Project Grant R56HD120276
- The National Institute of Child Health and Human Development awarded Icahn School of Medicine at Mount Sinai $726,448 on August 13, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to discover novel inhibitors of the AASS enzyme as a treatment for glutaric aciduria type 1 through substrate reduction. Glutaric aciduria type 1 (GA1) is an autosomal recessive inborn error of metabolism caused by deficiency of glutaryl-CoA dehydrogenase, leading to...
- The National Institute of Child Health and Human Development awarded the University of Florida $419,375 on June 2, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to develop a combined pharmacological and gene therapy approach for pyruvate dehydrogenase complex deficiency in children. The research combines dichloroacetate (DCA), an oral medication that stimulates residual pyruvate dehydrogenase complex activity, with next-generation adeno-associated...
- The National Institute of Child Health and Human Development awarded University of California Irvine $431,750 on September 1, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to develop an oligonucleotide-based therapeutic targeting muscle glycogen synthase 1 (GYS1) as a substrate inhibitor for Pompe disease. The award funds preclinical research to suppress GYS1 expression using antisense oligonucleotides (ASOs), designed to reduce glycogen...
- The National Institute of Neurological Disorders and Stroke awarded a cooperative agreement of $649,600 to The Regents of the University of California, San Francisco on April 1, 2026, to develop prenatal AAV9 gene replacement therapy for patients with severe infantile GM1 gangliosidosis. The award funds research into prenatal somatic cell gene therapy (PSCGT) targeting GM1 gangliosidosis, a severe, fatal neurodegenerative lysosomal storage disorder resulting from biallelic mutations in the...
- FEDERAL GRANT AWARD SUMMARY Cincinnati Children's Hospital Medical Center received a $803,958 Project Grant award (announced July 23, 2025) from the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853). The award supports research and development of an innovative nanocarrier-based therapeutic delivery system designed to treat neuronopathic Gaucher disease (NGD), a severe...
- Federal Project Grant Award Summary Cincinnati Children's Hospital Medical Center received a $441,375 Project Grant from the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), awarded August 1, 2025, with completion targeted for July 31, 2027. The grant supports the development and application of microglia-integrated brain organoids for modeling neuronopathic Gaucher disease (NGD) and...
- The National Institute of Child Health and Human Development awarded University of Massachusetts Medical School $460,625 on June 1, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to develop humanized muscle xenograft models for optimizing and assessing genome editing therapeutics targeting limb-girdle muscular dystrophy R9 (LGMDR9). The project delivers two specific research aims. Aim 1 optimizes prime editing correction of the FKRP L276I mutation in...
- The National Institute of Child Health and Human Development awarded Duke University $686,184 on July 1, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to conduct research on the transcriptional and environmental regulation of lysosome-rich enterocytes. The research characterizes the mechanisms governing formation and function of lysosome-rich enterocytes (LREs) in the neonatal ileum, specialized absorptive cells that uptake and digest dietary...
- The National Institute of Neurological Disorders and Stroke (NINDS) awarded the University of Massachusetts Medical School $659,245 on March 1, 2026, under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853) to develop a gene therapy for UBA5 deficiency, an ultra-rare autosomal recessive neurological disease. UBA5 deficiency presents in patients with infantile spasms, failure to thrive, hypotonia, developmental delay, microcephaly,...
- The National Institute of Neurological Disorders and Stroke awarded $439,588 to the University of North Carolina at Chapel Hill on June 22, 2026, under the Extramural Research Programs in the Neurosciences and Neurological Disorders program (CFDA 93.853) to develop gene therapy approaches for cerebellar CACNA1A disorders. The award funds research into helper-dependent adenoviral vector (HDAD) delivery systems to treat CACNA1A-related cerebellar disorders, which cause severe movement problems,...
The National Institute of Child Health and Human Development awarded Duke University $593,848 on September 1, 2026, under the Child Health and Human Development Extramural Research program (CFDA 93.865) to develop therapeutic approaches for glutaric aciduria type I (GA-1), an autosomal recessive metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH). The funded research builds on prior demonstration that murine GA-1 models can be rescued through liver-directed gene replacement therapy or hepatocyte transplantation, and that restoring normal lysine catabolism in the liver prevents the neurological phenotype in GCDH-deficient mice. The project will investigate whether restoring normal lysine metabolism in the liver reduces accumulation of GA-1 catabolites in the brain and kidney and alleviates clinical symptoms of the disease. Currently, the only available treatment for GA-1 patients is strict dietary lysine restriction with carnitine supplementation and symptomatic emergency management. GA-1 presents clinically with progressive macrocephaly, subdural hemorrhages, acute dystonia, complex movement disorders from striatal degeneration, and late-stage kidney failure, resulting in high morbidity and mortality. The proposed work aims to develop the first targeted therapy for GA-1 by understanding the disease's pathophysiology more completely. Performance of work takes place at Duke University in Durham, North Carolina. The period of performance extends from September 1, 2026, through August 31, 2028. This is a project grant, a form of assistance funding.
Mod # | Description | ReasonForModification | Federal Obligation | Date |
|---|---|---|---|---|
| Not listed | $0 | 8/28/26 | ||
| Not listed | $593.8k | 8/24/26 |