Our aim is to characterize ASMD patients* breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes, fibrotic processes or sphingolipid…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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.
Secondary outcome
Not applicable
Background summary
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease in which
sphingomyelin accumulates due to a deficiency of the enzyme acid
sphingomyelinase. The most common manifestations of the disease are
hepatosplenomegaly and interstitial lung disease (ILD). Currently, enzyme
replacement therapy is under investigation and will likely become available in
the near future. The first results indicate that pulmonary involvement may be
responsive to treatment. In order to identify those patients that will
potentially benefit from therapy, biomarkers for lung injury can be helpful.
Compounds measured in exhaled breath and exhaled breath condensate are
extensively studied in common lung diseases and increasingly in ILD. These
compounds are of interest since they provide information directly form the lung
compartment and are collected non-invasively.
Study objective
Our aim is to characterize ASMD patients* breath profile, exhaled breath and
condensate as compared to healthy controls to identify specific volatile and
non-volatile compounds that reflect inflammatory processes, fibrotic processes
or sphingolipid accumulation in the lungs.
Study design
This study comprises a cross-sectional case-control part and a prospective
cohort part. In the cross-sectional part, exhaled breath samples with volatile
and non-volatile compounds of ASMD patients and healthy controls will be
collected. After potential biomarkers are identified in the cross-sectional
part, patients will enter the longitudinal part in which the prognostic and
monitoring value of these markers will be evaluated using clinical parameters.
Study burden and risks
Sampling of exhaled breath yields no risk: at most, patients might suffer from
dizziness or mild dyspnea. Patients will not directly benefit from
participation in the study. We aim to identify biomarkers reflecting lung
involvement of ASMD and in that respect the results of the study may improve
clinical care in the future for the patients participating in the study or any
ASMD patient with similar characteristics.
Meibergdreef 9
Amsterdam 1105 AZ
NL
Meibergdreef 9
Amsterdam 1105 AZ
NL
Listed location countries
Age
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
Patients:
- Inability to adhere to the study protocol
Healthy subjects:
- Medical history of pulmonary disease
- Inability to adhere to the study protocol
Design
Recruitment
Kamer G4-214
Postbus 22660
1100 DD Amsterdam
020 566 7389
mecamc@amsterdamumc.nl
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL75323.018.20 |