Although German physician Nikolaus Friedreich first recognized Friedreich’s ataxia in 1863, it was not until 1996 that two scientific teams discovered the underlying cause of the disease: a mutation in the gene for frataxin protein.
As scientists learn more and more about Friedreich’s ataxia, they are able to direct their research efforts to creating treatments that show the greatest possible potential for treating Friedreich’s ataxia. Research into FA is occurring throughout the world. Many New Zealanders with FA have participated in the Friedreich Ataxia Clinical Research Program led by Professor Martin Delatycki at the Murdoch Children’s Research Institute and the Friedreich Ataxia Clinic at Monash Medical Centre in Melbourne.
Studies include evaluation and analysis of neurological and functional MRI measures, cardiac function, gait, speech, vision and ocular motility, hearing acuity, quality of life and sexual function in individuals with Friedreich ataxia.
This comprehensive clinical research program is one of the sites of the Collaborative Clinical Research Network in Friedreich’s Ataxia (CCRN in FA), which is an international network of clinical research groups working together to advance treatments and clinical care. The network collaborates with pharmaceutical companies, government agencies, other research groups and the patient community to facilitate clinical research and trials needed to identify new therapies. (source http://www.fara.org.au/fara-funded-research)
FARA Australia Research
Because Friedreich Ataxia is not as common as other diseases, it attracts limited Government and mainstream research funding. However since 2003, FARA has provided more than $2million in funding to research.
Right now is a time of great breakthroughs in Friedreich Ataxia research. There are nine clinical drug trials in various stages around the world, and recently Dr Helene Puccio (France) used gene therapy to completely reverse the cardiac effects of an Friedrich Ataxia in a mouse. We expect this to lead to human trials in the next 24 months.
FARA funded research
Promising Treatments
Treatment Pipeline (USA)
The Friedreich’s Ataxia Treatment Pipeline is a visual tool for communicating the progress of research and development on lead therapeutic candidates.