Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Nicotinamide for the treatment of Friedreich ataxia

Project Coordinator

RWTH Aachen University Hospital


Sylvia Boesch Medical University Innsbruck Innsbruck, Austria
Alexandra Durr Université Pierre et Marie Curie Paris Paris, France
Thomas Klopstock Ludwig-Maximilians-University Munich Munich, Germany
Caterina Mariotti Fondazione IRCCS Istituto Neurologico Carlo Besta Milano, Italy
Francisco Rodríguez de Rivera Garrido Hospital Universitario La Paz Madrid, Spain

Friedreich ataxia is a rare incurable and devastating disease. The clinical phenotype includes poor balance, impaired coordination, difficult articulation of speech and swallowing, distal weakness, deep sensory loss, visual and hearing impairment, but also heart failure, diabetes mellitus, scoliosis and foot deformities. Clinical manifestation normally starts around puberty. There is no cure or treatment that can slow down the disease which frequently results in severe disability by early adulthood. Friedreich ataxia is an inherited disorder caused by Frataxin deficiency. Nicotinamide (vitamin B3) was identified to increase Frataxin expression by an epigenetic mechanism in patients with Friedreich ataxia. This multinational study NICOFA will investigate randomized, placebo-controlled and double-blinded, whether high doses of nicotinamide are an effective treatment for Friedreich ataxia over a study period of two years. Study design and duration and number of patients to be included are based on our natural history data obtained in EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies).

E-Rare 2012 - Created by Toussaint Biger