Table 4.
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.