Zarazuela Zolkipli-Cunningham, MBChB, MRCP

faculty photo
Assistant Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Attending Physician, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia
Faculty, Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
Clinical Research Director, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia
Penn Medical Faculty Senate Steering Committee , University of Pennsylvania
Department: Pediatrics

Contact information
12th Floor, The Hub Building,
Children's Hospital of Philadelphia
3501 Civic Center Boulevard
Philadelphia, PA 19104
Office: 2674264961
Education:
MBChB
Edinburgh University Medical School, Scotland, UK, 1996.
MRCPCH
Royal College of Physicians, Edinburgh, Scotland, 1999.
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Description of Clinical Expertise

Mitochondrial Myopathy diagnosis and management
Percutaneous Muscle Needle Biopsy
Mitochondrial Disease
Mitochondrial Dysfunction
Neuromuscular

Description of Research Expertise

Mitochondrial Myopathy outcome measures
Mitochondrial Myopathy exercise testing
Mitochondrial Myopathy clinical trials
Neuromuscular
Myopathy
Mitochondria
Exercise
Spinal Muscular Atrophy
Nanosensor
Muscle Oxygen
Leigh syndrome
Longitudinal Studies

Selected Publications

Coratti G, Bovis F, Pane M, Emilio AP, Mizzoni AI, Glanzman AM, Simone Morando, Montes J, Cavallina I, Young SD, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Pera MC, Messina S, D’Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel R, Mercuri E, the ISMAC/international SMA consortium: Longitudinal Assessment of 4 Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen. European Journal of Neurology 32(7): e70268, Jul 2025.

McCormick EM, Peterson JT, Santos JDD, Flickinger J, Xiao R, Haas R, Zolkipli-Cunningham Z*.: The profound implications of Mitochondrial Myopathy on activities of daily living: An observational qualitative study of standardized structured and semi-structured patient interviews. Therapeutic Advances in Chronic Disease July 2025 Notes: https://doi.org/10.1177/20406223251344763. Supported by 2024-2029 NIH/NIAMS R01.

Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Young SD, Tina Duong T, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, Messina ADS, Bruno C, Mercuri E, De Vivo DC, Darras BT.: Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in untreated and nusinersen-treated patient cohorts. Neurology 105(2): e213839, July 2025 Notes: doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27.

Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Emilio Albamonte, Irene Mizzon, Allan M Glanzman, Simone Morando, Jacqueline Montes, Ilaria Cavallina, Sally Dunaway Young, Tina Duong,Enrica Rolle, Matthew Civitello, Roberto De Sanctis, Chiara Bravetti, Federica Ricci, Giulio Gadaleta, Tiziana Mongini, Maria Sframeli, Maria Carmela Pera, Sonia Messina, Adele D’Amico, Michela Catteruccia, Noemi Brolatti, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, John Day, Valeria A Sansone, Richard Finkel, Eugenio Mercuri the ISMAC/international SMA consortium.: Longitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen. European Journal of Neurology 32(7): e70268, Jul 2025 Notes: doi: 10.1111/ene.70268.

Wang J*, Peterson J, Santos SD, Chan ADJ, Diaz-Miranda MA, Rahaman I, Flickinger J, Goldstein A, Bogush E, McCormick EM, Muraresku CC, Anderson VE, Dulik M, Wallace DC, Xiao R, Falk MJ, Viaene AN, Zolkipli-Cunningham Z*: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology(6), April 2025 Notes: https://doi.org/10.3389/fphar.2025.1507493. Supported by 2024-2029 NIH/NIAMS R01.

Chen CX, Venkatesh V, Ogiso A, Zolkipli-Cunningham Z, Falk MJ, Anderson VE, Allen MG: A Miniaturized Enzymatic Lactate Sensor with Expanded Linear Range of Response for Continuous Monitoring in Hypoxic Environments. In Preparation for submission 2025.

Kose M, McCormick E, Muraresku C, Peterson J, Zolkipli-Cunningham Z, Falk M : Characterizing Mitochondrial Dysfunction. In Preparation for submission 2025.

Martin I, Rahaman I, Sarna T, Ginelli N, Ballance EB, McBride M, Xiao R, Flickinger J, Zolkipli-Cunningham Z*. : A Meta-Analysis of Efficacy of Distinct Exercise Protocols and Assessment of Feasibility in Pediatric and Adult Patients with Mitochondrial Disease. Under review 2025 Notes: Supported by 2024-2029 NIH/NIAMS R01.

Sultan LR, Morgan T, McGinn DE, Ischiropoulos H, Nadkarni V, Falk MJ, Brenan E, Gendler L, Darge K, Adams JA, Zolkipli-Cunningham Z*: Dynamic contrast-enhanced ultrasound for muscle perfusion assessment in primary mitochondrial disease: feasibility and preliminary experience. In Preparation for submission. *Communicating author (eds.). 2025.

Zolkipli-Cunningham Z, Goldstein AC, Flickinger J, Stanley K, MacMullen L, George-Sankoh I, Falk MJ: Symptom characterization of primary mitochondrial myopathy. In Preparation for submission 2025.

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Last updated: 09/19/2025
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