Rare disease
Alpha-1 Antitrypsin Deficiency
Clinical trials recruiting in Australia for Alpha-1 Antitrypsin Deficiency, a rare disease, as the public registries list them.
Also called: Alpha-1-proteinase inhibitor deficiency; Alpha1-antitrypsin deficiency; AATD; AAT deficiency; A1AD; A1ATD; Alpha-1 protease inhibitor deficiency
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At a glance
5 trials recruiting in Australia
23 trials recruiting overseas
1-5 / 10 000 (Point prevalence, Ireland, Validated) prevalence
All ages age of onset
13 October 2026 date last checked
Trials in Australia
This Australian count is likely to be on the low side. It counts the trials this site files under this condition; the registry’s own search is broader and also returns closely related conditions, some of which have their own page here. If you are searching widely, check the registry as well — every trial below links to its own record.
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By invitation Phase 3
Phase 3 study for people with Alpha-1 Antitrypsin Deficiency
WhereNo Australian site on this record is listed as recruiting right now, even though the trial itself is open. Check with the site or the official record before travelling.
- Grifols Investigative Site, Darlinghurst (NSW) — this site's status is not stated on the record
- Grifols Investigative Site, Adelaide (SA) — this site's status is not stated on the record
- Grifols Investigative Site, Chermside (QLD) — this site's status is not stated on the record
- Grifols Investigative Site, Fitzroy (VIC) — this site's status is not stated on the record
- Grifols Investigative Site, Nedlands (WA) — this site's status is not stated on the record
Who can join Age 20 Years to 72 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Grifols Therapeutics LLCTimelineStarted 1 July 2016 Today 16 October 2026 Estimated completion 1 September 2028NCT02796937 · Checked 11 October 2026
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Recruiting Phase 3
Phase 3 study for people with Alpha-1 Antitrypsin Deficiency
Where- Royal Adelaide Hospital, Adelaide (SA) — Withdrawn
- St Vincents Hospital Melbourne - PPDS, Fitzroy (VIC) — Recruiting
Who can join Age 18 Years to 75 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor TakedaTimelineStarted 6 March 2023 Today 16 October 2026 Estimated completion 17 January 2029NCT05677971 · Checked 11 October 2026
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Recruiting Phase 2
Phase 2 study for people with Alpha-1 Antitrypsin Deficiency
Where- Clinical Study Center, Adelaide — Recruiting
- Clinical Study Center, Fitzroy — Recruiting
Who can join Age 18 Years to 75 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Beam Therapeutics Inc.TimelineStarted 19 June 2024 Today 16 October 2026 Estimated completion 1 May 2028NCT06389877 · Checked 12 October 2026
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Recruiting Phase 2
Phase 2 study for people with Alpha-1 Antitrypsin Deficiency
Where- Clinical Study Center, Fitzroy (VIC) — Recruiting
Who can join Age 18 Years to 70 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor Tessera Therapeutics, Inc.TimelineStarted 21 April 2026 Today 16 October 2026 Estimated completion 1 March 2029NCT07227207 · Checked 11 October 2026
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Recruiting Phase 1
Phase 1 study for people with Alpha-1 Antitrypsin Deficiency
Where- Clinical Study Center, Melbourne — Recruiting
Who can join Age 18 Years to 74 Years. Sex Anyone, regardless of sex. Healthy volunteers Not accepted.Sponsor AIRNA CorporationTimelineStarted 17 March 2026 Today 16 October 2026 Estimated completion 1 November 2028NCT07431112 · Checked 13 October 2026
Trials overseas
23 trials for this disease are open to new participants outside Australia, as ClinicalTrials.gov listed them on 11 October 2026. Voxsanity does not publish a page for any of them; the searches below reach them at the registry.
These overseas counts are likely too high. They come from the registry’s own search, which expands a condition name to related conditions, so some of the trials counted are for a different disease in the same family.
Search ClinicalTrials.gov Search the WHO registry portal Joining a trial overseas
Trials not shown here
Some Australian trials are registered only on the Australian New Zealand Clinical Trials Registry and are not shown here. Search them at Australian Clinical Trials.
Key facts
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com).
About Alpha-1 Antitrypsin Deficiency
The text below is reproduced exactly as its source published it. It has not been edited, shortened or rewritten.
What is alpha-1 antitrypsin deficiency (AAT deficiency)? Alpha-1 antitrypsin deficiency (AAT deficiency, or AATD) is an inherited condition that raises your risk for lung and liver disease. If you have this condition, your body doesn't make enough alpha-1 antitrypsin (AAT). AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency. What causes alpha-1 antitrypsin deficiency (AAT deficiency)? AAT deficiency is a genetic disorder. That means it's caused by changes in your genes, which may also be called gene variants or mutations. Your genes carry information that controls what you look like and how your body works. AAT deficiency is caused by changes in the SERPINA1 gene, which carries instructions for making the AAT protein. These gene changes are inherited from your parents, so AAT deficiency tends to run in families: - If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45. - If you have one mutated copy of the gene, you are a carrier of AAT deficiency. In these cases, this means you are at slightly higher risk of developing lung disease, especially if you have other risk factors, such as being a smoker. You could still pass the mutated gene on to your children. There are a few gene changes that cause AAT deficiency. These gene changes can: - Decrease the amount of AAT protein your liver makes. - Prevent your liver from making any AAT. - Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage. What are the symptoms of alpha-1 antitrypsin deficiency (AAT deficiency)? Some people who have AAT deficiency do not have any symptoms. For those who do, symptoms usually appear in people between 20 and 50 years old. These symptoms may include: - Wheezing - Shortness of breath, especially after exercise - Chronic cough with phlegm (mucus) - Repeated respiratory infections such as colds and the flu - Chest pain - Fatigue - Faster-than-normal heartbeat when you stand up - Vision problems - Losing weight without trying Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs. Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches. How is alpha-1 antitrypsin deficiency (AAT deficiency) diagnosed? Your health care provider may test you for AAT deficiency if you have: - Symptoms of AAT deficiency - A condition that could be related to AAT deficiency - Relatives who have AAT deficiency - Relatives who have a lung or liver disease that could be related to AAT deficiency AAT deficiency in babies often affects the liver. Your baby may need AAT testing if he or she has signs of liver disease such as jaundice or abnormal liver enzyme tests. A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency. A genetic test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test. There are two types of genetic tests: - A genotype test looks for the more common types of gene changes that can cause AAT deficiency. - A phenotype test checks for changes in the AAT protein that change how it would normally work. If your lungs are affected, you may also have lung function tests to see how well your lungs are working. What are the treatments for alpha-1 antitrypsin deficiency (AAT deficiency)? There is no cure for AAT deficiency, but there are treatments to help with the symptoms and slow the lung damage it causes. Treatment options may include: - Inhaled medicines to help you breathe better. - Pulmonary rehabilitation. - Oxygen therapy. - Augmentation therapy, which is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage. - Lung surgery or a lung transplant, if your lungs are severely damaged. - Liver transplant, if your liver is severely damaged. To help prevent or delay lung damage, it is important to quit smoking (if you smoke) and avoid secondhand smoke, dust, and air pollution. Ask your provider If you need to stop drinking alcohol.
US source; availability in Australia may differ.
Source: MedlinePlus Health Topics (medlineplus.gov), public domain (U.S. National Library of Medicine). Read the full source.
Sources and dates
- ClinicalTrials.gov – trial records, statuses and site lists
- MedlinePlus – the About text above, reproduced exactly
- Orphanet / Orphadata – prevalence, age of onset, inheritance, genes and alternative names, used under CC BY 4.0
- ClinicalTrials.gov processing date: 6 October 2026.
- This page last checked by Voxsanity: 13 October 2026.
Voxsanity reformats data from public registries into this layout. It does not edit, interpret or add to what the registry published.
Not medical advice.
Individual trial records are refreshed on a rolling basis rather than all at once, so a record may be up to several weeks old. Each trial page and trial card shows the date its own record was last synced. Where a record has lagged, its status, sites and enrolment can differ from the current registry state in either direction, so check the registry link on the trial page before acting on them.
Orphanet citation
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://www.orphadata.com. Used under CC BY 4.0. Source: Orphanet / Orphadata (orphadata.com). Accessed 20 September 2026.
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