Rare Medical News

Spotlight On

Alpha-1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency is a genetic disorder that may result in lung disease or liver disease

Prevalence

14-20/100,000

46,340 - 66,200

US Estimated

71,890 - 102,700

Europe Estimated

Age of Onset

ageofonset-adult.svg

ICD-10

E88.0

Inheritance

Autosomal dominant

no.svg

Autosomal recessive

rnn-autosomalrecessive.svg

Mitochondrial/Multigenic

no.svg

X-linked dominant

no.svg

X-linked recessive

no.svg

5 Facts you should know

FACT

1

Onset of lung problems is typically between 20 and 50 years of age

FACT

2

Affects about 1 in 2,500 people of European descent

FACT

3

About 3% of people with COPD are believed to have AATD

FACT

4

 AAT deficiency is an inherited condition that is caused by mutations in the SERPINA1 gene

FACT

5

AATD may cause several manifestations associated with liver disease, which include impaired liver function and cirrhosis

Alpha-1 antitrypsin deficiency is also known as...

Alpha-1 antitrypsin deficiency is also known as:

  • AAT deficiency
  • A1AT deficiency
  • AATD
  • Alpha 1 antitrypsin deficiency
  • A1AD

What’s your Rare IQ?

What percent of patients with genetic COPD due to Alpha-1 are estimated to be undiagnosed?

Common signs & symptoms

Emphysema

Hepatic failure

Liver failure

Hepatitis

Liver inflammation

Hepatomegaly

Enlarged liver

Jaundice

Yellow skin
Yellowing of the skin

Cirrhosis

Scar tissue replaces healthy tissue in the liver

Nephrotic syndrome

Current treatments

The only specific therapy for alpha-1 antitrypsin deficiency (AATD) is augmentation therapy. During this therapy, preparations of alpha-1 antitrypsin protein that have been isolated from pooled blood of healthy donors are given by weekly intravenous infusion. This elevates the blood levels of AATD to levels that are protective for the lung.

Source: [Temple Health]

Top Clinical Trials

TitleDescriptionPhasesStatusInterventionsMore Information
Evaluate Efficacy and Safety of "Kamada-AAT for Inhalation" in Patients With AATDThe 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 3RecruitingDrug: Alpha 1-Antitrypsin|Drug: PlacebosMore 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 2Enrolling by invitationDrug: BelcesiranMore Info
A Study of Belcesiran in Patients With A1ATD-Associated Liver DiseaseThis 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 2RecruitingDrug: belcesiran|Other: PlaceboMore Info
Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin DeficiencyThis 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 3Enrolling by invitationBiological: Alpha-1 MPMore Info
Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin DeficiencyThis 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 2RecruitingDrug: Alvelestat (MPH966)|Other: PlaceboMore 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 DeficiencyThe 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 2RecruitingBiological: 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 3RecruitingBiological: Alpha-1 MP|Other: 0.9% Sodium Chloride for Injection, USPMore Info

Top Treatments in Research

AgentClass/Mechanism of ActionDevelopment StatusCompanyClinical StudiesMore Information
Alpha 1-AntitrypsinIts 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 3Kamada, Ltd.|Syneos HealthMore InfoMore Info