RecruitingOBSERVATIONAL

A Study in Adults to Learn About Inherited Alpha-1 Antitrypsin Deficiency (AATD) and AATD Related Liver Problems

This study is designed to help us understand more about liver problems that can happen in adults who have a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD). When people have AATD, their body doesn't make enough of a special protein that protects the lungs and liver. This study will follow participants for five years to see how liver problems naturally develop and change over time without specific treatment. We also want to find out what might make these liver problems start or get worse, how doctors are currently diagnosing and monitoring them, and how AATD also affects adults' lung health. Participants will share their medical history and complete questionnaires each year.

At a glance

Status

Recruiting

Sponsor

Takeda

Enrolment target

500

Start

25 Sep 2024

Estimated completion

06 Apr 2032

Alpha1-Antitrypsin Deficiency

What is this study about?

This research study is all about understanding a genetic condition called Alpha-1 Antitrypsin Deficiency, or AATD. If you have AATD, your body doesn't produce enough of a protein called alpha-1 antitrypsin. This vital protein helps protect your lungs and liver. When there isn't enough of this protein, it can lead to health problems, especially in the liver and lungs.

The main goal of this study is to closely watch and learn about how liver problems develop and change over five years in adults with AATD who aren't receiving specific treatment for their liver condition. Think of it like observing the 'natural journey' of the disease. The study isn't testing a new medicine or treatment; instead, it's about gathering information to better understand the condition itself. Researchers also want to find out what factors might predict whether someone's liver condition will start, get better, or get worse. They will also look at how AATD is currently diagnosed and monitored in regular hospital care, and how it impacts an adult's lung function.

By taking part, you'd be helping doctors and researchers gain valuable knowledge about AATD and its effects on the liver and lungs. This information could, in the future, help improve how AATD is understood, diagnosed, and managed for other patients. It's about building a clearer picture of living with AATD.

Key takeaways

Study aims to understand AATD-related liver problems over 5 years.
No new treatments – it's an observational study.
Involves sharing medical history and annual questionnaires.
Helps researchers learn about the natural course of the condition.
Requires specific genetic types of AATD (Pi*ZZ or Pi*SZ).
Participation could improve future understanding and care for AATD patients.

Who may be eligible?

To join this study, you need to be at least 18 years old. You must have a confirmed diagnosis of Alpha-1 Antitrypsin Deficiency (AATD). This includes specific genetic types of AATD, either called Pi*ZZ or Pi*SZ. If you have the Pi*SZ type, you also need to have moderate to severe liver disease that has been diagnosed through tests like a liver biopsy or other blood and imaging scans.

You cannot take part if you have certain other specific AATD genetic types. You also can't join if you've already had a liver transplant. If you've recently been part of another study testing a treatment for liver or lung disease, or are currently receiving a specific experimental treatment for AATD, you wouldn't be able to participate. Finally, if you haven't recently had certain liver tests done (like a biopsy, MRE, or FibroScan) and don't have plans to have one, you wouldn't be eligible.

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 18 years old or older?
Do you have a confirmed diagnosis of Alpha-1 Antitrypsin Deficiency (AATD)?
Have you been told you have the Pi*ZZ or Pi*SZ genetic type of AATD?
If you have Pi*SZ AATD, do you also have moderate to severe liver disease?
Have you NOT had a liver transplant?
Are you NOT currently in another study testing a new liver or lung treatment?

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 share your medical history. This will include details about when your AATD was first identified and when any related liver or lung problems were diagnosed. At the beginning of the study, and then once every year for five years, you will be asked to fill out some questionnaires. These questionnaires are called 'patient-reported outcomes' and they ask about your health and how you are feeling. This study does not involve taking any new medications, having extra doctor visits beyond your usual care, or undergoing any special procedures. It's mainly about collecting information from your existing medical records and through these annual questionnaires for five years.

Potential risks and benefits

There is no direct medical benefit to you from taking part in this study, as it does not involve new treatments. However, your participation will provide valuable information that could help doctors better understand AATD and potentially improve care for others in the future. The risks of this study are very low, mainly involving the time spent completing questionnaires and the possibility that reviewing your medical records might uncover sensitive information. You are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (2)

University of Florida
Verified postcode
Gainesville, United States· Recruiting
Universitätsklinikum Aachen AöR
Verified postcode
Aachen, Germany· Recruiting

Common questions

What is Alpha-1 Antitrypsin Deficiency (AATD)?

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

Will I receive any new treatment in this study?

No, this study does not involve any new treatments or medicines. It's about observing the condition's natural progression.

How long does the study last?

You would be part of the study for five years, providing information once a year.

Will taking part affect my regular medical care?

No, this study is designed to fit in with your usual medical care and should not affect it.

What do 'Pi*ZZ' or 'Pi*SZ' mean?

These are specific genetic types of AATD. The study is looking for people with one of these particular genetic makeups.

How to find out more

Takeda Contact

medinfous@takeda.com +1-877-825-3327 Official trial record

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