Research study is open to participants worldwide to advance understanding and treatments for rare organic acidemia disorders
Golden Valley, Minn. and Danbury, Conn., April 19, 2017 —The Organic Acidemia Association has launched the largest-ever study to research rare organic acid disorders that cause multiple life threatening conditions. Currently there are no cures for organic acidemia disorders.
“The OAA Natural History Patient Registry will provide a complete picture of each patient’s experience with a variety of different organic acidemias,” said Kathy Stagni, Executive Director, Organic Acidemia Association (“OAA”). “We are launching this initiative to help fill the missing link researchers and medical experts need to advance research, improve treatment and discover a cure.”
To help drive awareness and participation, the Organic Acidemia Association will contact families who initially showed interest at the OAA family conference last year. Plans are to post to social media (Facebook and Twitter) to invite families to participate.
“Our goal is to enroll as many patients, or their parents or legal guardians, as possible,” said Stagni. “The success of the registry is dependent upon community participation.”
The OAA Patient Registry is a natural history study that consists of electronic surveys to collect information about the patient experience and disease progression. Patients, or their caregivers or guardians, can enter information from anywhere in the world. The data are anonymous and stored securely in an online portal called a registry. The Organic Acidemia Association may share the data but not personal identifying information with individuals or institutions conducting research or clinical trials, subject to approval by the study’s governing board that includes scientists, doctors and patient advocates.
The Organic Acidemia Association is launching the study in collaboration with the National Organization for Rare Disorders (NORD), an independent charity that built a natural history study platform as part of its mission to help identify and treat all 7,000 rare diseases. Funding is supported by a cooperative agreement between NORD and the U.S. Food and Drug Administration (FDA). The FDA has praised NORD’s program as a helpful tool “that protects the security and privacy of personal information, while making valuable information available to a researcher or drug developer interested in creating a new therapy for a rare disease.”1
NORD President and CEO Peter L. Saltonstall said, “NORD’s natural history studies platform empowers patients and families to drive research and eliminate some of the unknowns that still exist in rare diseases. We are glad to be working with our Member Organization on this project and thank the FDA for its support and ongoing commitment to help people with rare diseases.”
Organic Acidemias are a group of inheritable genetic metabolic disorders in which an essential enzyme that is necessary for protein metabolism is absent or malfunctioning. This defect results in a buildup of chemicals, usually acids, on one side of the metabolic blockage and a deficiency of vital chemicals on the other. This causes an over dosage of one chemical (often toxic) and a shortage of another which is essential to normal body functioning.
For more information, visit http://www.oaanews.org/.
About The Organic Acidemia Association (OAA)
We are a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders
About the National Organization for Rare Disorders (NORD)®
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 260 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community. www.rarediseases.org.
1 Woodcock, J. “The more we know about rare diseases, the more likely we are to find safe and effective treatments.” FDAVoice (Oct. 23, 2014)