Jörg Schüttrumpf, MD, Chief Scientific Innovation Officer at Grifols, discusses the Phase 1/2 study evaluating a breakthrough treatment option for alpha1-antitrypsin deficiency.
Alpha-1 antitrypsin deficiency (AATD) is an inherited disease caused by genetic variants in the SERPINA1 gene. These variants cause little to no working alpha-1 antitrypsin protein (AAT) to be made, a protein important for the protection of the lungs. AATD puts patients at an increased risk of having chronic obstructive pulmonary disease (COPD), liver disease, skin problems (panniculitis), and inflammation of the blood vessels (vasculitis). Pulmonary problems almost always occur in adults, whereas liver and skin problems may occur in adults and children. Symptoms may include:
- shortness of breath and wheezing
- repeated infections of the lungs and liver
- yellow skin
- fatigue
- rapid heartbeat when standing
- vision problems
- weight loss
However, some people with AATD have no problems. This causes challenges to the diagnosis process. Often, the lack of symptom manifestation causes late diagnosis where patients already have organ and lung function damage. Because of this, testing for the disease is crucial when there is suspicion of a chronic pulmonary disease.
Traditionally, treatment for AATD includes weekly intravenous infusions with alpha-1-proteinase. However, new subcutaneous treatment options are in development that will improve access to and quality of patient care.
Dr. Schüttrumpf describes the treatment option currently in an eight week Phase 1/2 multi-center, single-dose, and repeat-dose study. Cohort 1 has been completed with no safety issues and is moving on to Cohort 2. Next steps include establishing proper dosing and evaluating efficacy.
For more information about alpha1-antitrypsin deficiency and other rare genetic diseases, visit checkrare.com/...