Matthew M Demczko, MD
Assistant Professor of Clinical Pediatrics (Human Genetics)
Attending Physician, Division of Human Genetics, Mitochondrial Medicine, Children's Hospital of Philadelphia
Director, Mitochondrial Medicine Inpatient Service, Division of Human Genetics, Children's Hospital of Philadelphia
Education and Fellowship Director, Mitochondrial Medicine, Division of Human Genetics, Children's Hospital of Philadelphia
Faculty Member, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
Physician Lead, Armellino Center of Excellence for Williams Syndrome, University of Pennsylvania School of Medicine
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Genetic and Genomic Medicine
3401 Civic Center Blvd.
Philadelphia, PA 19104
Division of Genetic and Genomic Medicine
3401 Civic Center Blvd.
Philadelphia, PA 19104
Publications
Education:
B.A. (Biology and Religious Studies)
Franklin & Marshall College, 2008.
M.D.
Sidney Kimmel Medical College Thomas Jefferson University, 2012.
Permanent linkB.A. (Biology and Religious Studies)
Franklin & Marshall College, 2008.
M.D.
Sidney Kimmel Medical College Thomas Jefferson University, 2012.
Description of Clinical Expertise
Children with Medical ComplexityMitochondrial Disorders
Pediatric Rare Disease
Selected Publications
Alessandra Rocco, Alberto Zambon, Daniele De Ritis, Lorenzo Bianco, Paola M.v. Rancoita, Heidi Toiminen, Febe Vermue, Ilana Berlin, Monica Arroyo, Pasi I. Nevalainen, Matt Demczko, Maria Lucia Cascavilla, Stefano C. Previtali, Francesca Maltecca: Multisystem Neurological Disease Associated with Variants in the AFG3L2 ATPase Domain: Beyond Dominant Optic Atrophy. EuroMit International Meeting of Mitochondrial Pathology, Angers, France. Poster Presentation Jun 2026.Caterina Garone, Andreas Traschütz, Jan Kern, Megan K. Cox, Ilaria Pettenuzzo, Chiara La Morgia, Gaetano Cantalupo, Sara A. Nguyen, Sonal Sharma, Matthew M. Demczko, Andy Ly, Katelynn Stanley, Laura E. MacMullen, Colleen Muraresku, Cassandra Pantano, Elizabeth Ballance, Jean Flickinger, Ibrahim George-Sankoh, Suraj Serai, Bing Nie, Brian Berman, Niven R. Narain, Vijay Modur, Matthias Synofzik, Zarazuela Zolkipli-Cunningham. : Intravenous BPM31510 for Treatment of Pediatric Patients with Primary CoQ10 Deficiency EuroMit International Meeting of Mitochondrial Pathology, Angers, France. Poster Presentation Jun 2026.
MacMullen LE, Stanley KD, Christodoulou J, Cohen BH, Demczko MM, Goldstein AC, Haas R, Koenig MK, Poblete M, Rossman I, Ruiz C, Thorburn DR, Uebergang E, Curtis L, Martin L, Massucci S, Yeske P, Zolkipli-Cunningham Z, Falk MJ, The Leigh Syndrome Roadmap Project Natural History Study Consortium : A Patient Advocacy Group Funded, Expert Led, International Multi-Site Prospective Natural History Study Evaluating the Clinical Presentation and Progression of Leigh Syndrome Spectrum Disorders. EuroMit International Meeting of Mitochondrial Pathology, Angers, France. Poster Presentation Jun 2026.
Erica Cataldi Stagetti, Chiara Diquigiovanni, Arianna Orsini, Giulia Governatori, Francesca Montanari, Matthew Demczko, Murtadha Ali, Roberto De Giorgio, Elena Bonora: Novel patients with biallelic variants in LIG3 expand the clinical phenotype associated to mitochondrial DNA depletion syndrome 20, MNGIE type. IBS Days Annual Meeting, Bologna, Italy. Poster Presentation. Jun 2026.
Stanley KD, MacMullen LE, Tormey C, Demczko M, Goldstein A, Watkins B, Prasun P, and Ganetzky R.: Individual Patient Expanded Access Using Sodium Dichloroacetate for the Treatment of Primary Lactic Acidosis. Society for Inherited Metabolic Disorders Annual Meeting, Puerto Rico. Poster Presentation. May 2026.
Herodes Guzman, Elizabeth McCormick, Laura MacMullen, Ibrahim George-Sankoh, Katelynn Stanley, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Matthew Demczko, Sonal Sharma, Adam Naj, Rui Xiao, Marni Falk, Shana McCormack, Rebecca Ganetzky.: Characterization of Mitochondrial Diabetes Current Management Practices Among a Large Primary Mitochondrial Disease Cohort. Society for Inherited Metabolic Disorders Annual Meeting, Puerto Rico. Poster Presentation. May 2026.
Matt Demczko, Marissa Weis, Sara Nguyen, Laura MacMullen, Amy Goldstein, Zarazuela Zolkipli-Cunningham, Marni J. Falk: A Pilot Phase 2 Study to Assess the Safety and Efficacy of Sirolimus in Pediatric Leigh Syndrome Patients: Interim Analysis. ACMG Annual Clinical Genetics Meeting, Baltimore, MD. Poster Presentation. Mar 2026.
Megan K. Cox, Andreas Traschütz, Jan Kern, Sara A. Nguyen, Sonal Sharma, Matthew M. Demczko, Andy Ly, Laura E. MacMullen, Colleen Muraresku, Cassandra Pantano, Elizabeth Ballance, Jean Flickinger, Ibrahim George-Sankoh, Suraj Serai, Bing Nie, Niven R. Narain, Vijay Modur, Zarazuella Zolkipli Cunningham, Mathias Synofzik1: Initial experience using intravenous BPM31510IV to restore CoQ10 in pediatric patients with genetically confirmed CoQ10 deficiency. American Society of Human Genetics Annual Meeting, Boston, Massachusetts. Poster Presentation Oct 2025.
Daria Fleyshman, Nimisha Khaitan, Caroline Wallendal, Brielle Gehringer, Kristen Kouvel, Matthew Demczko, Jocelyn Krebs, Tom Reynolds: Clinical Outcomes Data Archive (CODA): Possibilities for Williams Syndrome Research. International Conference on Research in Williams Syndrome. Philadelphia, Pennsylvania. Poster Presentation. Sept 2025.
Amy Goldstein, James Peterson, Marissa Weis, Ibrahim George-Sankoh, Laura MacMullen, Cesar Alves, Elizabeth McCormick, Emily Bogush, Colleen Muraresku, Kaushal Prajapati, Riu Xiao, Sonal Sharma, Matthew Demczko, Isabella Peixoto de Barcelos, Zarazuela Zolkipli-Cunningham, Marni J Falk: Retrospective Natural History Study of POLG Disease in a Mitochondrial Medicine Clinical Research Center. International Conference for Inborn Errors of Metabolism, Kyoto, Japan, Poster Presentation Sept 2025.