I had never heard of Alpha-1 Antitrypsin Deficiency (Alpha-1) until my best friend Chris was diagnosed when she was 45. Alpha-1 is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. A1AD was discovered in 1963, the link to the liver was discovered in 1970. They are still learning more and more every year. Alpha-1 antitrypsin deficiency (A1AD) is a disorder that occurs most frequently in Americans of Northern or Central European descent, affecting approximately 100,000 Americans. However, because most cases of A1AD go unrecognized, the disorder is very much under-diagnosed. The Alpha-1 Foundation has lots of great information and can provide free testing.
Chris’ story
After a lifetime of constant upper respiratory infections, pneumonia and shortness of breath she was left not understanding why in her 40's she was struggling like she was. She had been diagnosed with COPD in her 30's but had been a smoker, and that is what her lung health was blamed on. She also had liver disease.
She met with a new Hepatologist who decided to test her for this "rare disease" but assumed it would be negative. A few days later, at the age of 45, she was diagnosed with Alpha-1 Antitrypsin Deficiency. It was a shock to her, her family, and our circle of friends. Although her parents were both carriers, which they found out after being tested, none of us had ever heard of this disease.
She started on weekly infusions about a month later and has been on them for about 4 years now. Her respiratory infections have been drastically decreased since starting infusions, but there is no way to reverse the damage that has been done to her lungs. The weekly infusions do not help with the liver disease so she will be looking at a possible transplant at some point. A liver transplant is also the only way to stop her liver disease from progressing at this time.
Chris and all of us who love her are grateful that she was diagnosed when she was so that she could begin infusions to help slow the progression of her lung disease and she fights every day to help bring awareness to Alpha-1 in hopes a cure can be found.
Since Chris was diagnosed I have been donating plasma twice a week to help her in the only way I can. It takes 900 plasma donations to create enough infusions to treat one Apha-1 patient for a year. Although my donations do not go directly to Chris I know they are helping someone who needs them.
For more information on how to donate plasma, please visit Plasma Protein Therapeutics Association (PPTA).
In this section
-
Digital Disruption
- AI and clinical trials
-
Clinical trial data anonymisation and data sharing
-
Clinical Trial Tokenisation
-
Closing the evidence gap: The value of digital health technologies in supporting drug reimbursement decisions
-
Digital disruption in biopharma
-
Disruptive Innovation
- Remote Patient Monitoring
-
Personalising Digital Health
- Real World Data
-
The triad of trust: Navigating real-world healthcare data integration
-
Patient Centricity
-
Agile Clinical Monitoring
-
Capturing the voice of the patient in clinical trials
-
Charting the Managed Access Program Landscape
-
Developing Nurse-Centric Medical Communications
- Diversity and inclusion in clinical trials
-
Exploring the patient perspective from different angles
-
Patient safety and pharmacovigilance
-
A guide to safety data migrations
-
Taking safety reporting to the next level with automation
-
Outsourced Pharmacovigilance Affiliate Solution
-
The evolution of the Pharmacovigilance System Master File: Benefits, challenges, and opportunities
-
Sponsor and CRO pharmacovigilance and safety alliances
-
Understanding the Periodic Benefit-Risk Evaluation Report
-
A guide to safety data migrations
-
Patient voice survey
-
Patient Voice Survey - Decentralised and Hybrid Trials
-
Reimagining Patient-Centricity with the Internet of Medical Things (IoMT)
-
Using longitudinal qualitative research to capture the patient voice
-
Agile Clinical Monitoring
-
Regulatory Intelligence
-
An innovative approach to rare disease clinical development
- EU Clinical Trials Regulation
-
Using innovative tools and lean writing processes to accelerate regulatory document writing
-
Current overview of data sharing within clinical trial transparency
-
Global Agency Meetings: A collaborative approach to drug development
-
Keeping the end in mind: key considerations for creating plain language summaries
-
Navigating orphan drug development from early phase to marketing authorisation
-
Procedural and regulatory know-how for China biotechs in the EU
-
RACE for Children Act
-
Early engagement and regulatory considerations for biotech
-
Regulatory Intelligence Newsletter
-
Requirements & strategy considerations within clinical trial transparency
-
Spotlight on regulatory reforms in China
-
Transfer of marketing authorisation
-
An innovative approach to rare disease clinical development
-
Therapeutics insights
- Endocrine and Metabolic Disorders
- Cardiovascular
- Cell and Gene Therapies
- Central Nervous System
-
Glycomics
- Infectious Diseases
- NASH
-
Oncology
- Paediatrics
-
Respiratory
-
Rare and orphan diseases
-
Advanced therapies for rare diseases
-
Cross-border enrollment of rare disease patients
-
Crossing the finish line: Why effective participation support strategy is critical to trial efficiency and success in rare diseases
-
Diversity, equity and inclusion in rare disease clinical trials
-
Identify and mitigate risks to rare disease clinical programmes
-
Leveraging historical data for use in rare disease trials
-
Natural history studies to improve drug development in rare diseases
-
Patient Centricity in Orphan Drug Development
-
The key to remarkable rare disease registries
-
Advanced therapies for rare diseases
-
Transforming Trials
-
Accelerating biotech innovation from discovery to commercialisation
-
Ensuring the validity of clinical outcomes assessment (COA) data: The value of rater training
-
Linguistic validation of Clinical Outcomes Assessments
-
Optimising biotech funding
- Adaptive clinical trials
-
Best practices to increase engagement with medical and scientific poster content
-
Decentralised clinical trials
-
Biopharma perspective: the promise of decentralised models and diversity in clinical trials
-
Decentralised and Hybrid clinical trials
-
Practical considerations in transitioning to hybrid or decentralised clinical trials
-
Navigating the regulatory labyrinth of technology in decentralised clinical trials
-
Biopharma perspective: the promise of decentralised models and diversity in clinical trials
-
eCOA implementation
- Flexible delivery models
-
Implications of COVID-19 on statistical design and analyses of clinical studies
-
Improving pharma R&D efficiency
-
Increasing Complexity and Declining ROI in Drug Development
-
Innovation in Clinical Trial Methodologies
- Partnership insights
-
Risk Based Quality Management
-
Transforming the R&D Model to Sustain Growth
-
Accelerating biotech innovation from discovery to commercialisation
-
Value Based Healthcare
-
Strategies for commercialising oncology treatments for young adults
-
US payers and PROs
-
Accelerated early clinical manufacturing
-
Cardiovascular Medical Devices
-
CMS Part D Price Negotiations: Is your drug on the list?
-
COVID-19 navigating global market access
-
Ensuring scientific rigor in external control arms
-
Evidence Synthesis: A solution to sparse evidence, heterogeneous studies, and disconnected networks
-
Global Outcomes Benchmarking
-
Health technology assessment
-
Perspectives from US payers
-
ICER’s impact on payer decision making
-
Making Sense of the Biosimilars Market
-
Medical communications in early phase product development
-
Navigating the Challenges and Opportunities of Value Based Healthcare
-
Payer Reliance on ICER and Perceptions on Value Based Pricing
-
Payers Perspectives on Digital Therapeutics
-
Precision Medicine
-
RWE Generation Cross Sectional Studies and Medical Chart Review
-
Survey results: How to engage healthcare decision-makers
-
The affordability hurdle for gene therapies
-
The Role of ICER as an HTA Organisation
-
Strategies for commercialising oncology treatments for young adults
-
Blog
-
Videos
-
Webinar Channel