A pilot study to explore plasma abnormalities as possible biomarkers in patients with acid sphingomyelinase deficiency (ASMD)

Recruiting

• Conditions: acid sphingomyelinase deficiency (ASMD); Niemann Pick disease type B; 10027424; 10021605

• Registration Number: NL-OMON43166
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 10

Inclusion Criteria

1. The patient is willing and able to provide signed informed consent prior to study-related procedures.
2. The patient is *18 years of age.
3. The patient has been diagnosed with ASMD.

Exclusion Criteria

Unwillingness to participate

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>Presence and changes in plasma abnormalities regarding sphingolipid<br /><br>metabolites, macrophage/inflammatory markers, markers of lung involvement,<br /><br>lipid profiles and oxysterols in treated and untreated ASMD patients during a<br /><br>period of 24 months. </p><br>

Secondary Outcome Measures

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