NIHR BioResource plays its part in the quest for a cure for rare condition called Wolfram Syndrome

1 October marks the first ever Wolfram Syndrome Global Awareness Day.

Wolfram Syndrome revised logo

This day will be the 23rd anniversary of the publication of the paper by the late Dr Alan Permutt from Washington University Hospital, St Louis, USA, which first identified the WSf1 gene that causes this syndrome.

The aim of the day is to educate medical professionals and to raise awareness with both the medical world and the public about Wolfram Syndrome (WS), a progressive neuro-degenerative genetic condition that affects 1 in 770,000 people in the UK.

The campaign will target Ophthalmology, Endocrinology and Diabetes specialists, colleges and their global organisations about Wolfram Syndrome as these areas are likely to be the first to see a potential patient affected by this rare condition. They will be sent information informing them of what to look out for. By raising awareness, it is hoped that we may be able to identify currently undiagnosed WS affected individuals or doctors may link the symptoms with a patient they haven’t as yet been able to diagnose properly. A dedicated website for the Awareness day with information for any medical professionals interested, as well as the public will go live on 1 October as well, which will include the disseminated information - https://www.globalwsday.org/

Wolfram Syndrome, also known as DIDMOAD, is an ultra- rare condition that affects 1 in 770,000 in the UK, with about 90 children and adults currently diagnosed in total. It is a progressive life shortening neurodegenerative condition that affects each individual differently; causing vision and hearing loss as well as 2 different types of diabetes. It can also cause other significant medical and neurological complications. There is no cure for WS, but current research is looking hard for a treatment.  WS is one of the 50 plus Rare Diseases projects that the NIHR BioResource is currently recruiting to.

Professor Timothy Barrett, Lead Investigator for the Rare Diseases Wolfram Syndrome project, said: “Families who have taken part in the BioResource have been incredibly helpful in providing their health data, and allowed us to approach them to take part in a clinical trial of a new treatment for Wolfram. Thanks to them, the U.K. has over 20 recruits to an international randomised trial of repurposed sodium valproate to slow down disease progression in Wolfram. This is an ultra-rare disease, and the families in the BioResource have helped us to reach our target of over 60 participants from across Europe. We hope this will lead to the first specific treatment for the condition.” 

Wolfram Syndrome has four main features: Diabetes Insipidus (water diabetes affecting the bladder), Diabetes Mellitus (insulin dependent diabetes), Optic Atrophy (deterioration of the optic nerve which can lead to complete blindness) and Deafness. There is also the possibility of the sufferer having neurological problems, anxiety, depression and loss of gag reflex to name just a few. Tracy Lynch CEO and Co-Founder of WSUK said “As this is such a rare condition with only about 80 people currently diagnosed in the UK, small charities like us often get overlooked and we have to fight hard to raise funds to support our community. By collaborating with other global WS organisations we hope that we can make our collective voices that bit louder to raise funds but also awareness and hopefully find a cure that bit quicker”.

Tracy is also mother to a 19-year-old who was diagnosed with WS in 2010, she added “watching your daughter’s condition progressively get worse as she gets older, knowing there is no cure or treatment is heart-breaking! She never had a normal childhood as symptoms started to show when she was just four years old with hospital investigations nearly every month from the age of five, to try to diagnose her condition which eventually came three years later. Not knowing how much more she will be affected or how long she will be with us means we have to be positive every day and make things as fulfilling and normal for her as we can.”