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NIH Grants & Funding for Inborn Errors of Metabolism | Kisho | Kisho

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Inborn Errors of Metabolism — NIH Grants & Funding

Active and recent NIH-funded research on Inborn Errors of Metabolism. Data from NIH RePORTER, last 36 months.

MONDO:0019052

NIH-funded research on Inborn Errors of Metabolism

active grants

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$67.7M in NIH funding over the last 36 months. Data from NIH RePORTER.

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Basic Science(13)

Basic ScienceZIACompleted

Investigations of Methylmalonic Acidemia and Related Disorders

Venditti, Charles·NATIONAL HUMAN GENOME RESEARCH INSTITUTE

$3,378,385 (FY2025)

Inborn Errors of Metabolism — NIH Grants & Funding

Basic Science(13)

Investigations of Methylmalonic Acidemia and Related Disorders

Metabolism, infection and immunity in inborn errors of mitochondrial metabolism

Basic and Translational Studies of Inborn Errors of Metabolism

C. elegans models of metabolism in health and disease

Pathobiological mechanisms of cardiac disease in PGM1-CDG

Multiplex gene sequencing and metabolomics analysis from newborn dried blood spots to improve screening and diagnosis of metabolic disorders.

Genetic analyses of molybdenum cofactor biology

Defining the role of phosphatidic acid as an allosteric regulator of mitochondrial glutaminase

Osteoclast Dysfunction in Lysinuric Protein Intolerance (LPI)

Investigating PHGDH deficiency inborn error metabolism in vitro and in vivo using gene regulation and metabolic tracing approaches

Translational(9)

Proof-of-concept for the use of enzyme replacement therapy as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndrome

A phase 2 study of a vitamin metabolite for PKAN

Oral Therapeutics Platform for Treating Inborn Errors of Amino Acid Metabolism

Investigating the Genetic Landscape of Cerebral Palsy

Mechanisms and Therapies for Cerebellar Development Under Defective Mitochondrial Metabolism

Advancing a novel experimental mRNA-based therapy for Classic Galactosemia

Developing Synthetic Enzymes to Treat Inborn Errors of Metabolism

Identifying New Therapeutics and Molecular Mechanisms in Congenital Disorders of Glycosylation.

A novel treatment option for disorders of propionate metabolism

Clinical(4)

Hyperphenylalaninemia Disorders Consortium of the Rare Disease Clinical Research Network

Clinical Investigations of Inborn Errors of Metabolism

Characterizing the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS): a fundamental step in the development of a targeted cure for this novel atypical sphingolipidosis

Preventing speech and language disorders in infants with classic galactosemia

Epi / Nat. History(3)

Rare Organic Acidemias Research (ROAR) Consortium

Oldies but Goodies: Rescuing confined OTC and NAGS genetic variant data from legacy databases and natural history studies

Frontiers in Congenital Disorders of Glycosylation

Gene/Cell Therapy(4)

Personalized prime editing as a platform for hepatic inborn errors of metabolism

Optimal Window of Opportunity for Granulosa Cell Gene Therapy in Galactosemia

Replication study of in vivo postnatal gene editing for metabolic liver disease in the nonhuman primate model

Lifelong Correction of Hereditary Tyrosinemia Type 1 and Other Monogenic Liver Diseases using Liver-specific Hydrodynamic Gene Delivery through the Biliary System

Biomarker / Dx(2)

Identifying New Therapeutics and Molecular Mechanisms in Congenital Disorders of Glycosylation.

Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders not Amenable to Current Screening

Medical Device(3)

MyRareDiet: A Diet Tracking, Monitoring and Optimization mHealth Solution for Patients with Inborn Errors of Metabolism

Development of a Urine Test for At-Home Monitoring of Blood Phe Levels for PKU

PKU Now-Connect: An intelligent digital ecosystem to improve health outcomes in Phenylketonuria

Other(1)

Expert curation of sequence variants in the proximal urea cycle genes