New research that stemmed from a collaboration between the London Ataxia Centre and the Children’s Hospital of Philadelphia has identified the raise of a protein called NfL, as a potential early biomarker of Friedreich’s ataxia (FA). The study was funded by the US organisation Friedreich’s Ataxia Research Alliance (FARA) and the Biomedical Research Centre at University College London Hospitals.
Biomarkers are very relevant for clinical trials. A biomarker is a measurable characteristic that reflects the clinical condition. When drugs are tested in clinical trials, we need reliable biomarkers as a measure of whether the drug is effective or not. Biomarkers are also used as a measure of progression in conditions like FA.
NfL, or Neurofilament Light Chain, is a protein that is released into the cerebrospinal fluid (CSF), which is the fluid surrounding the nervous system, connecting it to the blood. In order to assess whether NfL could be a useful biomarker for FA, the researchers measured NfL levels in blood (plasma) from 187 people with FA and 127 people without a neurological condition (controls). People with FA were recruited from two natural history studies where the progression of FA has been studied (EFACTS in Europe and FACOMS in the US).
The researchers found increased levels of NfL in the plasma of people with FA compared to people that do not have FA. They conclude that NfL is a sensitive biomarker in younger people with FA. However, they saw that the difference in NfL levels decreased over the age of 40. This means that whilst NfL could be used as a marker of FA progression, or in clinical trials, this age-dependent pattern would have to be carefully considered.
A greater understanding of how NfL levels are increased in FA is required, and it is likely that NfL would need to be used as a biomarker in combination with other measures of FA progression.
Prof Paola Giunti, Consultant Neurologist at the London Ataxia Centre at the National Hospital for Neurology and Neurosurgery, and UCL Queen Square Institute of Neurology, who was involved in the research, reflects,
“We are really excited about the results of this research project that indicates that Nfl could be a useful measure for clinical trials in Friedreich’s ataxia, measuring the effectiveness of a drug. We are in debt to all our patients who were willing to participate to this research exercise, and we highly value their contribution.”
A paper was recently published on this research in the Movement Disorder Journal, which you can read here.
