Changing the Course of Metabolic Disease: Advances in Bone Marrow Transplantation

by | Jul 7, 2026 | Webinars

Changing the Course of Metabolic Disease: Advances in Bone Marrow Transplantation

This webinar will be on October 13, 2026 (16:00 CET)

Registration

Hematopoietic stem cell transplantation (HSCT) has significantly improved outcomes for selected inherited metabolic diseases, particularly those in which donor-derived cells can provide effective enzyme replacement, such as mucopolysaccharidosis type I, metachromatic leukodystrophy, and cerebral adrenoleukodystrophy. Over the past decades, collaborative efforts have refined transplant strategies, leading to better survival and engraftment through optimized conditioning and supportive care, including targeted busulfan exposure.

The field is now entering a new phase. Newborn screening enables treatment at a much earlier stage—often in infancy—when disease burden is still limited, but pharmacokinetic variability and vulnerability to toxicity are greatest. This has driven the adoption of precision approaches such as model-based dosing of conditioning agents (busulfan, fludarabine, and anti-thymocyte globulin), aiming to balance efficacy and safety in this uniquely sensitive population. In parallel, autologous gene therapy is emerging as a complementary strategy in some indications, offering high enzyme expression while raising new questions regarding long-term durability and tissue-specific correction.

Despite these advances, HSCT does not fully prevent disease progression in all organ systems. Ultra-long-term follow-up demonstrates persistent disease burden affecting, among others, neurocognition, skeletal development, and quality of life. Understanding these limitations, and the factors that determine outcomes, is essential to further refine treatment strategies.

In this webinar, we will discuss three key themes: (1) advances in HSCT that have improved outcomes in metabolic disease, (2) the impact of early treatment and precision dosing, particularly in infants, and (3) how HSCT and gene therapy can be positioned together to further modify disease trajectories.

Together, these developments reflect a shift toward earlier, safer, and more individualized treatment, aiming not only to extend survival, but to improve long-term function and participation in daily life.

Speakers:

·Dr. Caroline Lindemans, Pediatrician-immunologist, pediatric bone narrow transplantation at University Medical Centre Utrecht.


·Dr. Peter van Hasselt, Pediatrician-metabolic diseases specialist at University Medical Centre Utrecht.

Learning outcomes: after attending the webinar participants will be able to: 

  • Identify appropriate candidates and timing for HSCT in metabolic disease.

  • Explain how advances in conditioning and supportive care improve outcomes.

  • Compare HSCT and gene therapy in terms of indications and limitations.

  • Recognize the importance of long-term follow-up and the need to collaborate with specialized programs.