SplenomegalyNiemann-PIDNCT06869499
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
A study testing Blood sampling for dosage in people with Splenomegaly and Splenectomy, run by Wladimir MAUHIN, Dr at 1 site in France.
Trial summary
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 participants with diffuse interstitial lund disease (ILD) at risk of developing ASMD… Read more about this study
- Who is it for?
- Ages 15 to 60 years
- Conditions the study is for
- Splenomegaly, Splenectomy, Thrombopenia
- What is being tested?
- Blood sampling for dosage
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 200 participants
- Where
- 1 siteFrance
- Study dates
- 5 Jun 2025to 1 Mar 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 15 to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist/radiologist or internist.
- At least one of the following criteria :
- Splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm)
- Splenectomy
- Thrombocytopenia (platelets < 150 G/L)
- Low HDL-cholesterol (<0.4 g/l or 1.03 mmol/l)
Show all 9Show fewer
- Notion of parental consanguinity
- Have given their written informed consent, in accordance with regulations.
- Affiliated to the social security system or entitled beneficiary (excluding AME).
Who cannot join
- Inability to understand the information provided.
- Under guardianship, curatorship or legal protection.
- Under restraint or deprived of liberty by judicial or administrative decision.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Groupe Hospitalier Diaconesses Croix Saint-Simon
Paris, 75020
Wladimir MAUHIN, Doctor
About this study
Official title: Niemann-PID: Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 participants with diffuse interstitial lund disease (ILD) at risk of developing ASMD disease.
ILD is common in the general population, so in order to limit the number of differential diagnoses, the population to be studied will be restricted to participants aged between 15 years and 3 months and 60 years, with ILD plus ground-glass opacities on chest CT scan certified by a pulmonologist/radiologist or internist, AND splenomegaly or splenectomy, and/or thrombocytopenia, and/or low HDL cholesterol, and/or parental consanguinity which increase the sensitivity of ASMD screening.
Read more
In this clinical trail, two procedures are added, participants will be asked for :
- a blood sample to measure the acid sphingomyelinase enzyme activity and LysoSM, if required.
- a follow-up visit at 6 months
Read the detailed description
With the prevalence of ASMD estimated to be between 0.4 and 0.6/100,000 births, is probably under-diagnosed because it is not well known. Based on the current literature, no prevalence studies have been carried out, particularly in patients with interstitial lung disease (ILD). Similarly, no decision-making algorithm has been established for screening for ASMD in this participant population. Therefore, we aim to conduct this multicenter clinical trial to assess the relevance of implementing a decision algorithm to optimise screening for ASMD. Validation of this algorithm could provide clinicians with an additional diagnostic tool to improve the management of this disease and prevent its progression. Olipudase-alfa, a specific treatment for ASMD available from 2022, could thus benefit a greater number of people with disease who have been under-diagnosed.
The literature reports an association between chronic visceral ASMD (type B) and the presence of ILD, usually accompanied by splenomegaly or splenectomy (whatever the medical reason or cause), low HDL cholesterol, thrombocytopenia, with a higher frequency in cases of parental consanguinity.
ILD is common in the general population, therefore, in order to limit the number of differential diagnoses, the population to be studied will consist of participants aged between 15 years and 3 months and 60 years, with diffuse interstitial lung disease with ground-glass opacities on chest CT scan certified by a pulmonologist/radiologist or internist. We will propose acid sphingomyelinase activity testing in this population in case of splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm) or splenectomy and/or thrombocytopenia (platelets < 150 G/L) and/or low HDL cholesterol (<0.4 g/l or 1. 03 mmol/l) and/or parental consanguinity increase the sensitivity of ASMD screening.
Considering that detection of ASMD after the age of 60 would not lead to a modification in current management, it was decided to limit the population to 60 years of age. Screening for ASMD, a very rare disease, can only be reasonably performed in a limited and selected population.
Description of actions and procedures added by the research :
- Venous blood collection (4ml EDTA tube) for the determination of :
- acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS/MS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)).
- if acid sphingomyelinase activity < 1.82 μmol/h/l (decreased) is detected, the concentration of lysoSM should be determined on the same sample.
- Appropriate participant management in the event of a positive ASMD screening.
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD), Hypocholesterolemia
- Being tested
- Blood sampling for dosage
- Keywords
- Acid sphingomyelinase deficiency, Ground glass lesions, Niemann Pick A/B, B, lysoSM, smpd1, splenomegaly, interstitial lung disease, screening, acid sphingomyelinase
- Medical subject headings
- Splenomegaly, Thrombocytopenia, Lung Diseases, Interstitial, Niemann-Pick Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampling for dosageProcedure or surgery
4ml blood sample to measure acid sphingomyelinase enzyme activity and LysoSM, if required.
| Study group | Role | What they receive |
|---|---|---|
| Experimental Cohort | Experimental | The participants will be asked for a :
1. Venous blood collection (4ml EDTA tube) for the determination of :
* acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS/MS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)).
* if acid sphingomyelinase activity < 1.82 μmol/h/l (decreased) is detected, the concentration of lysoSM should be determined on the same sample.
2. Appropriate participant care management in the event of a positive ASMD screening. Receives: Procedure: Blood sampling for dosage |
What is being measured
The primary outcome is the main question the study is designed to answer.
ASMD Screening Outcomes in Adults with Diffuse Interstitial Lung Disease
Diagnostic performance of a sequential combined dried blood spot screening strategy for ASMD, assessed by the proportion of patients with abnormal acid sphingomyelinase enzymatic activity and/or elevated lysoSM concentrations, and by the number of confirmed ASMD diagnoses identified among 200 patients with interstitial lung disease at risk for ASMD.
Measured: 60 months
Secondary outcomes (4)
Description of clinical characteristics and associated diseases in patients screened for ASMD in order to better understand the natural history of the disease by assessing the prevalence of comorbidities associated with ASMD.
- Demographic and clinical characteristics cssessed by standardized medical history questionnaire: Includes age at diagnosis, tobacco exposure, alcohol exposure, parental consanguinity, comorbidities, symptom onset, hepatomegaly, splenomegaly, splenectomy history, abdominal pain, bleeding episodes, and dyspnea.
- Previously established differential diagnoses assessed by open-ended medical history questionnaire.
- Interstitial lung disease characteristics assessed by chest computed tomography (CT): Includes septal thickening, honeycombing, and cystic lesions.
- Respiratory function parameters assessed by Pulmonary Function Tests (PFTs): Includes pulmonary functional characteristics derived from PFT results.
- Hematologic and Biochemical Parameters Assessed by Laboratory Evaluations: Includes complete blood count, lipid profile, liver transaminases, and serum protein electrophoresis.
Measured: 60 months
Definition of clinical, biological, and radiological characteristics associated with the existence of ASMD within the PID population (cases/controls).
Clinical, Demographic, Radiological, and Respiratory functional characteristics assessed by medical history questionnaires, Chest Computed Tomography (CT), and pulmonary function tests in participants with and without Acid Sphingomyelinase Deficiency (ASMD)
Measured: 60 months
Description of sample characteristics, particularly the clinical and biological characteristics of false positives in acid sphingomyelinase enzyme assays on blotting paper (decreased enzyme activity, normal lysoSM levels).
Acid Sphingomyelinase enzymatic activity assessed in dried blood spots and Lysosphingomyelin (LysoSM) concentrations
Measured: 60 months
Evaluation of the incidence of Gaucher disease in the target population (detected by assessment of beta-glucocerebrosidase activity using the multiplex test).
- School and occupational participation Assessed by structured social burden questionnaire.
- Need for educational, daily living, and workplace support assessed by structured social burden questionnaire.
- Health-related quality of life assessed by EQ-5D-5L.
- Social and school functioning assessed by pediatric quality of life inventory (PedsQL).
Measured: 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Mar 2025
- Study start5 Jun 2025
- Primary completion1 Mar 2029 (estimated)
- Study completion1 Mar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SplenomegalyStudies 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
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- This study is a multicenter prospective interventional research involving humans with minimal risks and constraints. The minimal risks and study add-ons are: -4ml blood sample for acid sphingomyelinase enzyme activity and LysoSM, if required.
- Masking
- None (open label)
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Wladimir MAUHIN, Dr
- Sponsor type
- University, hospital or other
- Collaborators
- Bichat Hospital, Hospital Avicenne, Rennes University Hospital, Bicetre Hospital, University Hospital, Marseille, Tenon Hospital, Paris, Centre Hospitalier Universitaire Dijon, University Hospital, Lille, Hospices Civils de Lyon
- Responsible party
- Sponsor-investigator, Wladimir MAUHIN, Dr, Groupe Hospitalier Diaconesses Croix Saint-Simon
- Investigators
- Wladimir MAUHIN, Doctor, Principal investigator, Groupe Hospitalier Diaconesses Croix Saint-Simon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06869499
- Sponsor's protocol ID
- 2024-A00050-47
- Acronym
- Niemann-PID
- Status last verified
- Oct 2026
- First submitted
- 19 Feb 2025
- Last updated
- 15 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: not yet decided
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Niemann-PID: Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
- ClinicalTrials.gov ID
- NCT06869499
- Acronym / sponsor ID
- Niemann-PID / 2024-A00050-47
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD), Hypocholesterolemia
- Keywords
- Acid sphingomyelinase deficiency, Ground glass lesions, Niemann Pick A/B, B, lysoSM, smpd1, splenomegaly, interstitial lung disease, screening
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Wladimir MAUHIN, DrUniversity, hospital or other
- Collaborators
- Bichat Hospital, Hospital Avicenne, Rennes University Hospital, Bicetre Hospital, University Hospital, Marseille, Tenon Hospital, Paris, Centre Hospitalier Universitaire Dijon, University Hospital, Lille, Hospices Civils de Lyon
- Study start
- 5 Jun 2025 (actual)
- Primary completion
- 1 Mar 2029 (estimated)
- Study completion
- 1 Mar 2029 (estimated)
- First posted
- 11 Mar 2025 (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 clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200 participants with diffuse interstitial lund disease (ILD) at risk of developing ASMD disease.
ILD is common in the general population, so in order to limit the number of differential diagnoses, the population to be studied will be restricted to participants aged between 15 years and 3 months and 60 years, with ILD plus ground-glass opacities on chest CT scan certified by a pulmonologist/radiologist or internist, AND splenomegaly or splenectomy, and/or thrombocytopenia, and/or low HDL cholesterol, and/or parental consanguinity which increase the sensitivity of ASMD screening.
In this clinical trail, two procedures are added, participants will be asked for :
- a blood sample to measure the acid sphingomyelinase enzyme activity and LysoSM, if required.
- a follow-up visit at 6 months
Detailed description
With the prevalence of ASMD estimated to be between 0.4 and 0.6/100,000 births, is probably under-diagnosed because it is not well known. Based on the current literature, no prevalence studies have been carried out, particularly in patients with interstitial lung disease (ILD). Similarly, no decision-making algorithm has been established for screening for ASMD in this participant population. Therefore, we aim to conduct this multicenter clinical trial to assess the relevance of implementing a decision algorithm to optimise screening for ASMD. Validation of this algorithm could provide clinicians with an additional diagnostic tool to improve the management of this disease and prevent its progression. Olipudase-alfa, a specific treatment for ASMD available from 2022, could thus benefit a greater number of people with disease who have been under-diagnosed.
The literature reports an association between chronic visceral ASMD (type B) and the presence of ILD, usually accompanied by splenomegaly or splenectomy (whatever the medical reason or cause), low HDL cholesterol, thrombocytopenia, with a higher frequency in cases of parental consanguinity.
ILD is common in the general population, therefore, in order to limit the number of differential diagnoses, the population to be studied will consist of participants aged between 15 years and 3 months and 60 years, with diffuse interstitial lung disease with ground-glass opacities on chest CT scan certified by a pulmonologist/radiologist or internist. We will propose acid sphingomyelinase activity testing in this population in case of splenomegaly (palpable spleen or craniocaudal length ≥ 13 cm) or splenectomy and/or thrombocytopenia (platelets < 150 G/L) and/or low HDL cholesterol (<0.4 g/l or 1. 03 mmol/l) and/or parental consanguinity increase the sensitivity of ASMD screening.
Considering that detection of ASMD after the age of 60 would not lead to a modification in current management, it was decided to limit the population to 60 years of age. Screening for ASMD, a very rare disease, can only be reasonably performed in a limited and selected population.
Description of actions and procedures added by the research :
- Venous blood collection (4ml EDTA tube) for the determination of :
- acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS/MS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)).
- if acid sphingomyelinase activity < 1.82 μmol/h/l (decreased) is detected, the concentration of lysoSM should be determined on the same sample.
- Appropriate participant management in the event of a positive ASMD screening.
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- This study is a multicenter prospective interventional research involving humans with minimal risks and constraints. The minimal risks and study add-ons are: -4ml blood sample for acid sphingomyelinase enzyme activity and LysoSM, if required.
| Arm | Type | Receives |
|---|---|---|
| Experimental Cohort | Experimental | Procedure: Blood sampling for dosageThe participants will be asked for a : 1. Venous blood collection (4ml EDTA tube) for the determination of : * acid sphingomyelinase enzyme activity in all participants included in the study. The determination of acid sphigomyelinase enzyme activity will be performed using a multiplex blotting assay that allows simultaneous determination of acid sphigomyelinase activity (ASMD) by tandem MS/MS mass spectrometry, but also Beta-glucocerebrosidase (Gaucher disease), alpha-galactosidase (Fabry disease), Maltase Acid (Pompe disease), Galactocerebrosidase (Krabbe disease), Alpha-L iduronidase (control enzyme) (MPSI)). * if acid sphingomyelinase activity < 1.82 μmol/h/l (decreased) is detected, the concentration of lysoSM should be determined on the same sample. 2. Appropriate participant care management in the event of a positive ASMD screening. |
Who may qualify
- Ages
- 15 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (9 listed)
- Interstitial lung disease with ground-glass lesions on a chest CT scan certified by a pneumologist/radiologist or internist.
- At least one of the following criteria :
- Have given their written informed consent, in accordance with regulations.
- Affiliated to the social security system or entitled beneficiary (excluding AME).
Key exclusion criteria (3 listed)
- Inability to understand the information provided.
- Under guardianship, curatorship or legal protection.
- Under restraint or deprived of liberty by judicial or administrative decision.
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 |
|---|---|---|
| Blood sampling for dosage4ml blood sample to measure acid sphingomyelinase enzyme activity and LysoSM, if required. | Procedure or surgery | Experimental Cohort |
Primary outcome
ASMD Screening Outcomes in Adults with Diffuse Interstitial Lung Disease
Time frame: 60 months
Diagnostic performance of a sequential combined dried blood spot screening strategy for ASMD, assessed by the proportion of patients with abnormal acid sphingomyelinase enzymatic activity and/or elevated lysoSM concentrations, and by the number of confirmed ASMD diagnoses identified among 200 patients with interstitial lung disease at risk for ASMD.
4 secondary outcomes
Description of clinical characteristics and associated diseases in patients screened for ASMD in order to better understand the natural history of the disease by assessing the prevalence of comorbidities associated with ASMD.
Time frame: 60 months
Definition of clinical, biological, and radiological characteristics associated with the existence of ASMD within the PID population (cases/controls).
Time frame: 60 months
Description of sample characteristics, particularly the clinical and biological characteristics of false positives in acid sphingomyelinase enzyme assays on blotting paper (decreased enzyme activity, normal lysoSM levels).
Time frame: 60 months
Evaluation of the incidence of Gaucher disease in the target population (detected by assessment of beta-glucocerebrosidase activity using the multiplex test).
Time frame: 60 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2026.
- Individual participant dataSharing planned: Undecided. not yet decided
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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.
Wladimir MAUHIN, Doctor principal investigator
Groupe Hospitalier Diaconesses Croix Saint-Simon
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sampling for dosage in people with Splenomegaly and Splenectomy, run by Wladimir MAUHIN, Dr at 1 site in France.
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 9 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 15 Oct 2026. 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 France. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Djazia BOUZELMAT Clinical Research Assistant (+ 33 01 44 64 30 98, dbouzelmat@hopital-dcss.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
ASMD Screening Outcomes in Adults with Diffuse Interstitial Lung Disease (time frame: 60 months). 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 15 Oct 2026.