Dr Albina Tummolo, Children Hospital Giovanni XXIII, Italy
Dr. Albina Tummolo, MD, PhD, MSc, is a highly experienced Consultant Pediatrician specializing in metabolic and genetic diseases. Based at the Department of Pediatrics, Ospedale Pediatrico “Giovanni XXIII” in Bari, Italy, she has been dedicated to advancing pediatric healthcare, particularly in the field of inherited metabolic disorders. With over two decades of clinical experience, Dr. Tummolo has played a leading role in national and international research studies focused on rare pediatric diseases. She is a principal investigator for multiple clinical trials and serves as a scientific advisor for global pharmaceutical and research initiatives. Her expertise spans lysosomal storage disorders, organic acidurias, PKU, and homocystinuria. Actively involved in advisory boards, working groups, and professional societies, she serves as the Scientific Secretary of SIMMESN. Dr. Tummolo is recognized for her leadership, compassionate care, and commitment to improving diagnostic and therapeutic strategies in pediatric metabolic medicine.
Publication Profile
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Education
Dr. Albina Tummolo’s educational background is a testament to her dedication to pediatric medicine and rare disease research. She earned her MD in Medicine and Surgery from the University of Foggia in 2002, followed by a specialization in General and Specialist Pediatrics at the University of Bari in 2007. Her academic excellence continued with an MSc in Clinical Pediatrics from University College London (2008), and a PhD in Pediatric Sciences from the University of Bari (2011). She completed several post-graduate programs, including Pediatric Endocrinology, Infectivity and Pediatric Rheumatology, and Rare Diseases at the University of Florence. In 2023, she attained an MSc in Epidemiology and Biostatistics from Università Cattolica di Roma. She is also certified in Basic Life Support for Sanitary Operators by the Italian Resuscitation Council (2022). Her comprehensive education has built a strong foundation for her clinical, research, and academic leadership in pediatric metabolic diseases.
Experience
Dr. Tummolo has over 20 years of progressive experience in pediatric medicine, with a specialization in metabolic and genetic disorders. Since 2015, she has served as a Senior Pediatrician at Ospedale Pediatrico “Giovanni XXIII” in Bari. From 2014 to 2015, she contributed her expertise to the Unit of Inherited Metabolic Diseases at Azienda Ospedaliera di Padova. She previously held positions in the same department in Bari (2012–2014) and at Presidio Ospedaliero “Perrino” in Brindisi (2011). Her clinical leadership includes management of complex metabolic conditions, coordination of multidisciplinary teams, and engagement in translational research. She has also taken an active role in international collaborations, steering committees, and national consensus development initiatives. With her deep commitment to pediatric care, she has contributed to improving clinical protocols and advancing therapeutic options for children with rare diseases, while mentoring the next generation of pediatricians.
Awards and Honors
While specific award titles are not listed, Dr. Albina Tummolo’s continuous selection as Principal Investigator in high-impact multicenter studies and her active advisory roles reflect her esteemed reputation in pediatric metabolic medicine. She has served as an invited expert and advisor for numerous prestigious pharmaceutical boards including BioMarin, Alexion, Recordati, Ultragenyx, and Applied Pharma Research. Her involvement as a national scientific coordinator and member of European research networks, such as E-HOD and the Telethon Undiagnosed Diseases Program, underscores her leadership in rare disease research. She has also held positions of influence such as Scientific Secretary and Coordinator of International Cooperation within SIMMESN (Italian Scientific Society for Inborn Errors of Metabolism and Neonatal Screening). Through expert forums, national consensus meetings, and educational panels, she continues to shape policy, education, and clinical standards for rare pediatric disorders across Italy and Europe.
Research Focus
Dr. Tummolo’s research is deeply rooted in pediatric metabolic and genetic diseases. Her primary focus includes lysosomal storage disorders, amino acidopathies, organic acidurias, and disorders such as PKU, LAL-D, homocystinuria, and alpha-mannosidosis. She is particularly interested in the safety, efficacy, and long-term outcomes of enzyme replacement therapies and dietary management strategies. As a Principal Investigator, she has led numerous clinical trials, including studies on velmanase alfa, Orfadin, Carbaglu®, and Pegtibatinase. Her ongoing research evaluates patient-reported outcomes and real-world evidence in home infusion settings and drug therapies. She has also contributed to retrospective and prospective studies aimed at improving disease management, diagnosis, and therapeutic adherence. Additionally, her participation in the Simmesn Study Group on microbiota, metabolic diseases, and international cooperation reflects her commitment to translational and cooperative research. Dr. Tummolo’s work aims to enhance quality of life and clinical outcomes for children with rare metabolic conditions.
Publication Top Notes
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📘 An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency – ALX-LALD
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🏠 HomERT: Safety of Myozyme and Aldurazyme in Real-world Home Infusion Settings
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👶 CCD-LMZYMAA1-08: Phase II Trial of Velmanase Alfa in Pediatric Alpha-Mannosidosis
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🧪 OPAL: Long Term Safety Study of Orfadin in Tyrosinemia Type 1
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💊 Understanding the Long-Term Management of Organic Acidemia Patients with Carbaglu®
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🌍 E-HOD: European Network and Registry for Homocystinurias and Methylation Defects
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🧬 TUDP: Telethon Undiagnosed Diseases Program Participation
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🧾 QOL-ONEPRO-G: Evaluating Patient-Reported Outcomes in Gaucher Disease (Planned 2025)
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🧑🔬 Harmony: Phase 3 Clinical Trial of Pegtibatinase in Classical Homocystinuria (Planned 2026)
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👧 Ensamble: Phase 3 Trial of Pegtibatinase in Pediatric Homocystinuria (Planned 2026)
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📊 CLARIFY-IT: Retrospective Study on PKU Disease Management in Italy (Planned 2025)