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.
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.
AMRC Releases Annual Research Expenditure Statistics
The Association of Medical Research Charities (AMRC), of which Ataxia UK is a member, has published their annual research expenditure infographic and briefing. New figures show that the medical research charity sector has maintained a collective spend of £1.6bn on research in the UK in 2017 despite a tough Brexit environment. This is nearly half of all publicly funded medical research nationally (47%).
200,000 people in the UK were recruited into over 1,300 AMRC charity-funded clinical studies or trials in 2017 so the AMRC is making a difference for patients too. It is funding essential research in all areas of health and disease and 8% of its funding goes towards neurological conditions such as ataxia.
You can find out more about charity impact in this infographic.
FDA Orphan Drug Designation for Spinocerebellar Ataxia
Biopharmaceutical company, IntraBio, has received an Orphan Drug Designation from the US Food and Drug Administration (FDA) for its lead compound (IB1000) for the treatment of spinocerebellar ataxias (SCA). Although they have only investigated the clinical efficacy of IB1000 in a small number of the over 40 known SCA subtypes, the data was so compelling that the compound was granted a single designation covering all SCAs.
IntraBio have also recently filed this application in the EU, and expect to receive the designation between July and September 2018. The designation has been posted on the FDA website, you can read it here. Read our full article here.
Posted on 15/06/2018
World Orphan Drug Congress 2018 – Washington DC
Ataxia UK was represented by research officer Dr Julie Vallortigara at the World Orphan Drug Congress in Washington DC. The conference programme on rare diseases and orphan drugs and offered an interesting and diverse programme with an overall focus on gene therapy.
Of interest to the ataxias was a presentation by Biohaven on their study using a modified form of Riluzole (called Trigriluzole). A small, 8-week long study reported no significant benefit for patients with. After questioning, Biohaven informed us that they have decided to extend the study to 52 weeks and focus on SCAs for now. They might also look into other forms of ataxias in the future.
To read Julie’s blog about the conference see here.
Posted on 12/06/2018
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