Making the RARE voice heard
BioData World Congress EU 2018
28th – 29th November 2018
Congress Centre Basel
BioData World Congress transpiring on the 28-29th November in Basel is the worlds-leading event for individuals working within Big Data and AI in life sciences and healthcare research. to drive forwards big data use in Pharmaceuticals.
The event was originally created with the support of leading institutes such as EMBL-EBI, Genomics England, Sanger Institute and the NHS and has since been commissioned by Roche and Merck along with others. Biodata brings together global heads of IT, data, analytics, digital, CDOs, CIOs, bioinformatics, genetics, oncology, rare disease, computational biology, translational medicine etc from leading pharmaceutical companies. BioData takes place over 12 tracks this year, including: Storage, IT and Management, Bioinformatics, AI and Machine Learning, Big Data in Cancer, Data Integration & Infrastructure, Big Data in Rare Diseases, Analytics Platforms and Data Sets, Next Gen Sequencing, Data Management, Genomics in Clinical Trials, Real World Evidence and Precision Medicine along with a Hackathon and two Start up Streams.
We have moved the 2018 edition to Basel as the Canton of Basel-Stadt are investing in the event long term. This will put us on the doorstep of a number of leading industry individuals such as Novartis and Roche.
There will be 200 speakers and 700+ attendees. In terms of speakers 70% will be pharma, 20% research institutes, 10% Academia. 70% of the attendees will be European based, 20% US and 10% rest of world.
The Biodata World Congress presents a lucrative opportunity for you to meet new customers and to grow your client base as you benefit from being able to sell to both our buy-side and sell-side audience.
Bertrand Bodson, Chief Digital Officer, Novartis
Sue Hill, Chief Scientific Officer, NHS England
Philippe Marc, Global Head of Integrated Data Sciences, Novartis Institutes for BioMedical Research (NIBR)
Diego Ardigo, Global Head of Rare Diseases, Chiesi
Vikram Bajaj, Managing Director, Forsite Capital Management, Former CSO Grail, Co-Founder, Verily (Google Life Sciences)
Ian Pepper, CTO/Head of Strategy and Integration Architecture, Novartis
Peter Speyer, Global Head of Real World Evidence Solutions, Novartis
Dirk Voelkel, Chief Technology Officer, GE Healthcare
Slavé Petrovski, VP and Head of Genome Analytics, AstraZeneca
Govinda Rao Bhisetti, Principal Investigator and Head of Computational Chemistry, Biogen
If you are interested in attending, make sure to register today and benefit from the 10% partner discount. Simply use the voucher code LRYB when you register online https://bit.ly/2BzlOyI
Launched in 2017 by independent not-for-profit publishers NRG Collective Ltd, creators of Rare Revolution magazine, this annual programme works with the young rare community to ensure their voices are heard through the creation of their own dedicated Youth Magazine.
Giving complete control of topics, assignments and design to the young editorial team The Rare Revolution Team in collaboration with the RareTogether project support all aspects of their journey to support the successful launch of their final publication.
The 2017/18 Youth Team out and about on assignment
We are proud to continue our support of this great initiative, as part of Sobi’s commitment to the rare disease community. It is wonderful to see such a brilliant 2017/2018 Rare Youth issue of the magazine, and to hear from the vital and vibrant young voices which make up the community. We would encourage as many young people as possible to get involved in the coming year, to share their stories, and continue to build on the success of the #RareYouthProject
Neil Dugdale, General Manager, SOBI UK and Republic of Ireland
The #RareYouthProject recently celebrated Great Ormond Street Hospital hosting the 2017/18 Rare Youth Edition through all 415 of their bedside interactive screens allowing an extra 40,000 young people each year to have access to this resource.
“The project’s aim is not purely about ‘powering up young voices’ but also provides participants with valuable real-life work experience often not available to young people with complex health needs as well as an opportunity to meet other young people who share their challenges. We are thrilled to have Sobi’s support with our 2018/19 project.” Rebecca Stewart CEO NRG Collective Ltd.
The 2017/18 Rare Youth Issue can be read by clicking the front cover below.
If you would like to find out more about supporting this year’s #RareYouthProject please contact Rebecca on firstname.lastname@example.org
About NRG Collective Ltd.
An independent not for profit company NRG Collective Ltd are dedicated to making rare voices heard. Through their free publications Rare Revolution and the Rare Youth Edition they are raising awareness and providing valuable information for the whole rare disease community.
Sobi is an international rare disease company dedicated to providing access to innovative treatments that make a significant difference for people with rare diseases. We have two business areas: Haemophilia and Specialty Care. Our research and product portfolio is primarily focused on haemophilia, inflammation, and genetic and metabolic diseases.
The United Kingdom and Republic of Ireland team is based in Cambridge and have been rated as the best company in Haemophilia in the UK through an annual independent survey in 2016 and 2017 and one of the UK’s great places to work in 2017.
Rare Youth 2017/18 Political Correspondent Cameron is rewarded for bravery with national WellChild Award
Cameron, aged 16, who has a rare form of Muscular Dystrophy and other conditions, was picked from hundreds of nominations from across the UK to win the category of Inspirational Young Person in these awards which celebrate the courage of children coping with serious illnesses or complex conditions and honour the dedication of professionals who go the extra mile to help sick children and their families. The awards are run by WellChild, the national charity for seriously ill children.
Cameron will be one of the stars of the show at September’s high profile Awards ceremony, which has been attended over the past few years by Royal Patron, HRH The Duke of Sussex and many of the charity’s celebrity supporters.
Since the moment he was born Cameron has been a fighter. At birth his prognosis was not good. He was not expected to live long and even if he survived he would not be able to walk, talk or eat. But he started doing all the things some medical professionals said he would never do, he also battled illness after illness but came through every time.
Cameron has since gone from strength to strength but when he was 11 he suffered a breakdown which has left him with severe OCD and anxiety. Cameron has also recently been diagnosed with a rare form of autism. However he is battling on and has achieved so much, although school and education is incredibly challenging for him he never gives up.
He is a junior political editor for Rare Revolution magazine (youth edition) which launched in March and has been to both Scottish and English Parliament to interview Nicola Sturgeon and Andrew Bowie MP. He has a passion for war history and he also plays Power Chair football for The Villa Rockets. With the right support, he hopes to go to college to do computer game design or political journalism.
Cameron’s mum Nikola Trevalyan-Blake who nominated him for the WellChild Award, said: “He’s funny, courageous, clever and determined and I could not be more proud. I so want him to see and believe how very special he is and have that belief in himself and realise just how far he has come and should be so proud of what he has achieved and gone through.”
Speaking at the 2017 WellChild Awards, The Duke said: “These awards were created to shine a bright light on an amazingly brave group of children and young people, on their lives, and on the resolve they and their families have shown to overcome challenges. Life for families caring for seriously ill children is exceptionally tough. And without WellChild it is even tougher.
“Over the years, the WellChild Awards has played a huge part in highlighting what these families need, and the support that is desperately needed to meet the ever-increasing demand.”
With hundreds of nominations received from across the country, the difficult job of choosing winners in all WellChild Award categories is given, each year, to an esteemed panel of judges. That panel consists of leading health professionals and others with an interest in children’s health and includes children and young people who face serious illness themselves.
These awards were created to shine a bright light on an amazingly brave group of children and young people, on their lives, and on the resolve they and their families have shown to overcome challenges.
Royal Patron, HRH The Duke of Sussex
WellChild’s Director of Programmes, Linda Partridge, is also a member of that panel. She said: “It is a tremendous challenge to select winners from the many, many truly amazing nominations we receive from all over the country. All the panel members are moved by the bravery of the children, the stories of selfless care and support and the dedication of the doctors, nurses, teachers, brothers and sisters who make a great difference to the lives of seriously ill children and young people. Cameron truly deserves to be the winner of this award.
“The Awards, in association with GSK, are a perfect demonstration of WellChild’s commitment to helping as many seriously ill children and their families as we can and embody our aim of raising awareness of their needs.”
Cameron will receive his award at the annual WellChild Awards ceremony in London this September. At this star-studded event, Cameron will meet a host of WellChild celebrity supporters, who attend each year to celebrate the courage of brave children and honour the dedicated work of the country’s health professionals. In addition to HRH The Duke of Sussex, previous WellChild Award evenings have been attended by Rapper Stormzy, Magician Dynamo, rock legend Rod Stewart with his wife Penny Lancaster Stewart, comedian Russell Howard, pop singer Pixie Lott, actress Barbara Windsor, pop band Scouting for Girls, Dragon’s Den star Duncan Bannatyne and many more.
WellChild is the national charity for seriously ill children, committed to improving the quality of life for children across the UK with serious illness, or exceptional health needs.
Many of these children spend months, even years in hospital simply because there is no support enabling them to leave. WellChild exists to ensure they are given the best chance to thrive – at home, together with their families.
The charity, which has Prince Harry as its Patron, funds numerous programmes aimed at ensuring that children can be cared for at home with their families wherever possible:
For more information, please see www.wellchild.org.uk
Chris Hill – WellChild
Tel: 01242 530007
Isobel McFarlane – WellChild
Tel: 07803 906816
Email: email@example.com / firstname.lastname@example.org
A science-led global healthcare company with a special purpose: to help people do more, feel better, live longer.
We have three world-leading businesses that research, develop and manufacture innovative pharmaceutical medicines, vaccines and consumer healthcare products.
Our goal is to be one of the world’s most innovative, best performing and trusted healthcare companies.
GSK media enquiries – 020 8047 5502.
The #RareYouthProject is an initiative run by NRG Collective Ltd a not for profit independent publisher specialising in rare disease publications, education, signposting and community building. The #RareYouthProject involves children and young people affected by rare disease in the creation of their very own magazine.
“This very special issue no. 1 is the creation of a team of 10 young people all passionate about having their voices heard. Young people affected by rare disease spend a lot of time having other people make decisions about them when it comes to their health and their own bodies and this outlet has been a wonderful way for these young people to gain some control and talk about the issues that are important to them” Rebecca Stewart CEO NRG Collective Ltd.
“Our pilot team met in early 2017 to discuss the direction of the magazine and plan their dream assignments. We were amazed by the depth of the subjects they wanted to cover. With interviews with Government leaders, celebrities and Pharmaceutical leaders on their list, we had to work hard to make this a reality for them. I cannot tell you how proud we are of each and every young person who contributed.
“The finished magazine is outstanding and testament to the hard work and passion that each member of the youth editorial team put into the project.” Nicola Miller Creative Director and Youth Co-ordinator.
The project’s aim is not purely about “powering up young voices” but also provides participants with valuable real-life work experience often not available to young people with complex health needs and an opportunity to meet other young people who share their challenges.
Rebecca Stewart explains “Very early on our pilot team identified isolation and lack of meaningful work experience as significant challenges that they wanted this project to mitigate against. Through joint assignments, mentoring, team meetings and a dedicated youth event we were able to significantly work towards this. Many of our team will be staying on to become youth mentors, contributors and bloggers for next year’s project and several have formed friendships which have lasted outside of the project.”
With GOSH providing access to #RareRevolution, thousands of children admitted each year will now be able to enjoy the free publication for young people by young people. "
We hope that this year’s team will be bigger and better and that the #RareYouthProject will be powering up young voices for years to come
Nicola Miller Creative Director and Youth Co-Ordinator
Join the #RareYouthProject
If you are a young person aged between 8 and 23 years old and would like to find out more about being involved in this year’s project email Nicola on Editor@rarerevolutionmagazine.com
If you would like to find out more about sponsorship opportunities with the #RareYouthProject contact Rebecca on email@example.com
About NRG Collective Ltd.
An independent not for profit company NRG Collective Ltd are dedicated to making rare voices heard. Through their free publications Rare Revolution and the Rare Youth Edition they are raising awareness and providing valuable information for the whole rare disease community.
One of the first patients to sign up to the 100,000 Genomes Project has received a diagnosis for his rare genetic condition after years of speculation.
The family of Alex Masterson, 19 from Rochester in Kent, discussed the benefits of his correct diagnosis as the Department of Health and Social Care, NHS England and Genomics England announced that the project has reached its halfway point, with 50,000 genomes now sequenced from patients across the country.
Through the years Alex has had 28 operations including the removal of multiple benign tumours, several bouts of heart surgery, stomach surgery, dental work and operations on his feet.
His mum Kirsty, 46, said: “Although Alex ticked many of the boxes for Noonan syndrome, he did not have a mutation in the genes usually known to cause the condition so we never knew exactly what he had. It was very difficult in the early years because we wanted to know what it was so that we could prepare ourselves and deal with it.”
Dr Melita Irving, consultant clinical geneticist at Guy’s and St Thomas’, told the family about the 100,000 Genomes Project in 2014 and they enrolled Alex straight away.
The project involves sequencing 100,000 genomes from people who have a rare disease or cancer. Your genome is your body’s instruction manual. It is made up of DNA and there is a copy in almost every cell. The aim of the project is to create a new genomic medicine service for the NHS – transforming the way people are cared for.
Kirsty, who works in a bank, said: “It was a complete no brainer to join the project because it was finally an opportunity to get an accurate diagnosis for Alex.”
Sequencing of his genome revealed that Alex has a related rare genetic disorder called Leopard syndrome, also known as Noonan syndrome with multiple lentigines (NSML).
Kirsty, a mother-of-two, continued: “I cried when we got the diagnosis because it was such a relief to have an answer. Although it won’t change his life expectancy or treatment options, it has given us closure after spending so many years wondering and might help other people in the future.
“If Alex had been able to have the test as a baby we could have been prepared for what was to come and avoided years of diagnostic tests and uncertainty.”
Alex recently started an internship as a support worker at an activity centre for adults who require support.
He said: “I really enjoy the job and have been able to prove to people that I have lots of skills and can do it with my head held high.
“The diagnosis has helped my parents a lot because it’s been very hard for them to watch me going in and out of hospital not knowing the cause behind it. For me, it’s all just a part of my life.”
Dr Irving said: “We had reached the limits of the genetic tests available and we still had no answers for Alex and his family as to why this was happening to him, so when the 100,000 Genomes Project came along we leapt at the chance to enrol Alex.
“The project is transforming genetic testing in the NHS, not just for families with a rare disease like Alex, but also for people with cancer and other medical conditions, helping to inform decisions about the most effective treatment for them.”
Thirteen Genomic Medicine Centres (GMCs) have been established by NHS England since 2014 to help deliver the 100,000 Genomes Project.
Guy’s and St Thomas’ NHS Foundation Trust leads the South London GMC, which involves King’s College Hospital NHS Foundation Trust, South London and Maudsley NHS Foundation Trust and St George’s University Hospitals NHS Foundation Trust.
The South London GMC has partnered with Royal Surrey County Hospital NHS Foundation Trust, Frimley Health NHS Foundation Trust and Maidstone and Tunbridge Wells NHS Trust to cover the population of south London, Kent, Surrey and Sussex.
So far, the South London GMC has recruited more than 7,000 people to the 100,000 Genomes Project and is one of the highest recruiting GMCs in the country.
For more information about the South London GMC, visit southlondongmc.nhs.uk
Myalepta®▼ Approved in Europe : the First Treatment Indicated for Patients with Ultra-Rare Disease, Lipodystrophy
Myalepta is a treatment for the ultra-rare condition, lipodystrophy, and has been approved as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in lipodystrophy patients. With this authorisation, Myalepta becomes the first and only licensed medication to treat the underlying leptin deficiency at the heart of this ultra-rare condition.
Professor Sir Stephen O’Rahilly, Professor of Clinical Biochemistry and Medicine at Addenbrooke’s Hospital, Cambridge, said, “Lipodystrophy is a rare condition which, due to its complex nature, requires highly specialised treatment. Patients with lipodystrophy have previously relied on lifestyle changes and medications, like insulin injections to manage the condition’s associated complications. Today’s milestone marks a significant change in the way lipodystrophy is treated. For the first time, we will be able to offer patients in Europe a treatment option that addresses one of the fundamental aspects of the condition itself.”
For the first time, we will be able to offer patients in Europe a treatment option that addresses one of the fundamental aspects of the condition itself.”
Professor Sir Stephen O’Rahilly, Professor of Clinical Biochemistry and Medicine at Addenbrooke’s Hospital, Cambridge
Rebecca Sanders, Founder and Chair of Lipodystrophy UK, said, “Lipodystrophy presents multiple ongoing challenges, both physical and psychological, to individuals living with the condition. Current available treatment options have been limited, address only some of the complications of the condition and are not specialised for lipodystrophy. Myalepta offers a long-term solution for patients and we are delighted that there is now a treatment available specifically to treat the complications of leptin deficiency in lipodystrophy which will give patients a much needed option to help improve both their disease and their quality of life.”
Rebecca Sanders, Founder and Chair of Lipodystrophy UK
Lipodystrophy is an ultra-rare and incurable disease which impacts a person’s ability to store fat in their body, and can either be generalised (GL) or partial (PL).[i] The condition is associated with a number of critical metabolic problems, such as severe diabetes, and can cause severe organ damage if uncontrolled.[ii] Globally, lipodystrophy affects approximately between 1 and 4 people per million.1
Paul Greenland, President EMEA at Aegerion Pharmaceuticals, said, “We are thrilled that patients with lipodystrophy in Europe will now have a specific treatment option. This also represents an exciting time for Aegerion as Myalepta becomes available in one of the largest global pharmaceutical markets. We will work collaboratively with patient organisations, health care professional and health services across Europe to enable access to as many patients as possible
[i] Chiquette, E., et al. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes, 2017. 10: p.375-383.
[ii] Pope, E., et al., Childhood acquired lipodystrophy: A retrospective study. Journal of the American Academy of Dermatology, 2006. 55(6): p. 947-950.
Edinburgh is the most accessible region in the UK for disabled motorists when it comes to refuelling at petrol stations, according to new figures.
The city district has, per head*, the highest number of petrol stations signed up to a unique wireless key fob service which enables drivers to call for assistance from their car.
The ‘MyHailo’ system, which is endorsed by the charity Disability Motoring UK, enables drivers with mobility problems to avoid the humiliation of having to blast their horn or wave out of the window to summon an attendant, or even being verbally abused by other drivers.
Users can easily identify petrol stations in their area through an interactive map and the specially-designed fob allows them to ask for assistance without leaving their vehicle. A beacon in the petrol station kiosk allows drivers to clearly see staff have acknowledged their call and that help is on its way when the light turns from red to green.
There are almost 500 petrol stations nationwide which have the MyHailo system installed and include locations at major retailers such as Asda, Sainsbury’s, Tesco and BP.
Edinburgh (with 1 MyHailo per 46,106 people) tops the table of city districts and counties with Bristol second, Somerset third, Shropshire fourth and County Durham fifth.
There are almost 500 petrol stations nationwide which have the MyHailo system
“Concerns about how to fill up the car can stop disabled drivers going out and can impact on their independence,” says Ran Meyrav head of business development for assistive technology firm Contacta which makes MyHailo. “They’ve also told us about the abuse they receive from other motorists for taking much longer to get help or to struggle out of the car to the pump.
“There are apps on the market that offer a similar service but with them you have to worry about whether you have any signal or charge on your phone, and you may still have to phone ahead to let them know you’re coming. With MyHailo you can always be confident you’re driving to a garage that will help you.”
Ian Oakley, 60, from Coventry has Charcot Marie-Tooth, a progressive neuro-muscular condition which means he needs to use a wheelchair.
“Before I had MyHailo I would have to flash my lights and sound my horn to get someone in the kiosk to notice my car,” he said. “I would get plenty of strange looks from other drivers; some of them would shout at me asking me why I wasn’t moving and I’ve been sworn at many times.
“Worrying about how and when I would be able to fill up did stop me travelling too far. MyHailo works and it works well. It has taken so much stress away.”
45 year old Mona Patel from Greater Manchester has been driving an adapted car since her late 20s because of GNE myopathy, a very rare muscle disease. Before using MyHailo she wouldn’t drive far unless someone could go with her to fill up the car.
“Putting diesel in the car by myself can easily take 20 minutes,” she said. “I have to open the automatic ramp at the rear of the car, disengage my wheelchair, manoeuvre to the pump, struggle to lift the fuel dispenser, which I find very heavy, and even then I can only put in about £5 worth before I get cramp in my hands.
“People give me impatient looks or honk their horn at me to hurry up. I have to wave my Blue Badge at them to make them understand. The MyHailo system is a far more dignified way for me to refuel and the forecourt staff are so helpful. Thank goodness for MyHailo!”
There are an estimated 1.9 million licensed disabled drivers in the UK and around 400,000 adapted vehicles. Ran Meyrav hopes the new figures released by Contacta will encourage many more to get on the road.
MyHailo is endorsed by Disability Motoring UK.
The MyHailo key fobs are available for a one-off cost of £19.95 from:
Contacta enhances customer service by creating and installing a unique range of assistance solutions, including hearing loops, speech transfer products, disability refuelling assistance and secure transfer units. www.contacta.co.uk
For further information please contact Lisa Pettifer
Company Expands Services to Provide Holistic Care for Hemophilia Patients and Caregivers
Frisco, Texas (May 30, 2018) – US Bioservices, a specialty pharmacy and part of AmerisourceBergen, has contracted with MedImpact, an independent, trend-focused pharmacy benefit manager, to dispense specialty prescriptions under the MedImpact Direct Specialty™ program. Under the program, US Bioservices is incorporating the use of myCubixx® temperature-controlled product storage devices for haemophilia patients – a first-of-its-kind offering for commercially-insured patients outside of the clinical trial setting.
As part of the MedImpact Direct Specialty program, myCubixx® allows for convenient, secure and monitored in-home storage for temperature-sensitive medications for MedImpact members. Instead of storing therapy in a home refrigerator that may have limited space and temperature variability, patients can store their treatments in myCubixx®. The unit, which records bleed information and dosage when opened, helps maintain optimal inventory levels and provides real-time data to the patient’s care team and payer, ultimately lowering overall costs for treatment.
With myCubixx®, US Bioservices helps haemophilia patients and their caregivers better manage their illness. The collaboration enhances clinically-coordinated patient care through real-time utilization management and improved inventory control that ultimately lowers healthcare costs.
“While there is no cure for haemophilia, patients can lead long, healthy lives with proper treatment, education and support,” said Kevin James, Vice President Payer Strategy, US Bioservices. “Through our work with MedImpact Direct, we create a seamless patient experience that combines treatment with individualized education and support for those who rely on us most – patients battling lifelong chronic illnesses.”
Providing “best-in-class” pharmacy support for haemophilia patients requires a multidisciplinary approach to care, with involvement from pharmacies, infusion nurses, haematologists, physical therapists and nurse educators. In recognition of this, US Bioservices operates a Haemophilia Center of Excellence for MedImpact members that:
“We are proud to work with US Bioservices to offer best-in-class treatment, education and support services for our members affected by haemophilia,” said Greg Watanabe, President and Chief Operations Officer for MedImpact. “By collaborating with US Bioservices, we are better able to help support our members’ adherence to therapy, which leads to improved condition management and quality of life.”
Haemophilia is a genetic condition in which patients lack a specific clotting factor in their blood. There are two main types of inherited haemophilia: A and B. In haemophilia A, factor VIII is deficient, and in haemophilia B factor IX is deficient. The amount of clotting factors in the blood determines if one has mild, moderate or severe haemophilia. Haemophilia affects approximately 20,000 individuals in the United States, and primarily affects men.
AmerisourceBergen provides pharmaceutical products, value-driving services and business solutions that improve access to care. Tens of thousands of healthcare providers, veterinary practices and livestock producers trust us as their partner in the pharmaceutical supply chain. Global manufacturers depend on us for services that drive commercial success for their products. Through our daily work—and powered by our 21,000 associates—we are united in our responsibility to create healthier futures. AmerisourceBergen is ranked #12 on the Fortune 500, with more than $150 billion in annual revenue. The company is headquartered in Valley Forge, Penna. and has a presence in 50+ countries. Learn more at amerisourcebergen.com.
About MedImpact Direct Specialty™ Program
MedImpact Direct, LLC manages a program on behalf of MedImpact that offers an easy-to-use drug benefit for maintenance and specialty drug therapies through a network of pharmacy partners. We serve as one source to control costs, utilisation and the member experience. Prescription-level utilisation management for all therapies, including limited distribution drugs, aligns dispensing with formulary, clinical guidelines and benefit design rules. Our model was created to be a consumer and plan sponsor advocate by providing more control and oversight between the physician/prescriber and pharmacy dispensing partners. MedImpact Direct, LLC is a wholly owned subsidiary of pharmacy benefit manager (PBM), MedImpact Healthcare Systems, Inc.
MedImpact Healthcare Systems, Inc., an independent, trend-focused PBM™, is the nation’s largest privately held PBM, serving health plans, self-funded employers and government entities. Our business model is unique. We focus on effectively managing client pharmacy benefits to promote Lower Cost and Better Care through One Source. Our model aligns us with our clients. We help promote prescribing of lower-net-cost, medically appropriate drugs with fulfillment at the most appropriate participating pharmacy providing competitive pricing, good value and high-quality service. Our number-one goal is client satisfaction by providing flexible solutions and member-centric products with a focus on lowest-net cost and quality outcomes.
Sobi puts on purple-themed funfair on ‘Wear Purple for JIA’ day to raise funds for juvenile idiopathic arthritis (JIA)
Today, as part of its commitment to supporting people with rare diseases, Cambridgeshire-based speciality healthcare company Sobi UK and Republic of Ireland (RoI) held a purple-themed fundraising funfair event in support of the juvenile idiopathic arthirits (JIA) awareness day ‘Wear Purple for JIA’. The event raised £352.62, which was tripled by Sobi UK and RoI, bringing the total amount donated to £1,057.86.
‘Wear Purple for JIA’ day is the annual fundraising and awareness-raising campaign from JIA at NRAS, the arm of the National Rheumatoid Arthritis Society (NRAS) specifically dedicated to helping those affected by JIA.
In line with the purple theme, visitors to Sobi’s offices in Granta Park were greeted by an eye-catching purple balloon archway. The balloons directed them inside, where they could make donations to participate in purple-themed games such as ‘purple hook-a-duck’, ‘blackcurrant pong’, guessing the number of purple sweets in a jar, purple hula hoop and throwing balls into purple buckets. Winners could claim purple-themed prizes, including purple wine.
As well as the games, funds were also raised through a purple-themed cake sale, and ‘Wear Purple for JIA’ merchandise. Showing their dedication to raising awareness of JIA, the Sobi team were all dressed in ‘Wear Purple for JIA’ t-shirts and merchandise, and fairy wings.
Anne Gilbert, Youth and Family Services Manager at NRAS said: “Although Juvenile Arthritis not a well-known condition, JIA is a debilitating disease which affects approximately 12,000 to 15,000 children and young people in the UK. It is great to see Sobi joining forces with our supporters across the country by taking part in ‘Wear Purple for JIA’ day, raising awareness of the condition and funds to help us continue to improve the information we provide and give support to all children with JIA and their families.”
JIA is a form of inflammatory arthritis which starts in children under 16, but may continue into later life. It is unclear what causes it. , There are seven different types of JIA, with a variety of different symptoms which can include joint pain, rashes or fevers.1,2 JIA is thought to affect approximately 1 in 1,000 children in the UK under the age of 16, with between 1,000 and 1,500 children diagnosed each year.1
Neil Dugdale, Sobi’s General Manager for the UK and RoI, said: “Sobi supports a wide range of charities who provide support for those affected by rare diseases, and we place patient value at the heart of what we do as a company. We are proud to be able to help JIA at NRAS continue their inspiring work by wearing purple to raise awareness of JIA, and by putting on our fundraising event.”
Sobi specialises in innovative treatments for rare diseases, including systemic-onset juvenile idiopathic arthritis (SJIA), the rarest of the seven JIA sybtypes.2 Despite its rarity, SJIA has the highest mortality rate, reported to contribute approximately two thirds of the total mortality rate for JIA.,
 JIA at NRAS. What is JIA? Available at: https://www.jia.org.uk/what-is-jia- (Accessed May 2018)
 Grevich S & Shenoi S. Update on the management of systemic juvenile idiopathic arthritis and role of IL-1 and IL-6 inhibition. Adolescent Health, Medicine and Therapeutics 2017; 8:125-135
 Woo P. Systemic juvenile idiopathic arthritis: Diagnosis, management, and outcome. Nat Clin Pract Rheumatol 2006; 2(1):28-34.
 Wallace CA & Levinson JE. Juvenile rheumatoid arthritis: Outcome and treatment for the 1990s. Rheum Dis Clin North Am 1991; 17(4):891-905
Sobi™ is an international speciality healthcare company dedicated to rare diseases. Our vision is to be recognised as a global leader in providing access to innovative treatments that make a significant difference for individuals with rare diseases.
The product portfolio is primarily focused on treatments in Haemophilia and Speciality Care. Partnering in the development and commercialisation of products in specialty care is a key element of our strategy. Sobi has pioneered in biotechnology with world-class capabilities in protein biochemistry and biologics manufacturing. In 2017, Sobi had total revenues of SEK 6.5 billion and approximately 850 employees. The share (STO:SOBI) is listed on Nasdaq Stockholm. More information is available at www.sobi.com.
For more information please contact
Alkaptonuria (AKU) is a destructive genetic disease. Due to a rare genetic mutation, the human body is unable to break down an amino acid called tyrosine, contained in the protein that we eat. As a result, a toxic acid – homogentisic acid – builds up in the blood. This attacks bones, cartilage and tissue, making them black and brittle. Early onset osteoarthritis can destroy every joint in the body. Patients can also suffer from prostate stones and aortic valve disease. It is estimated that one in 250,000 people worldwide suffer from the disease.
AKU was first identified as an inherited disease in 1902. When the AKU Society was founded in 2003, there was still no proven effective treatment. However, many patients use a drug called nitisinone on an ‘off-label’ basis. (In other words, they take an unlicensed drug because they believe it has positive effects.) In the mid-2000s, the National Institutes of Health organised trials in the USA. Though patients reported that nitisinone helped them, the trials failed. Too few patients were recruited and the criterion for success was not precise.
In 2012, the AKU Society spearheaded an international consortium called DevelopAKUre to organise new clinical trials. DevelopAKUre involves three clinical sites (the Royal Liverpool University Hospital, the National Institute of Rheumatic Disease in Piešt’any, Slovakia, and Paris’ Hôpital Necker), as well as researchers from the Universities of Liverpool and Siena, the biotech Nordic Bioscience and Bratislava’s Biomedical Research Centre. In addition the consortium includes the pharmaceutical company Sobi, which supplies nitisinone for the trial, clinical trial experts from a company called PSR Group, and our French sister society ALCAP. Together, we raised six million euros from the European Commission’s FP7 programme and received five million euros in co-financing.
We believe that this is the first time that a British patient group like the AKU Society has been the driving force behind international drug trials. With regulations restricting contact between pharmaceutical companies and patients, patient groups can play a key role in the success of clinical trial design, recruitment and retention, helping to ensure patient needs are met. We have built relationships with and between AKU patients across Europe through our existing social media channels and through the online forum RareConnect.
According to Datamonitor, 90% of clinical trials are delayed because it is difficult to recruit patients.[i] The AKU Society handled patient recruitment for DevelopAKUre. Through an online advertising campaign, presentations at scientific conferences and an email to 7,000 specialist doctors, we managed to recruit half of the known European AKU patient population for the trials. We are equally proud of our retention rate. Of the 138 patients who started our current clinical trial in 2015, 125 are still on board.
Our first trial, SONIA (Suitability of Nitisinone in Alkaptonuria) 1, lasted for four weeks in 2013. Forty patients took part. Over the course of the trial, which was held in Liverpool and Piešt’any, we were able to effectively calculate the optimum dose of nitisinone which most reduced homogentisic acid in the blood. We are now using this dose for our current clinical trial, SONIA 2. Held in all three clinical sites, this trial started in 2015 and is due to finish in January 2019. By comparing the progress of AKU in patients on nitisinone with an untreated control group, we want to find out if nitisinone can slow or stop the damage caused by the disease. If successful, we shall apply for marketing authorisation from the European Medicines Agency. This will allow nitisinone to be marketed in Europe for use in AKU.
AKU Society also runs an observational study, SOFIA (Subclinical Ochronotic Features in Alkaptonuria). This ran in 2017 and was intended to work out the age at which AKU symptoms begin. A paediatric observational study is in the pipeline too where we would hope to discover when - or if - children should start taking nitisinone.
Meanwhile, the AKU Society has been in charge of dissemination for the DevelopAKUre trials. Our funding requires that we promote the trials as widely as possible. By taking the lead on dissemination, we also get the chance to meet new partners with new ideas. In addition to our main website, we maintain the DevelopAKUre microsite, this is full of information about the consortium and is regularly updated with current news. Patients are also alerted via email about major developments as they occur.
Finally, we continue to raise awareness for DevelopAKUre at major international conferences. Just this year, we have been to the Global Orphan Drugs Congress Europe, the Annual International Medical Students Meeting, the Royal College of Nursing Congress, the Osteoarthritis Research Society International World Congress and the European Conference on Rare Diseases.
If you would like to find out more about the AKU Society presenting DevelopAKUre at a conference/event, please contact:
Reece Edmends at firstname.lastname@example.org
 ‘Online recruitment is streamlining clinical trials’, Datamonitor, July 2008
Rare Revolution Editor