Prof. C.E.M. Hollak PhD

Full Professor
Main activities
Patient care, Research, Other
Inherited Metabolic Diseases
Focus of research

Natural history, pathophysiology and treatment of lysosomal storage disorders

Key publications
  • Schuller Yvonne, Arends Maarten, Körver Simon, Langeveld Mirjam, Hollak Carla E. M. Adaptive pathway development for Fabry disease: a clinical approach Drug discovery today 2018;23 (6):1251-1257 [PubMed]
  • Arends Maarten, Wanner Christoph, Hughes Derralynn, Mehta Atul, Oder Daniel, Watkinson Oliver T., Elliott Perry M., Linthorst Gabor E., Wijburg Frits A., Biegstraaten Marieke, Hollak Carla E. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study Journal of the American Society of Nephrology 2017;28 (5):1631-1641 [PubMed]
  • Regenboog Martine, van Kuilenburg André B. P., Verheij Joanne, Swinkels Dorine W., Hollak Carla E. M. Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications Blood reviews 2016;30 (6):431-437 [PubMed]
  • Clarke Lorne A., Hollak Carla E. M. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders Best practice & research. Clinical endocrinology & metabolism 2015;29 (2):219-235 [PubMed]
  • Hollak Carla E. M., Biegstraaten Marieke, Levi Marcel, Hagendijk Rob Post-authorisation assessment of orphan drugs Lancet 2015;386 (10007):1940-1941 [PubMed]
All Publications
Curriculum Vitae

Carla Hollak is Professor of Internal Medicine, Inborn Errors of Metabolism in Adults, at the University of Amsterdam, Division of Endocrinology and Metabolism at the Academic Medical Center (AMC). Hollak combined her PhD studies with her residency in internal medicine and completed her specialization as an internist in 1996. In the same year she obtained her PhD degree at the University of Amsterdam. The title of her thesis is: “Gaucher disease: clinical and laboratory studies in relation to enzyme supplementation therapy”. She is involved in many studies on novel drug treatments for lysosomal storage disorders as well as studies on the pathophysiology, follow-up and monitoring of sphingolipidoses. She is co-founder of SPHINX, the Amsterdam Lysosome Center, which reflects the interaction between clinical, laboratory and imaging disciplines at the AMC. Currently, she heads the adult inherited metabolic unit at the AMC including the centers of excellence for Gaucher and Fabry disease and a rapidly growing service for adults with inborn errors of metabolism. Hollak acts repeatedly as expert for regulatory agencies both at a national and international level. She chairs the board of the "Erfocentrum", is member of the Insured Package Advisory Committee (ACP, Zorginstituut) and chairs the Horizonscan working group Endocrinology and Metabolism. Internationally, Hollak is board member of the European Study Group on Lysosomal Diseases, member of the European Working Group on Gaucher Disease and the Adult Metabolic Group at the Society for the Study of Inborn Errors of Metabolism (SSIEM). She is section editor for the Orphanet Journal of Rare Diseases and communicating editor for the Journal of Inherited Metabolic Diseases.In 2010 she received the Alan Gordon Memorial Award for international support to Gaucher patients during shortage of enzyme and in 2018 she received the ZonMW "Pearl" for Fabry research. Hollak is increasingly involved in discussions and projects on rare disease registries as well as accessibility and costs of orphan drugs, including initiation of magistral preparation of medicines.  

Research programmes

Prof. C.E.M. Hollak PhD (Natural history, pathophysiology and treatment of lysosomal storage disorders and regulatory science of orphan drugs)

Treatment, follow-up and pathophysiology of lysosomal storage disorders. With the launch in 2008 of Sphinx, the Amsterdam Lysosome Center, the Amsterdam University Medical Centers, location AMC has formally established its position as expert center, integrating research and care in the interest of patients with lysosomal storage disorders. Within the department of Internal Medicine, division of Endocrinology and Metabolism, the main focus is on multidisciplinary research, education and patient care in Gaucher disease, Fabry disease, Niemann Pick disease type B, Lysosomal Acid Lipase deficiency, Morquio disease and mucopolysaccharidosis type I, specifically:
- Diagnosis and screening

- Natural history

- Pathophysiology and imaging of complications in Gaucher and Niemann Pick disease

- Pathophysiology and imaging of vascular disease in Fabry disease

- Treatment with enzyme replacement therapy and small molecules (substrate inhibitors, chaperones)

- Monitoring of treatment effects with focus on imaging and biochemical biomarkers

Because of the high costs and lack of knowledge on long term effects of therapies for lysosomal disorders, the necessity for independent research as well as appriopriate use of medicines has grown. This notion has led to the development of a new branch of research, i.e. regulatory science for orphan drugs. This area focusses on:
- Independent rare disease registries
- Health Technology Assessment studies
- Improved post-marketing effectiveness of orphan drugs
- Adressing regulatory issues to improve access, appropriate use and affordability of orphan drugs

M. Langeveld MD PhD

M.R. Datema MSc
L. van Dussen PhD

B.M. Ensing-van de Laak
S. Klein-van Loon
D. van den Berg
A.H.M. Veerhuis

Current research funding
  • AMC (Vrijgesteld)
  • Idorsia Pharmaceuticals Ltd.
  • Nederlandse Internisten Vereniging
  • Sanofi - Aventis Netherlands BV
  • Stichting AMC Foundation
  • Stichting AMC Foundation (Vrijgesteld)
  • Stichting Pharmagister
  • Zorginstituut Nederland