Event highlights latest advancements for rare disease research and raises funds for One in a Billion Foundation
CARLSBAD, CA – February 28, 2017 – Agility Clinical, Inc., a specialty consulting and contract research organization (CRO), hosted a special event to increase awareness for rare disease research and to raise funds for One in a Billion Foundation, a non-profit dedicated to supporting patient advocacy for Macrophage Activation Syndrome (MAS), including XIAP and NLRC4. MAS is a potentially life-threatening complication of several chronic rheumatic diseases.
The event took place at BIOCOM in La Jolla, CA on February 2, 2017, and featured Nicholas Volker, the first child saved by DNA sequencing, which identified the underlying cause of his MAS — a one in a billion genetic mutation diagnosis — and ultimately led to his life-saving treatment. He and his mother, Amylynne Santiago Volker, shared their profound journey at the event. Nic and his mother illustrate the impact of whole genome sequencing on the lives of children affected by rare diseases.
“Nic spent the majority of his life in hospitals between the ages of 2 and 6,” says Amylynne Santiago Volker. “He endured over 100 surgeries, feeding only by IV infusion, chemotherapy, life threatening infections, off-label treatments, and much more before doctors finally sequenced his genome, found the underlying cause of his condition, and ultimately proposed the proper treatments that saved his life.”
Also at the event were recognized experts in rare diseases including Stephen Kingsmore, MD, DSc (President/CEO, Rady Children’s Institute for Genomic Medicine, San Diego), David Dimmock, MD, (Medical Director, Rady Children’s Institute for Genomic Medicine, San Diego), Marlene Haffner, MD, MPH (Former Director, FDA Office of Orphan Products Development), Jacqueline Blem (Sr. Director, Project Management, Agility Clinical, Inc.).
“Put simply, our team’s mission is to avoid the arduous medical odyssey and needless suffering experienced by Nic and other children with rare diseases,” says Dr. Kingsmore, President/CEO, Rady Children’s Institute for Genomic Medicine, San Diego, and holder of the Guinness World Records title for fastest genetic diagnosis. “We now have the capability to rapidly diagnose genetic diseases in children and guide them to the right treatments quickly.” Founded in 2014, Rady Children’s Institute for Genomic Medicine has a goal of making rapid whole genome sequencing part of the standard of care for sick children.
Specializing in rare diseases and complex research trials, event host Agility Clinical works closely with pre-clinical and clinical stage biopharmaceutical companies.
“We at Agility have always had a strong focus on the lives of patients who are afflicted by rare disorders, so we were thrilled that Amylynne and Nic could attend our event and share their story,” says Ellen Morgan, CEO of Agility Clinical. “Sadly, Nic’s story is one that is shared by many rare disease patients and their families. What Dr. Kingsmore and his team are now able to do with genomic medicine is going to dramatically impact the lives of these families for the better. It’s very exciting.”
About rare diseases: A “Rare disease” is one that affects fewer than 200,000 Americans or less than 1 in 2000 people in Europe. Rare diseases affect one in 10 Americans, 30 million people in the United States, and 300 million people globally. Of the approximately 7,000 identified rare diseases, less than 500 have an FDA-approved treatment available. Many have genetic origins and more than half of those affected are children. It is estimated that more than 50% of those affected by rare diseases are children, making rare diseases the most deadly and debilitating diseases for children worldwide. For patients, getting a diagnosis can become a quest. Too often, patients are confronted with a lack of treatment for their condition. Biopharmaceutical companies working on bringing orphan treatments to patients face many challenges as well, from regulatory strategy to planning and conducting successful clinical studies.
About Agility Clinical: Agility is a niche clinical research organization (CRO) focused on the needs of pre-clinical and clinical stage companies and specializes in rare disease and complex trials. The Agility team has an extensive track record conducting trials and preparing data for regulatory submissions leading to product approval. Founded in 2012 by an experienced executive team and employee-owned, Agility won the ROAR (Rare and Orphan Advocacy and Research) award for best CRO for two consecutive years. Our team is experienced, efficient and dependable, yet creative and committed to our clients and the patients they are trying to help. Agility has established operations in Carlsbad, CA. For more information, visit www.agility-clinical.com. For more information on the event, please visit www.agilityrarediseasefund.org.