A large, international clinical trial sponsored by European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) is currently recruiting 650 patients with genetically confirmed Friedreich’s Ataxia to benefit future research efforts through data acquisition and validation. “Patient Registry of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS)” involves twelve recruiting locations and eleven principal investigators dedicated to this observational, prospective trial.
The benefit of this trial will be the creation of a Friedreich’s ataxia database of biological samples and records to be used in future study efforts aimed “to advance scientific knowledge towards establishing clinically effective treatments that delay onset and/or slow the progression of the disease,” according to the trial design.
Throughout the trial, patients with Friedreich’s Ataxia will receive a clinical examination that involves collection of whole blood and urine. Healthy participants will also donate blood and urine so that control samples can be used in analyses. From these samples, DNA, serum, EDTA, and citrate blood will be retained for future investigations. In addition to biological sample collection, the recruiting centers will conduct general clinical, motor function, cognitive, and Quality of Life assessments. Patients will be followed annually for a maximum of four years.
Creating the registry will be a four-year process, but at the end, researchers who are involved in the EFACTS network will have access to a plethora of data and samples. In order to obtain these data, proposed projects must be approved by the EFACTS Steering Committee, who looks for clinically relevant outcomes. Such clinically-relevant studies may be geared towards developing new treatments for Friedreich’s ataxia.
Among some new treatments for Friedreich’s ataxia or disorders commonly affecting Friedreich’s ataxia patients are interferon gamma-1b and VP 20629. Another application of the database is finding biomarkers in serum from patients with Friedreich’s ataxia. Diagnostic parameters, as well as new treatments, can be generated from such biomarker panning studies.