acid sphingomyelinase deficiency Niemann-Pick disease
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
12 Years to 64 Years
Inclusion criteria
Inclusion criteria: Patients - biochemical and genetically confirmed diagnosis of ASMD - written informed consent prior to the study-related procedure. - >= 12 years of age Healthy subjects: - written informed consent prior to the study-related procedure - >= 18 years of age
Exclusion criteria
Exclusion criteria: Patients: - Inability to adhere to the study protocol Healthy subjects: - Medical history of pulmonary disease - Inability to adhere to the study protocol
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Inflammatory markers, fibrotic markers and markers of sphingolipid accumulation will be measured in exhaled breath. Breath profiles will be measured with eNose, volatile compounds will be measured with GC-MS and non-volatile compounds will be measured in exhaled breath condensates using UPLC-MS/MS. | — |
Countries
Netherlands
Outcome results
None listed