Active not recruitingPHASE1INTERVENTIONAL

Study of BMN 349 Single Dose in PiZZ and PiMZ/MASH Adult Participants

This research study is looking at a new medicine called BMN 349. It's for adults, aged 18 to 75, who have a condition called Alpha-1 Antitrypsin Deficiency (AATD), specifically types PiZZ or PiMZ/MASH. This condition is genetic and can affect the liver and lungs. The main goal of this study is to find out if a single dose of BMN 349 is safe and how well people tolerate it. To do this, some participants will receive the active medicine, while others will get a placebo (a dummy medicine with no active ingredients). After receiving the dose, participants will be closely monitored. This is an early-stage study, known as Phase 1, which means it's one of the first times this medicine is being tested in humans to check its safety before moving on to larger studies.

At a glance

Status

Active not recruiting

Phase

PHASE1

Sponsor

BioMarin Pharmaceutical

Enrolment target

Start

21 Feb 2025

Estimated completion

19 Aug 2026

Alpha 1-Antitrypsin Deficiency

What is this study about?

This study is about a new medicine called BMN 349, and it's for people who have a genetic condition known as Alpha-1 Antitrypsin Deficiency (AATD). You might hear it called 'Alpha-1' for short. This condition means your body doesn't make enough of a special protein that protects your lungs and liver. Depending on your specific genetic type, like PiZZ or PiMZ/MASH, it can lead to problems with these organs.

The main purpose of this study is to see if BMN 349 is safe to use and if people can take it without too many uncomfortable side effects. This is the very first step in testing new medicines in people, so it's a careful process. Researchers want to make sure a single dose of this medicine doesn't cause any serious problems with your body, including your blood, lungs, or heart.

To do this, some participants will receive a single dose of the BMN 349 medicine, and others will receive a placebo. A placebo looks just like the real medicine but contains no active ingredients. This helps researchers compare the effects accurately. All participants will be closely watched by doctors and nurses to check how they react and to record any changes in their health.

Key takeaways

This study is testing a new medicine, BMN 349, for Alpha-1 Antitrypsin Deficiency.
It's a Phase 1 study, meaning the main goal is to check safety and how well people tolerate a single dose.
Participants will either receive BMN 349 or a placebo (dummy medicine).
Close monitoring, including blood, lung, and heart tests, will be performed after the dose.
Adults aged 18-75 with specific genetic types of AATD who are non-smokers may be eligible.
You can withdraw from the study at any time without affecting your medical care.

Who may be eligible?

To join this study, you would need to be an adult between 18 and 75 years old. Doctors will need to confirm you have Alpha-1 Antitrypsin Deficiency, specifically the PiZZ or PiMZ/MASH genetic types.

It's important that you haven't smoked or used any nicotine products for at least six months before starting the study. This includes tobacco and other nicotine-containing items.

There are also some reasons why you couldn't join. For example, if your blood tests show certain issues with your liver, or if you've recently (in the last three months) had pneumonia. Also, if you're currently receiving or have recently had other treatments for Alpha-1, called 'augmentation therapy', you wouldn't be able to participate.

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 18 and 75 years old?
Do you have a confirmed diagnosis of PiZZ or PiMZ/MASH Alpha-1 Antitrypsin Deficiency?
Have you not smoked or used any nicotine products in the last 6 months?
Are you not currently receiving (or haven't recently received) other AATD augmentation therapies?
Have your recent liver blood tests been within acceptable limits?
Have you not had pneumonia in the last 3 months?

Answer every question to see your result.

What does participation involve?

If you join this study, you would receive a single dose of either the study medicine (BMN 349) or a placebo. You wouldn't know which one you're getting, and neither would the study team, to keep the results fair. After taking the dose, you would be carefully monitored by the study doctors and nurses. This monitoring will involve regular check-ups, blood tests, lung function tests, and heart readings (ECGs) to make sure you are safe and to see how your body reacts to the medicine. The total duration of your participation would involve this single dose and subsequent monitoring appointments, with the exact schedule explained in detail by the study team.

Potential risks and benefits

Taking part in any research study has potential benefits and risks. A potential benefit of this study is helping researchers learn more about BMN 349, which could lead to new treatments for Alpha-1 Antitrypsin Deficiency in the future. You might also receive careful medical attention and monitoring throughout the study. However, some risks could include experiencing side effects from the study medicine, even if it's generally well-tolerated. It's also possible that the medicine might not help your condition. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (7)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

University of California, San Diego
Verified postcode
San Diego, United States
Saint Louis University
Verified postcode
St Louis, United States
Medpace Clinical Pharmacology Unit
Verified postcode
Cincinnati, United States
The Medical University of South Carolina
Verified postcode
Charleston, United States
NHS Lothian
Verified postcode
Edinburgh, United Kingdom
Royal Free London NHS Foundation Trust
Verified postcode
London, United Kingdom
University Hospital Southampton NHS Foundation Trust
Verified postcode
Southampton, United Kingdom

Common questions

What is Alpha-1 Antitrypsin Deficiency?

It's a genetic condition where your body doesn't produce enough of a protein that protects your lungs and liver, which can lead to health problems.

What is a 'Phase 1' study?

It's the first stage of testing a new medicine in people. The main goal is to check how safe it is and how well people tolerate it, rather than if it works.

What is a 'placebo'?

A placebo is a 'dummy' medicine that looks like the real thing but has no active ingredients. It helps researchers compare the effects of the active medicine accurately.

Will I know if I'm getting the real medicine or the placebo?

No, you won't. This is called 'blinding' and it helps ensure the study results are fair and unbiased.

What does PiZZ or PiMZ/MASH mean?

These are specific genetic types of Alpha-1 Antitrypsin Deficiency that the study is focusing on.