You've most likely never heard of polycystic kidney disease. It's not commonly heard of, but it affects millions of people over the world. The Teen Magazine had the chance to interview Ms. Lauren Winchester, Director of Projects of the Polycystic Kidney Disease Foundation, to share word of their organizations' mission.
How did the PKD Foundation begin, and what is its mission? What are the goals hoped to be accomplished?
Jared J. Grantham, M.D., and Joseph H. Bruening founded the PKD Foundation on August 20, 1982, to find treatments and a cure for polycystic kidney disease (PKD).
Our mission: We give hope. We fund research, advocate for patients, and build a community for all impacted by PKD. Our vision is to #endPKD.
What would be said to be PKD Foundation’s biggest accomplishment in regard to its mission?
In April 2018, the U.S. Food and Drug Administration (FDA) approved tolvaptan as the first treatment in the United States for adult patients with autosomal dominant polycystic kidney disease (ADPKD), the most common form of PKD. Tolvaptan can slow kidney function decline in adults at risk of rapidly progressing ADPKD. The PKD Foundation supported early studies that led to the development of tolvaptan as a treatment and helped guide PKD patients to the clinical trials.
About Polycystic Kidney Disease
There are two types of polycystic kidney disease: autosomal dominant (ADPKD) and autosomal recessive (ARPKD). ADPKD is one of the most common, life-threatening genetic diseases. In ADPKD, fluid-filled cysts develop and enlarge in both kidneys, eventually leading to kidney failure.
It’s the fourth leading cause of kidney failure, and more than 50% of people with ADPKD will develop kidney failure by age 50. Once a person has kidney failure, dialysis or a transplant are the only options. Unlike some genetic diseases, ADPKD doesn’t skip a generation, meaning it often affects many people in one family.
Approximately 10% of the people diagnosed with ADPKD have no family history of the disease, with the disease developing as a spontaneous (new) mutation. Once a person has ADPKD, even through a spontaneous mutation, they have a 50% chance of passing it on to each of their children. A typical kidney is the size of a human fist and weighs about a third of a pound.
ADPKD kidneys can be much larger, some growing as large as a football, and weighing up to 30 pounds (ca. 14 kg) each. The number of cysts can range from just a few to many. The size of the cysts can range from a pinhead to as large as a grapefruit. ARPKD is a rare genetic disorder affecting approximately 1 in 25,000 children.
It affects both genders equally and can cause death in the first month of life. If a child with ARPKD survives the newborn period, the chances of survival are good. But for these children, approximately one-third will need dialysis or transplantation by the age of 10.
Until FDA-approved tolvaptan became available in 2018, treatment options only controlled the symptoms of PKD. Since then, several treatments have entered into various phases of clinical trials. There are three phases of a clinical trial:
Phase 1 can take several months and tests the safety of the drug among 20 to 100 healthy volunteers. Phase 2 tests the efficacy of the drug in several hundred volunteers and typically lasts two or more years. Usually, one group of patients receives a placebo or standard treatment and the other receives the drug. Phase 3 tests the drug on several hundred to several thousand patients, lasting for five or more years, and is the final stage before FDA approval.
How is PKD Foundation creating opportunities for breakthrough innovations for polycystic kidney disease treatment?
At the time of our founding, little was known about PKD. The genes hadn’t been identified, and only a small number of researchers were working in PKD science. However, just three years later, the chromosomal location of a human ADPKD gene was discovered and understanding of the disease took a major leap forward.
Since 1982, we’ve invested over $50 million in more than 1,300 grants, fellowships, and scientific meetings. Each year, the Foundation identifies and supports the work of scientists and researchers from around the world who look for ways to treat and eventually cure PKD.
On PKD Awareness Day last year, we launched the first nationwide database of patients with ADPKD. With over 1,800 participants to date, the ADPKD Registry will be instrumental in advancing PKD research. It collects information in a standardized and anonymous format — telling us about patient journeys, unmet medical needs, and patient preferences — while revealing more about the disease burden on the lives of ADPKD patients and their families.
How do researchers, clinics, and many other medical components work closely with PKD Foundation to undergo different research and breakthroughs for cures and treatment?
We invest millions in research grants and fellowships. In addition, we established the PKD Outcomes Consortium (PKDOC) in 2010. The PKDOC is a significant collaboration between the PKD Foundation, Critical Path Institute, representatives of the pharmaceutical industry, PKD clinicians, and the FDA. It was created to facilitate clinical development for PKD therapies by establishing a clear regulatory pathway for the pharmaceutical industry to evaluate the effectiveness of potential treatments.
Where do you hope to see PKD Foundation’s organization in 10 years?
We hope to have a cure for PKD in 10 years, and will continue to invest in the critical research needed to get us there.
As someone who is involved and works for the organization, what makes you the most content and proud about your career with PKD Foundation?
Everyone at the PKD Foundation is deeply committed to our vision. Many of us interact with our patient community on a regular basis, so we see firsthand how vital our work is. I’m also proud of how effectively we’ve responded to COVID-19. Our research is moving forward, and we have prioritized providing helpful resources for our community, many of whom are immunocompromised and at a higher risk of COVID-19 complications.
As a primarily Gen Z and young adult magazine, is there a way teenagers can be involved with the PKD Foundation?
Many people don’t know what PKD is. Teenagers could help us raise awareness through social media — we’re on Instagram, Twitter, Facebook, and LinkedIn — and school assignments. They could also participate in our Fundraise Your Way program, join or start a Walk for PKD team, or share their PKD experience with us. We would love to have more Gen Z community members!
Thank you PKD Foundation for the amazing opportunity for an interview. We are very excited to share word of this incredible mission!
Make sure to follow @pkdfoundation on Instagram, and stay tuned to get involved!