Interview with PhD student and ataxia researcher Wayne Yau

Ataxia UK is funding a project alongside the Spanish organisations R+SCAs (Plataforma de Apoyo a la Investigación de las Ataxias Espinocerebelosas) and ACAH (L’Associació Catalana d’Atàxies Hereditàries), investigating the involvement of DNA repair mechanisms in the modulation of age onset in a range of ataxias.

The project is led by Dr Conceição Bettencourt, Prof Henry Houlden, Prof Paula Giunti and Prof Nick Wood at the UCL Institute of Neurology.

We interviewed PhD student Wayne Yau about his aspirations for the project. Read the full interview here.

Posted on 31/07/2018

New EU Orphan drug designation for Freidreich’s ataxia

Omaveloxolone, a drug put out by Reata Pharmaceuticals, has recently received an Orphan drug designation for Friedreich’s ataxia from the Committee for Orphan Medicinal Products of the European Medicines Agency’s (EMA). This means that Reata now has the Orphan drug designation for Omaveloxolone from both the FDA (US) and the EMA (EU). You can find the press release here about this new designation.

The drug displayed positive effects in an in vitro study (read the press release here and has been further supported by the first part of a 2-part international, multi-centre, randomized, double-blind, placebo-controlled phase 2 trial, referred to as MOXIe. Results from part one of the study have indicated dose and time dependent improvements in those treated with omaveloxolone.

Reata is currently in the process of enrolling about 100 patients with Friedreich's ataxia for part 2 of the MOXIe trial; results are expected in second half of 2019. This drug is the same as the one currently in trials around the world including at the London Ataxia Centre. If you wish to take part you can find more information here.

Posted on 13/07/2018

Hope for gene therapy for Friedreich’s ataxia

This week results were published showing the effects of an AAV (adeno-associated virus) gene therapy in a new mouse model of Friedreich’s ataxia (FA). The mice showed great improvement with this therapy, even after they had developed symptoms, suggesting that at least some of the symptoms of FA may be reversible.

This is very exciting work, with a lot of learnings that will be critical to moving forward with gene therapies for FA. However, the mouse model differs from human patients in many ways, so while this is a very positive indication, the result will not necessarily directly translate to people, and there are many steps to go.

For a full blog article on the trial, and gene therapy click here.

Posted on 11/07/2018

New Friedreich’s ataxia trial started in the US

We reported previously about the pharmaceutical company Takeda having an interest in ataxia and them developing a drug that targets the cerebellum. It is really encouraging to see that this work has now progressed to the human trial stage, and a trial has started testing the effect of their drug, called Tak-831, in people with Friedreich’s ataxia. 

This is a placebo-controlled trial in 65 people with FA for 12 weeks and their main aim is to test the effect on the function of the arms and hands and manual dexterity (using the 9-hole peg test). They will also test a number of other measures.

Ataxia UK has been actively supporting Takeda by providing advice, information on the patient perspective and introductions. We are hoping to hold a meeting of European patient groups soon to assist in the advancement of the programme. You can read more about the trial here

Posted on 11/07/2018