Biomarkers Of Lung InVolvement In ASMD

Completed

• Conditions: acid sphingomyelinase deficiency; Niemann-Pick disease; 10027424

• Registration Number: NL-OMON54323
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 68

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

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Inflammatory markers, fibrotic markers and markers of sphingolipid accumulation<br /><br>will be measured in exhaled breath. Breath profiles will be measured with<br /><br>eNose, volatile compounds will be measured with GC-MS and non-volatile<br /><br>compounds will be measured in exhaled breath condensates using UPLC-MS/MS.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Not applicable</p><br>