(NaturalNews) Vitamin B3 may be a miracle treatment for the genetic childhood disease Friedreich's ataxia -- which currently has no treatment or cure -- according to a study conducted by researchers from Imperial College London, University College London and the National Institute for Health Research (NIHR)/Wellcome Trust Imperial Clinical Research Facility, and published in the journal The Lancet.
The study was funded by the NIHR Biomedical Research Centre, the European Friedreich's Ataxia Consortium for Translational Research, and four European ataxia charities.
"We are really proud to have supported the basic science for this hugely exciting trial and to have moved the research forward to a human trial with such positive early findings," said Sue Millman, CEO of Ataxia UK.
"This study was a truly collaborative effort involving ataxia charities in four countries and a number of other funding bodies all recognizing the importance of the study. We now need to push forward towards a larger trial which we hope can eventually be translated into a treatment for patients. That is our goal."
Vitamin changes gene expression
Friedreich's ataxia is an inherited, progressive disease that leads to the degeneration of speech and movement. It occurs most often in childhood and typically results in patients being able to move about only by wheelchair within 10 to 20 years, with complete incapacitation eventually following. There is no known cure or even treatment for the disease, and patients require lifelong assistance just to get their basic needs met.
The disease is caused by a partial inactivation of the gene responsible for producing a protein called frataxin. Prior studies by Richard Festenstein, the lead researcher of the new study, had suggested that a form of vitamin B3 known as nicotinamide could reactivate the frataxin gene in cells taken from Friedreich's ataxia patients, leading to an increase in frataxin levels.
In the new study, researchers tested nicotinamide on living Friedreich's ataxia patients for the first time. Participants were given increasing doses of the vitamin, which was found to be well tolerated. The researchers found that, after two months of taking daily nicotinamide supplements, patients' frataxin levels increased to levels typically found in asymptomatic Friedreich's ataxia carriers.
The vitamin B3 doses used were much higher than those found in typical vitamin supplements.
"These results are very encouraging and importantly offer the prospect of a future treatment for this incurable condition," Festenstein said.
"The study is also exciting because it provides proof-of-concept that aberrant gene silencing can be overcome in humans using an 'epigenetic modifier'. This opens the way to a radical approach for other disorders caused by a similar mechanism."
Working toward a cure
"Finding a cure for Friedreich's ataxia is what every researcher in the field dreams about," researcher Vincenzo Libri said. "We're absolutely thrilled by our preliminary results and the hope it offers for the future of patients with this devastating condition and their families. Our results help us understand the key elements of how nicotinamide may work and are important for translating the research from the laboratory into a clinical treatment."
The researchers and funders of the study emphasized that further research will be needed to confirm the results or turn them into an actual treatment.
"We are excited by the prospects of nicotinamide potentially being developed into a treatment but it is important to remember that we still need to conduct further trials to confirm the safety over a longer time and to see whether the increase in Frataxin actually results in improvements for patients," researcher Paola Giunti said. "We are extremely grateful to all the patients who have taken part in this important pilot trial."