Dr. Neal Sondheimer completed his MD and PhD in Molecular Genetics at The University of Chicago. He completed his residencies in paediatrics, medical genetics and metabolics at The Children’s Hospital of Philadelphia. He has previously served as a staff metabolic physician at The Children’s Hospital of Philadelphia and SickKids Hospital in Toronto. He is currently the Medical Director of Newborn Screening Ontario.
Dr. Sondheimer’s research activities focus on three areas: (i) the impact of mitochondrial DNA variants in rare and common disease; (ii) clinical trials of novel therapeutics for rare disease and (iii) newborn screening and management of inherited metabolic disease.
Research Projects
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Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
03/04/2024
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The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers
13/03/2024
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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
13/01/2024
To improve care and long-term outcomes for children with MCAD deficiency, rigorous approaches to evaluation of treatments are needed, informed by reliable, sustainable, and longitudinal measurement of clinically meaningful and patient-centred outcomes [12, 13]. A core outcome set (COS) is a small group of priority outcomes agreed upon by stakeholders interested in a specific health condition with the goal of encouraging the standardized measurement and reporting of endpoints measured during clinical trials for that condition [14, 15]. The development and implementation of COSs can support the synthesis of evidence and the comparison of findings across clinical trials where appropriate. These outcomes can also be collected as part of a high-quality disease registry to establish robust observational data over time and to facilitate registry-based randomized trials, where a trial is implemented in a registry platform that incorporates rigorous outcome measurement [16]. There is a particular need for multi-centre and international collaboration in rare disease settings, given the small number of patients in any single centre. A COS can facilitate such collaboration in rare disease research as part of the harmonization of data on long-term outcomes and treatment effectiveness in small populations, thereby increasing the robustness of data pooling and thus improving the quality of evidence.