Niemann-Pick Disease (acid sphingomyelinase deficiency)
Conditions
Interventions
Group 1: retrospective data collection of patient characteristics and survival
Sponsors
Sanofi Genzyme
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: I 01. Pediatric, adolescent and adult ASMD (surviving and deceased) patients with retrievable information from German hospital medical records between January 1st 1990 and July 31st 2021. I 02. A first date of evidence of ASMD defined as either first symptom onset or a diagnosis of ASMD Type B or A/B, whichever comes first. This first date of evidence of ASMD to be defined as the index date. I 03. Patient and/or patient’s parent/legal guardian must provide informed assent/consent.
Exclusion criteria
Exclusion criteria: E 01. Patients with no retrievable information from the medical record E 02. Patients with ASMD type A
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Estimation of the cumulative survival probability of patients with ASMD type B (historically known as Niemann-Pick disease type B or also as chronic visceral ASMD) in childhood, adolescence and adulthood | — |
Secondary
| Measure | Time frame |
|---|---|
| - Description of the characteristics of patients with ASMD type B and type A / B (chronic visceral and chronic neurovisceral) Exploratory goals: - Description of the survival of patients with ASMD type A / B (chronic neurovisceral) - Assessment of the relationship between spleen volume, liver function, lipid profile, lung function and mortality in patients with ASMD type B and type A / B - Assessment of the relationship between spleen volume, liver volume, liver function tests, lipid profile and pulmonary function tests with regard to complications or hospitalization. | — |
Countries
Germany
Contacts
Public ContactBenno Antoni
Contract Research Organization, IQVIA Commercial GmbH & Co. OHG
Outcome results
None listed