Study Objective

Guideline development process: AGREE II system and classification

To develop clinical guidelines

Standard of care for ASMD patients
Using an SLR and the experiences of multidisciplinary experts (GDG)

  Experts’ Recommendations for Classification and Diagnosis of ASMD

Acute neurovisceral, ASMD type A
Hepatosplenomegaly, proatherogenic lipid profile, thrombocytopenia, interstitial lung disease, skeletal involvement, liver disease, cherry red macula, hypotonia, and rapidly progressive neurodegeneration

Chronic neurovisceral, ASMD type A/B
All symptoms of ASMD type A along with delayed growth and puberty, slowly progressive neurodegeneration and cherry red macula (in few patients), and hypotonia

Chronic visceral, ASMD type B
All symptoms of type A/B with the absence of hypotonia and neurodegeneration and few patients with cherry red macula

  Experts’ Recommendations for the Management of ASMD

Multidisciplinary assessment is recommended for all ASMD patients or as needed by:

  • Primary care physician
  • Metabolic diseases specialist
  • Neurologist

Management of ASMD

  • All patients with a confirmed diagnosis of ASMD and significant non-CNS
  • Effectiveness of treatment should be monitored

Use of HSCT is experimental

Symptomatic treatment

CLD should be monitored and treated for gastrointestinal bleeding

Pulmonary disease may require long-term oxygen therapy

Recommended assessments for all ASMD patients
Assesment Frequency
Baseline history At diagnosis
Pulmonary assessment
  • Assess recurrent chest infections at diagnosis, then at each visit
  • Chest radiograph and/or high-resolution chest CT to assess the extent of interstitial lung disease at diagnosis regardless of age, then every 2–4 years
Musculoskeletal assessment At diagnosis, then at each visit
Ophthalmologic evaluation At diagnosis

AGREE: Appraisal of guidelines for research and evaluation; ASM: Acid sphingomyelinase; ASMD: Acid sphingomyelinase deficiency; CLD: Chronic liver disease; CNS: Central nervous system; CT: Computed tomography; DBS: Dried blood spot; ERT: Enzyme replacement therapy; GDG: Guidelines Development Group; HSCT: Hematopoietic stem cell transplantation; NP: Natriuretic peptides; SLR: Systematic literature review; SMPD1: Sphingomyelin phosphodiesterase 1 gene; VUS: Variant of uncertain significance.

MAT-BH-2400114-V1-February 2024