A new study, sponsored by CSL Behring, looked at previously published research about alpha 1 antitrypsin deficiency and found:
- significant clinical and quality of life burden
- high direct medical costs
- high use of health care
Here are three takeaways from the research, published in European Respiratory Review by a team of authors led by Dr. Marc Miravitlles, a respiratory specialist with the Vall d’Hebron hospital system in Barcelona, Spain. Several CSL Behring scientists were part of the research team that examined 38 prior studies. CSL Behring, a global biotech leader, develops and manufactures medicine for patients who have rare and serious diseases, including alpha 1.
- While “quality of life” sounds like something that would be hard to measure and compare, researchers have developed a variety of tools for assessing it. The study authors looked at previous studies that used a standard questionnaire for respiratory patients and found “a moderate impairment of quality of life” among alpha 1 patients. The condition may be disruptive for a variety of reasons, including breathing difficulty, frequent medical appointments, the need for assistive oxygen and the need for regular replacement therapy infusions. Quality of life scores were lower for alpha 1 patients diagnosed with COPD and for current smokers versus former smokers and those who never smoked.
- Some tests, including CT scans that measure lung density (CT densitometry) correlate with measurements of patients’ quality of life when using assessments designed for people who have obstructive airways disease. That means these medical tests track along with how the patient rated quality of life, which is assessed with questions such as “How often do you cough?”
- Caregivers reported a variety of concerns and difficulties in five qualitative studies in the United States, Sweden and England. Parents, spouses and loved ones of patients reported burdens such as:
- loss of flexibility in their work and social lives
- anxiety, stress and despair due to the patient’s struggles
- in the case of parents, guilt that their genetic makeup may have been responsible for the disease
- financial pressures
- lack of knowledge about alpha 1 among health care workers and the general public
- lack of access to information for patients and caregivers
The study authors also noted something that will be familiar to anyone who follows rare disease research: There wasn’t enough data and the data available across the 38 studies was often like comparing apples and oranges.
“Most published AATD studies were small and short in duration, with variations in populations, designs, measures and outcomes, complicating cross-study comparisons,” the authors wrote. “This has serious clinical consequences, as characterizing efficacy and safety profiles of treatments is complex in the absence of a clear understanding of the burden, natural history and prognosis of the disease.”
Looking ahead to more research that could fill the gaps, the authors said there’s an urgent need for multinational registries that can gather a large volume of data in a consistent way. The European Alpha-1 Research Collaboration (EARCO) is one such research initiative that’s underway, the authors wrote. Learn more about the group’s core project, the International AATD Registry, which is open to investigators around the world caring for alpha 1 patients.