder; Respiratory System; response; Running; Sampling; screening; screening panel; Specimen; Spottings; sugar; Sulfate; tandem mass spectrometry; Technology; technology development; Testing; Therapeutic; Time; Tissues; tool; Translating; Treatment Efficacy; uptake; Urine; Whole Blood
Phase II
Contract Number: 4R44HD102242-02Start Date: 9/21/2021 Completed: 8/31/2023
Phase II year
2021(last award dollars: 2022)
Phase II Amount
$1,331,791Public Health Relevance Statement:
PROJECT NARRATIVE Mucopolysaccharidoses (MPS) are metabolic diseases caused by a deficiency in a specific enzyme necessary for the breakdown of complex sugars called glycosaminoglycans (GAGs). The accumulation of GAGs as a result of an MPS disease causes a spectrum of health problems; therapies exist for MPS disorders if a newborn is diagnosed early through newborn screening (NBS). We propose an innovative and groundbreaking platform for identification of GAGs to screen newborns for MPS disorders and also for monitoring of GAG levels during enzyme replacement therapy. This tool will be highly resourceful and add significant market value to the NBS and MPS patient communities.
Project Terms: