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. 2022 Feb 10;11(4):920. doi: 10.3390/jcm11040920

Table 4.

Patients with chronic ASMD grouped among disease severity (CETLv classification).

Group Definition
Group outside the early access spectrum application ASMD types B and A/B (NPD B or A/B) with a short-term vital prognosis (e.g., cancer)
Group 1: Patients with severe organ involvement DLco a <50% and/ or dyspnoea
Platelets <50 G/L ± recurrent bleeding or bruising
Abdominal pain
Urgent need to start treatment
Break in growth curve (≥2 standard deviation)
Group 2: Patients in therapeutic trials Patient continues to receive treatment as part of clinical trial or extension study
Group 3: Patients with moderate organ involvement 50% < DLco < 70%
50 G/L < Platelets < 100 G/L without bleeding or bruising
Failure to thrive/break in growth curve (>1 standard deviation)
Group 4: Patients with mild organ involvement DLco > 70%
Platelets > 100 G/L
Abnormal thoracic imagery and/or hepatosplenomegaly
Group 5: Patients with no symptoms DLCO > 70%
Platelets > 100 G/L
No symptom
Normal thoracic imagery
No hepato-splenomegaly

ASMD, acid sphingomyelinase deficiency; DLco, diffusing capacity of the lungs for carbon monoxide; NPD, Niemann–Pick disease. a DLco not available for patients aged <6 years old.