In June 2016, the A-T Children’s Project launched the Global A-T Family Data Platform, an effort overseen by A-T families to enable researchers and clinicians to mine large data sets and gain new insights about ataxia-telangiectasia. This rare and progressive neurodegenerative disease affects a variety of systems throughout the body. The data platform collects health, genomic, and other data types about children with the condition.
Though it is still in the early days, the data platform has already demonstrated the impact patient controlled data can have on accelerating new treatments for patients.
Ataxia-telangiectasia (A-T) is an inherited neurodegenerative disease. A child with A-T begins to suffer from progressive loss of muscle control around the age of 2. Children with the condition become dependent on a wheelchair by age ten because of their inability to control their muscles. Their speech also becomes slurred. Reading and swallowing also become difficult.
Most people with A-T (70 percent) will have some degree of immune system problems. Because of a lack of immunoglobulins—natural infection-fighting agents in the blood— many will suffer from recurrent respiratory infections that can become life-threatening. The weakened immune system and the progressive ataxia can ultimately lead to pneumonia as a common cause of death. About 30 percent of children with A-T develop cancers. Because A-T patients have an extreme sensitivity to radiation, they cannot tolerate standard therapeutic levels of radiation or radiomimetic drugs usually given to cancer patients.
There is no cure for A-T, and there is currently no way to slow the disease’s progression. Treatments are directed only toward addressing some symptoms as they appear. Because A-T is a rare disease, little research data is available on pharmaceutical therapies that may aid these children. Physical, occupational, and speech therapy help maintain flexibility, gamma-globulin injections help supplement A-T patients’ immune systems, and high-dose vitamin regimes are used with moderate results.