Identifying lung biomarkers in patients with ASMD
Biomarkers Of Lung InVolvement In ASMD
This study is trying to find specific substances in the breath of people with Acid Sphingomyelinase Deficiency to see if they can help us understand lung problems better compared to healthy individuals.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 68 (estimated) |
| Ages | 12 Years and up |
| Sex | All |
| Sponsor | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Academic / other |
| Locations | 1 site (Amsterdam, Noord-Holland) |
| Trial ID | NCT05914727 on ClinicalTrials.gov |
What this trial studies
This study aims to characterize the breath profiles of patients with Acid Sphingomyelinase Deficiency (ASMD) by analyzing their exhaled breath and condensate in comparison to healthy controls. Participants will provide breath samples through various methods to identify specific volatile and non-volatile compounds that may indicate inflammatory or fibrotic processes in the lungs. The study includes both a cross-sectional case-control component and a prospective cohort component to gather comprehensive data on potential biomarkers for lung injury in ASMD patients.
Who should consider this trial
Good fit: Ideal candidates for this study are patients aged 12 and older with a confirmed diagnosis of the chronic visceral subtype of ASMD.
Not a fit: Patients who are unable to adhere to the study protocol or cannot complete spirometry tests may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to the identification of biomarkers that help determine which ASMD patients may benefit from upcoming enzyme replacement therapies.
How similar studies have performed: While the approach of using breath analysis for lung disease is established, this specific application in ASMD is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Patients: * The patient has a biochemical and genetically confirmed diagnosis of the chronic visceral subtype of ASMD * The patient is willing and able to provide written informed consent prior to the study-related procedure. * The patient is ≥ 12 years of age Healthy controls: * The individual is willing and able to provide written informed consent prior to the study-related procedure * The individual is ≥ 16 years of age * General good health as determined by medical history Exclusion Criteria: Patients: * Inability to adhere to the study protocol * When a patient is not able to complete a spirometry test, the eNose sample will not be collected. Healthy controls: * Medical history of (systemic) disease for which medication was necessary * Inability to adhere to the study protocol
Where this trial is running
Amsterdam, Noord-Holland
- Amsterdam UMC — Amsterdam, Noord-Holland, Netherlands (Recruiting)
Study contacts
- Principal investigator: Carla EM Hollak, MD, PhD, prof — Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
- Study coordinator: Eline CB Eskes, MD
- Email: e.c.eskes@amsterdamumc.nl
- Phone: 003125669111
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.