Stem Cell Therapy in Lysosomal Storage Diseases

Jaap J. Boelens (1970) is a paediatrician – oncologist. Medicine (Utrecht 1996), PhD in Amsterdam (UVA; 1999), trained as a paediatrician in Leiden/Den Haag (2004) followed by completion of clinical fellowship in immunology (2006; Utrecht) and oncology (2011; Rotterdam). His clinical sub-specialization is Hematopoietic Cell Transplantation (HCT) and he works as a consultant in HCT at the UMC Utrecht since 2006. He has a special interest in rare-diseases (as indication for HCT) in particular “lysosomal storage diseases” and finding strategies to get better disease control (in malignant diseases). In close collaboration with dr Rob Wynn, the EBMT, EUROCORD and the CIBMTR he was PI of various international studies on the outcomes of HCT in “lysosomal storage diseases.” These studies has let to better international collaboration, guidelines and improved survival. He aims to further improve the outcomes of cellular-therapy for this group of patients, within the international network, especially focusing on the “residual disease burden,” which is present in almost all patients. Dr. Robert Wynn is currently Consultant Pediatric Hematologist and Director of the Blood and Marrow Transplant Unit at the Royal Manchester Children's Hospital. He qualified in Medicine from Cambridge University and undertook further Medical, Pediatric and Hematology training in Cardiff, Manchester and Toronto. He is a both a member of the Royal College of Physicians and a fellow of the Royal College of Pathologists. He looks after children with malignant and non malignant blood disorders as a laboratory and a clinical hematologist.       Dr. Wynn's clinical and research focus is in metabolic disease transplant and was stimulated by Ed Wraith and his team at the Willink Unit at Royal Manchester Children's Hospital with its huge interest in lysosomal storage diseases and in which more transplants have been performed for these conditionsthan in any other European medical center.

• 1. Lysosomal Diseases and Therapeutic Options: An Overview.- 2. Alternative Treatment Options: Enzyme Replacement and Small Molecule Therapies.- 3. Hematopoietic Cell Transplantation in Inborn Errors of Metabolism.- 4. Allogeneic Hematopoietic Stem Cell Transplantation in Lysosomal Storage Disorders: Long Term Neurodevelopmental and Somatic Outcome.- 5. Hematopoietic Stem Cell Gene Therapy for Lysosomal Storage Disorders: Expected Benefits and Limitations.- 6. Alternative Future Therapies for Lysosomal Storage Diseases: Embryonic Stem Cell- and Induced Pluripotent Stem Cell Therapy.- 7. New Directions and Conclusions.