This Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), aims to develop specialized cryo-electron microscopy (cryo-EM) techniques to study the structures of mitochondrial complexes implicated in muscular myopathies. The $444,109 award to the Scripps Research Institute in La Jolla, CA will support the creation of methods to directly visualize...
This federal Project Grant award from the National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), provides $178,000 to The Children's Hospital of Philadelphia (CHOP) to design and validate a severity scale for Pelizaeus Merzbacher disease (PMD), a rare genetic disorder affecting myelin production. The award will support the development of an empirically-derived PMD severity scale with face and...
The Children's Hospital of Philadelphia was awarded a $23.7 million Project Grant from the Department of the Army Medical Command under the Military Medical Research and Development federal grant program. The grant will support the development and clinical validation of noninvasive diagnostics for mitochondrial disease from 2022 through 2026. Through this funding, the awardee will work to transform healthcare for service members and the public by investigating medical solutions for the...
This federal Project Grant award for $596,783 from the National Institute of Neurological Disorders and Stroke (NINDS) Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) will fund research at Washington University to develop novel therapeutic strategies for treating Leigh syndrome, a fatal inherited mitochondrial disease. The two-fold aims are: 1) to determine how administering exogenous (external) mitochondria can improve the morbidity and mortality of...
This Project Grant award from the National Institute of Mental Health (NIMH) under the Mental Health Research Grants (CFDA 93.242) program provides $1,854,632 to The Children's Hospital of Philadelphia (CHOP) from July 2024 to January 2027. The project aims to study the role of mitochondrial function and synaptic activity in the development of schizophrenia, with a focus on iPSC-derived neurons from individuals with 22q11.2 deletion syndrome, a major genetic risk factor for schizophrenia. The...
The Children's Hospital of Philadelphia will receive $3.52 million under a four-year Project Grant from the Department of the Army Medical Command. The grant will support the ANT1 Gene Therapy for the Treatment of Mitochondrial Disease project from July 2022 through June 2026.
The project aims to develop a gene therapy for mitochondrial diseases, which are genetic disorders caused by dysfunctional mitochondria. The Children's Hospital of Philadelphia Research Institute will investigate using...
This Project Grant award from the National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), supports the development of the first murine animal model and adeno-associated virus (AAV)-based gene therapy for mitochondrial ATP6 (mtatp6) diseases. The $498,000 award, valid from August 1, 2024 to June 30, 2027, aims to create a novel mitochondria-targeting base editing technology to generate a truncated...
The Children's Hospital of Philadelphia will receive $3.52 million under a four-year Project Grant from the Department of the Army Medical Command. The grant will support the ANT1 Gene Therapy for the Treatment of Mitochondrial Disease project from July 2022 through June 2026.
The project aims to develop a gene therapy for mitochondrial diseases, which are genetic disorders caused by dysfunctional mitochondria. The Children's Hospital of Philadelphia Research Institute will investigate using...
This Project Grant award from the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) aims to develop a new therapy for neurodevelopmental mitochondrial disorders. The $105,625 award, with a period of performance from August 1, 2024 to July 31, 2026, will support research to: 1) analyze how a specific succinyl-CoA precursor is metabolized in a mouse model of pyruvate dehydrogenase...
This Project Grant award from the National Institutes of Health under the Research Infrastructure Programs (CFDA 93.351) provides $198,750.00 to the University of Texas at Austin to establish conditional animal models of mitochondrial DNA (mtDNA) disease using zebrafish. The project aims to develop a novel CRISPR-based system to enable precise edits to the mitochondrial genome, allowing for temporal and spatial control of mtDNA variations. This will enable the creation of the first...
This $662,241 Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846) will support research to address the lack of validated outcome measures and natural history data for mitochondrial myopathy (MM), a subset of primary mitochondrial diseases.
The Children's Hospital of Philadelphia (CHOP) Mitochondrial Medicine Frontier Program will conduct this 5-year study. The key objectives are to: 1) obtain longitudinal data on two validated MM assessment tools - the MM Composite Assessment Tool (MM-COAST) and MM Function Scale - to define their minimum clinically important differences; 2) validate a remote version of the MM Function Scale; and 3) refine and validate the MM-Impact patient-reported outcome measure. This research will transform future MM clinical trial design by providing critical endpoints and natural history data to advance therapeutic development for this rare, debilitating neuromuscular disorder.