Asmd, Visceral TypeBOLIVIANCT05914727
Biomarkers Of Lung InVolvement In ASMD
A study testing eNose, Volatile exhaled breath sample and Condensate sample in people with Asmd, Visceral Type, run by Eline C. B. Eskes at 1 site in Netherlands.
Trial summary
The goal of this study 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. Read more about this study
- Who is it for?
- Ages 12 years and olderHealthy volunteers can take part
- Conditions the study is for
- Asmd, Visceral Type
- What is being tested?
- eNose, Volatile exhaled breath sample and Condensate sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 68 participants
- Where
- 1 siteNetherlands
- Study dates
- 5 Dec 2022to 1 Sep 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Netherlands1 site, 1 recruiting
- Recruiting
Amsterdam UMC
Amsterdam, North Holland, 1105 AZ
Eline CB Eskes, MD, 0205669111, e.c.eskes@amsterdamumc.nl
Eline CB Eskes, MD
About this study
The goal of this study 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.
Participants will be provided exhaled breath samples in three ways (breath profile, volatile compounds and condensate). ASMD patients will be compared to age- and sex-matched healthy controls.
Read the detailed description
Rationale: 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 chronic visceral subtype of this 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.
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 population: ASMD patients ≥ 12 years of age with a confirmed diagnosis of the chronic visceral type will be included as well as age-, sex- and smoking status-matched healthy controls with a ratio of 1:3.
Main study parameters/endpoints: 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.
Nature and extent of the burden and risks associated with participation, benefit and group relatedness: 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.
- Conditions
- Asmd, Visceral Type
- Being tested
- eNose, Volatile exhaled breath sample, Condensate sample
- Medical subject headings
- Niemann-Pick Disease, Type B
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
eNoseDiagnostic test
Collection of breath profile with eNose
Volatile exhaled breath sampleDiagnostic test
Collection of exhaled breath in Tedlar bag
Condensate sampleDiagnostic test
Collection of exhaled breath condensate with EcoScreen
| Study group | Role | What they receive |
|---|---|---|
| ASMD patients | Other | ASMD patients Receives: Diagnostic Test: eNose; Diagnostic Test: Volatile exhaled breath sample; Diagnostic Test: Condensate sample |
| Healthy controls | Other | Healthy controls Receives: Diagnostic Test: eNose; Diagnostic Test: Volatile exhaled breath sample; Diagnostic Test: Condensate sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath
Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath of ASMD patients. Since this is an explorative study these markers cannot be defined in advance.
Measured: 1 year
Secondary outcomes (1)
Biomarkers with monitoring or prognostic value in ASMD
Biomarkers with monitoring or prognostic value in ASMD patients in a longitudinal study design. Since this is an explorative study these markers cannot be defined in advance.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jun 2023
- Study start5 Dec 2022
- Primary completion1 Apr 2024 (estimated)
- Study completion1 Sep 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Asmd, Visceral TypeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- 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.
- Masking
- None (open label)
- Enrolment
- 68 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eline C. B. Eskes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Eline C. B. Eskes, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
- Investigators
- Carla EM Hollak, MD, PhD, prof, Principal investigator, Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05914727
- Sponsor's protocol ID
- 2020_298#B2021154
- Acronym
- BOLIVIA
- Status last verified
- Jun 2023
- First submitted
- 6 Jun 2023
- Last updated
- 22 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Research data will be submitted as articles to peer-reviewed journals. Also, an abstract of our research data reporting our findings will be submitted for presentations on scientific, public and/or patient organization meetings for oral presentation(s).
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers Of Lung InVolvement In ASMD
- ClinicalTrials.gov ID
- NCT05914727
- Acronym / sponsor ID
- BOLIVIA / 2020_298#B2021154
- Conditions
- Asmd, Visceral Type
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 68 participants (estimated)
- Lead sponsor
- Eline C. B. EskesUniversity, hospital or other
- Study start
- 5 Dec 2022 (actual)
- Primary completion
- 1 Apr 2024 (estimated)
- Study completion
- 1 Sep 2024 (estimated)
- First posted
- 22 Jun 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The goal of this study 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.
Participants will be provided exhaled breath samples in three ways (breath profile, volatile compounds and condensate). ASMD patients will be compared to age- and sex-matched healthy controls.
Detailed description
Rationale: 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 chronic visceral subtype of this 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.
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 population: ASMD patients ≥ 12 years of age with a confirmed diagnosis of the chronic visceral type will be included as well as age-, sex- and smoking status-matched healthy controls with a ratio of 1:3.
Main study parameters/endpoints: 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.
Nature and extent of the burden and risks associated with participation, benefit and group relatedness: 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.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- 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.
| Arm | Type | Receives |
|---|---|---|
| ASMD patients | Other | Diagnostic Test: eNose, Diagnostic Test: Volatile exhaled breath sample, Diagnostic Test: Condensate sampleASMD patients |
| Healthy controls | Other | Diagnostic Test: eNose, Diagnostic Test: Volatile exhaled breath sample, Diagnostic Test: Condensate sampleHealthy controls |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- 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
- The individual is willing and able to provide written informed consent prior to the study-related procedure
- The individual is ≥ 16 years of age
Key exclusion criteria (6 listed)
- 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.
- Medical history of (systemic) disease for which medication was necessary
- Inability to adhere to the study protocol
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| eNoseCollection of breath profile with eNose | Diagnostic test | ASMD patients, Healthy controls |
| Volatile exhaled breath sampleCollection of exhaled breath in Tedlar bag | Diagnostic test | ASMD patients, Healthy controls |
| Condensate sampleCollection of exhaled breath condensate with EcoScreen | Diagnostic test | ASMD patients, Healthy controls |
Primary outcome
Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath
Time frame: 1 year
Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath of ASMD patients. Since this is an explorative study these markers cannot be defined in advance.
1 secondary outcome
Biomarkers with monitoring or prognostic value in ASMD
Time frame: 10 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2023.
- Individual participant dataSharing planned: Undecided. Research data will be submitted as articles to peer-reviewed journals. Also, an abstract of our research data reporting our findings will be submitted for presentations on scientific, public and/or patient organization meetings for oral presentation(s).
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Carla EM Hollak, MD, PhD, prof principal investigator
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing eNose, Volatile exhaled breath sample and Condensate sample in people with Asmd, Visceral Type, run by Eline C. B. Eskes at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 22 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Eline CB Eskes, MD (003125669111, e.c.eskes@amsterdamumc.nl), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Markers of inflammation, fibrosis or sphingolipid accumulation in exhaled breath (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2023.