Not yet recruitingNAINTERVENTIONAL

Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease

This study aims to make it easier to find a rare genetic condition called Acid Sphingomyelinase Deficiency (ASMD) in people who have a lung problem known as Interstitial Lung Disease (ILD). ASMD can be hard to spot because it's not well-known. Researchers will take blood samples from about 200 people with ILD who also have certain other health signs, like an enlarged spleen or low cholesterol. These signs might suggest a higher chance of having ASMD. The goal is to develop a better way for doctors to test for ASMD, which could help more people get diagnosed and treated with a new medication that became available in 2022. This could improve their health and stop the condition from getting worse.

At a glance

Status

Not yet recruiting

Phase

Sponsor

Wladimir MAUHIN, Dr

Enrolment target

200

Start

01 May 2025

Estimated completion

01 Mar 2029

Splenomegaly Splenectomy Thrombopenia Interstitial Lung Disease (ILD)Hypocholesterolemia

What is this study about?

This research study is about finding a rare genetic condition called Acid Sphingomyelinase Deficiency (ASMD), sometimes known as Niemann-Pick disease. ASMD can cause different health issues, and often isn't diagnosed very easily or early because it's not widely known about by doctors. There's a new treatment available, so finding people with ASMD is more important than ever.

The study focuses on people who have a lung condition called Interstitial Lung Disease (ILD). ILD is quite common, but the researchers are looking at a specific group within the ILD community. They want to check if people with ILD who also have certain other health signs – like an enlarged spleen, low blood platelets, or low levels of 'good' cholesterol – might also have ASMD. These extra signs can make it more likely that someone has ASMD.

The main goal is to create a better tool or guideline for doctors to help them decide when to test for ASMD. By doing this, the researchers hope that more people who have ASMD can be found and given treatment earlier. This could make a big difference in managing their health and preventing the condition from getting worse.

Key takeaways

This study helps doctors find a rare genetic condition called ASMD.
It focuses on people with a lung condition called ILD and specific other health signs.
Participation involves giving a blood sample and a follow-up visit.
The goal is to improve ASMD diagnosis, so more people can get timely treatment.
A new treatment for ASMD became available recently.

Who may be eligible?

You might be able to join this study if you are between 15 years and 3 months old, up to 60 years old. You must have a lung condition called Interstitial Lung Disease (ILD) that has a specific appearance on a CT scan of your chest.

In addition to ILD, you must also have at least one of the following health signs: an enlarged spleen (which your doctor can feel or measure), or you've had your spleen removed. Other signs include having low blood platelets, low levels of 'good' (HDL) cholesterol, or if your parents are related. These additional signs help identify people who might be at higher risk for ASMD.

You cannot take part if you are unable to understand the study information, are under legal guardianship, or are in prison or similar situations.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you between 15 years and 3 months, and 60 years old?
Do you have Interstitial Lung Disease (ILD) with specific findings on a CT scan?
Do you have an enlarged spleen, or have you had your spleen removed?
Do you have low blood platelet counts?
Do you have low 'good' (HDL) cholesterol?
Are your parents related (parental consanguinity)?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will be asked to provide a blood sample. This blood sample will be used to measure specific enzymes and other markers that can show whether you might have ASMD. You will then have a follow-up visit with the study team about six months later. This study does not involve taking any new medication or undergoing any experimental treatments. Your participation will help researchers understand more about ASMD and how to diagnose it earlier.

Potential risks and benefits

A potential benefit of joining this study is that you might discover if you have ASMD, which could lead to earlier treatment with a new medication if needed. This could help manage your condition and improve your health. The main risk involved is the discomfort of a blood draw, which is generally minor and temporary. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Groupe Hospitalier Diaconesses Croix Saint-Simon
Verified postcode
Paris, France

Common questions

What is ASMD?

ASMD is a rare genetic condition that can affect different organs in the body.

Why is this study looking at people with ILD?

The study focuses on people with ILD because there's a known link between certain types of ASMD and this lung condition, especially when other specific health signs are present.

What is a 'blood sample for dosage'?

It means giving a sample of your blood so doctors can measure specific levels of substances in it to check for ASMD.

Will I get a new medication if I join?

The study aims to improve diagnosis, but it does not involve giving new medication. If ASMD is found, your doctor will discuss treatment options with you.

What is 'parental consanguinity'?

This means your parents are related by blood, which can sometimes increase the chance of rare genetic conditions like ASMD.

How to find out more

Djazia BOUZELMAT Clinical Research Assistant

dbouzelmat@hopital-dcss.org + 33 01 44 64 30 98 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.