The CF Foundation website has a ton of information that I would love to share on this post as there is just so much in the pipeline. Here is research update from the foundation along with updates with Maddox specifically.
When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. These parents set their sights high — to advance understanding of this little-known disease, to create new treatments and specialized care for their children, and to find a cure.
In the ensuing years, the fundraising and commitment of the CF community has enabled the Foundation to support fundamental research in the laboratory that has led to groundbreaking discoveries, including the identification of the gene and protein responsible for cystic fibrosis. By expanding our knowledge of the underlying biology of the disease and its effect on the body, researchers have paved the way for creating new treatments.
The Foundation’s steadfast commitment to advancing CF research has helped enable 12 new treatments for the disease. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of ivacaftor (Kalydeco®), lumacaftor/ivacaftor (Orkambi®), tezacaftor/ivacaftor (Symdeko®), Cayston®, and tobramycin (TOBI®). Since Maddox does not have the double copy of the common mutation, he isn’t on these medications – yet! A few on the list might be something Maddox might be eligible as more trials and testing are being done.
Research by dedicated scientists and clinicians from a wide range of disciplines advances our understanding of cystic fibrosis every day, helping to shape clinical care practices for people living with the disease for years to come. These include studies conducted using patient data in the CF Foundation’s Patient Registry, which are helping us identify trends and track the effectiveness of treatments. Maddox is part of this registry and every time we go to clinic we provide updates and information to be used by the research teams to help.
From bench to bedside, the Foundation is supporting the best research here and abroad to improve the quality of life of people with CF today and accelerate innovative research and drug development to add tomorrows. Two major initiatives have launched recently that will help us in this mission.
In 2018, the Foundation announced that it was committing $100 million to the Infection Research Initiative, a comprehensive approach to improve outcomes associated with infections through enhanced detection, diagnosis, prevention, and treatment. The Foundation also is actively pursuing and funding a broad portfolio of new treatments for other complications of the disease, such as inflammation, excessive mucus, gastrointestinal problems, and cystic fibrosis-related diabetes.
The second major initiative concentrates on people with nonsense and rare mutations who will not benefit solely from CFTR modulators and need an effective treatment for the underlying cause of their disease. The Foundation has thus far committed over $72 million to the Nonsense and Rare Mutations Research and Therapeutics Initiative, a multifaceted effort that already has funded more than 60 projects over the past several years at both academic institutions and pharmaceutical companies. This is where Maddox falls! Both the Milwaukee and Madison CF teams are part of the research teams and the Green Bay team has recently been involved and asking what they can do to help as Dr Pete talked about this in our latest CF appointment. We will know more at our June appointment!