A new research project launched on misdiagnosis and the undiagnosed
The European Organisation for Rare Diseases EURORDIS is doing research for a position paper on the needs of people who are living without a diagnosis, who have been misdiagnosed or who waited a long time to get their diagnosis. They would like to hear from you if you have been affected by misdiagnosis or if your disease is undiagnosed. Please email: email@example.com
The pharmaceutical company Jupiter Orphan Therapeutics, Inc. has joined with Murdoch Childrens Research Institute in Australia with the purpose of eventually gaining approval for a new FA treatment. They aim to develop a more effective delivery system for a drug which utilizes the active ingredient in resveratrol, which has been found to increase levels of frataxin, a protein usually deficient in the cells of people with FA.
The study, carried out by Dr Fanto at King’s College London, will investigate the expression of the mutation associated with DRPLA in areas of the brain where it has the greatest effect. If shown to be significant, this could lead to the development of treatments that protect these brain areas and delay degeneration, potentially aiding other spinocerebellar ataxias in the future as well as DRPLA.