Rare Endocrinology News
Alpha-1 antitrypsin deficiency is a genetic disorder that may result in lung disease or liver disease
Age of Onset
5 Facts you should know
Onset of lung problems is typically between 20 and 50 years of age
Affects about 1 in 2,500 people of European descent
About 3% of people with COPD are believed to have AATD
AAT deﬁciency is an inherited condition that is caused by mutations in the SERPINA1 gene
AATD may cause several manifestations associated with liver disease, which include impaired liver function and cirrhosis
Interest over time
Common signs & symptoms
Yellowing of the skin
Scar tissue replaces healthy tissue in the liver
In general, the treatment of medical problems associated with alpha-1 antitrypsin deficiency (AATD) includes the standard medical therapies and supportive care for the specific medical problem. However, there is one special therapy available to some people with AATD who have lung problems called augmentation therapy (sometimes called replacement therapy).
Augmentation therapy aims to increase the blood level of alpha-1 antitrypsin protein (AAT) by adding purified, human AAT directly into the person's blood through intravenous (IV) infusion. The goal is to prevent the progression of lung disease. Skin problems usually get better as well. Augmentation therapy does not affect liver disease associated with AATD.
- Are older than 18 years of age.
- Have levels of alpha-1 antitrypsin in blood that are less than 11 micromoles/liter.
- Have pulmonary function tests (spirometer ) that show airway obstruction.
- Do not smoke or have stopped smoking for at least the last 6 months.
- Are willing to be get the infusions weekly at the hospital.
- Do not have immunoglobulin A deficiency, because the therapy with alpha-1 may contain traces of immunoglobulin type A (IgA), and patients with IgA deficiency may have antibodies against IgA.
- In some cases it is also done in people who have normal airflow, but who have a CT scan that shows emphysema in the lung.
- Antibiotics to treat infections.
- Bronchodilators and inhaled steroids can help open the airways and make breathing easier.
- Exercise program.
- Lung volume reduction surgery.
- Lung transplantation for patients with advanced emphysema due to severe AAT deficiency.
- Liver transplantation for patients with severe liver disease. After a liver transplant the AAT deficiency is corrected, because normal donor liver produces and secretes normal AAT.
- Vaccination against hepatitis A and B.
- Preventive vaccines against influenza and pneumococcal vaccines.
- Avoid using tobacco.
- Avoid or minimize drinking alcohol (for those at risk for liver disease).
- Avoid other environmental risk factors such as chemical exposures.
- Liver function tests periodically for people with two copies of the Z allele (PI*ZZ).
- Lung function test every six to 12 months people with severe AATD.
- Liver ultrasound, in cases of liver disease, every 6 to 12 months to monitor for fibrotic changes (cirrhosis) and liver cancer (hepatocellular carcinoma).
Top Clinical Trials
|Evaluate Efficacy and Safety of "Kamada-AAT for Inhalation" in Patients With AATD||The current study population will consist of adult patients with congenital alpha-1 antitrypsin (AAT) deficiency who have moderate airflow limitation (forced expiratory volume in 1 second 50% ≤ [FEV1] ≤ 80% of predicted) and FEV1/slow vital capacity [SVC] ≤ 70% and who have not experienced two or more moderate or one or more severe exacerbations of COPD during the past year.||Phase 3||Recruiting||Drug: Alpha 1-Antitrypsin|Drug: Placebos||More Info|
|An Extension Study of Belcesiran in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATLD)||This is a Phase 2, multicenter, open-label extension of Study DCR-A1AT-201, designed to evaluate the long-term safety and further characterize the pharmacodynamics (PD) of belcesiran in adult patients with PiZZ AATLD.||Phase 2||Enrolling by invitation||Drug: Belcesiran||More Info|
|A Study of Belcesiran in Patients With A1ATD-Associated Liver Disease||This is a multiple dose, randomized, placebo-controlled, double-blind study of belcesiran to evaluate the safety, tolerability, PK, and PD in adult patients with PiZZ A1ATD-associated liver disease.||Phase 2||Recruiting||Drug: belcesiran|Other: Placebo||More Info|
|Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency||This is a 2-year open-label, multicenter extension of the double-blind, placebo-controlled GTi1201 study. The purpose of this study is to obtain an additional 2 years of safety data for intravenously administered Alpha1-MP 60 mg/kg/week in subjects with alpha1-antitrypsin deficiency (AATD).||Phase 3||Enrolling by invitation||Biological: Alpha-1 MP||More Info|
|Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency||This is a Phase 2, multicenter, double-blind, randomized (1:1), placebo-controlled, 12-week, proof-of-concept study to evaluate the safety and tolerability as well as the mechanistic effect of oral administration of alvelestat (MPH966) in subjects with confirmed AATD defined as Pi*ZZ, Pi*SZ, Pi*null, or another rare phenotype/genotype known to be associated with either low (serum AAT level <11 μM or <57.2 mg/dL) or functionally impaired AAT including "F" or "I" mutations.||Phase 2||Recruiting||Drug: Alvelestat (MPH966)|Other: Placebo||More Info|
|A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin Deficiency||The purpose of this study is to evaluate the safety and tolerability of 72 milligrams per kilogram (mg/kg) and 144 mg/kg Alpha-1 15%, administered as a single-dose subcutaneous (SC) infusion and subsequently as weekly SC infusions over 8 weeks in participants with Alpha1-Antitrypsin Deficiency (AATD).||Phase 1|Phase 2||Recruiting||Biological: Alpha-1 15%|Biological: Liquid Alpha1-Proteinase Inhibitor (Human)||More Info|
|Efficacy and Safety of Alpha1-Proteinase Inhibitor (Human), Modified Process (Alpha-1 MP) in Subjects With Pulmonary Emphysema Due to Alpha1 Antitrypsin Deficiency (AATD)||This is a multi-center, randomized, placebo-controlled, double blind clinical study to assess the efficacy and safety of two separate dose regimens of Alpha-1 MP versus placebo for 156 weeks (i.e., 3 years) using computed tomography (CT) of the lungs as the main measure of efficacy.||Phase 3||Recruiting||Biological: Alpha-1 MP|Other: 0.9% Sodium Chloride for Injection, USP||More Info|
Top Treatments in Research
|Agent||Class/Mechanism of Action||Development Status||Company||Clinical Studies||More Information|
|Alpha 1-Antitrypsin||Its primary mechanism is inhibiting the action of the serine protease called elastase (also plasmin and thrombin) in the lungs. The reactive center loop (RCL) of alpha-1 proteinase inhibitor extends out from the body of the protein and directs binding to the target protease.||Phase 3||Kamada, Ltd.|Syneos Health||More Info||More Info|