At the first ASMD Workshop, medical professionals and researchers from across Europe came together to discuss current findings on Acid Sphingomyelinase Deficiency (ASMD). The event, hosted by the German NPSHG, focused on the neurological and psychiatric aspects of the disease – especially in type A and intermediate A/B forms.

Dr. Laila Arash-Kaps, Dr. Latha Mani (SphinCS, Hochheim), and Dr. Aimee Donald (University of Manchester) reported on severe neurovisceral cases of ASMD type A – a rare, early-onset, and rapidly progressing condition.

Dr. Eugen Mengel (SphinCS, Hochheim) shared insights on intermediate type A/B presentations, with challenges related to development, cognition, and psychiatric symptoms.

Dr. Anja Köhn (University Medical Center Hamburg-Eppendorf) and Prof. Dr. Jürgen Deckert (University Medical Center Würzburg) presented cases of patients who initially showed only mild neurological symptoms but later developed anxiety or psychotic disorders.

The research section offered promising perspectives:

Dr. María Dolores Ledesma (Centre of Molecular Biology, Madrid) presented data on neuroinflammation and molecular therapeutic targets.

Prof. Dr. Christoph Arenz (Humboldt University Berlin) discussed new tools to characterize acid sphingomyelinase (ASM).

Dr. Sabina Tahirovic (DZNE Munich) focused on microglia and their possible role in ASMD-related neurodegeneration, drawing parallels to Niemann-Pick type C.

Conclusion: Neurological and psychiatric symptoms in ASMD are more varied than previously thought. The workshop emphasized the high unmet need for targeted diagnostics and treatment.

Our sincere thanks to the NPSHG for organizing this valuable exchange.