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Orphanet United Kingdom
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  • An inventory and classification of rare diseases
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  • An inventory of orphan drugs
  • Guidelines, reports
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Welcome to the Orphanet UK national website!


This page presents the news, events and documents of national significance. You can also:


To access all information on rare diseases, orphan drugs and expert services visit the main Orphanet portal (



News in the UK


Patient at Royal Manchester Children's Hospital first to take part in trial of new treatment for rare inherited disease


Researchers at The Royal Manchester Children's Hospital and The University of Manchester have recruited the first child into a new study, which aims to evaluate the clinical effectiveness of a treatment developed in Manchester.

Funded by charity, The Society for Mucopolysaccharide Diseases (The MPS Society), the study could alter the lives of patients with Sanfilippo Disease - a fatal inherited condition which causes progressive dementia in children.
Jack Baird, who is four years old and from Sunderland, has the condition Sanfilippo Disease, also known as Mucopolysaccharidosis (MPS) III, which affects around one in 85,000 people in the UK.


Sanfilippo Disease is a progressive, genetic and life-threatening disease for which there is currently no effective treatment. The syndrome is diagnosed in childhood, with sufferers experiencing deafness, hyperactivity and behavioural problems, progressive developmental delay, and seizures during the later stages of the condition. The condition is usually fatal in late childhood or early adulthood.


"Jack's condition means that he doesn't speak much, is very hyperactive and has to be sedated to go to sleep. Jack isn't very interested in toys, but he loves going to school, and out elsewhere. He enjoys going on the bus and going to Asda where everybody knows him.


"We found out about the clinical trial through The MPS Society, which was working with Dr Jones at The Royal Manchester Children's Hospital. We got involved initially in 2012, by helping to fundraise for the study. We know that the treatment is not going to save Jack, but if the drug works we will have more time to make more memories, and memories are priceless," explained Gemma Nelson, Jack's mum.


The study conducted by the National Institute for Health Research (NIHR) / Wellcome Trust Manchester Clinical Research Facility at The Royal Manchester Children's Hospital builds on initial research from The University of Manchester, which was funded by the MPS Society. It aims to establish whether high doses of the treatment Genistein Aglycone is effective in people with Sanfilippo Disease.


People with Sanfilippo Disease have too much of the substance heparan sulphate in their cells, particularly cells in the brain, because they lack the enzyme that usually breaks the heparan sulphate down. It is thought that Genistein Aglycone works by blocking the production of heparan sulphate and associated damage to the cells.


Genistein is a naturally occurring chemical found in soya beans. In the study the researchers will use a synthetic version, Genistein Aglycone, to maximise absorption through the gut.


Previous research in patients with Sanfilippo Disease has shown that low doses of Genistein reduce the heparan sulphate in the blood and urine, but are not sufficient to be effective in the brain1. However, research at The University of Manchester using higher doses of Genistein Alygone in the mouse model of Sanfilippo Disease has shown that this is effective in reducing neurodegeneration.


Dr Brian Bigger, Chief Scientific Investigator for the study from The University of Manchester said: "It is fantastic to see a treatment we developed at The University of Manchester, in collaboration with clinicians, reach the point where we can test its effectiveness in patients. A US study published last year, demonstrated the safety of high doses of Genistein Alygone in patients with Sanfilippo Disease.


"This new study is the first to test the effectiveness of the higher doses of Genistein, which are thought to be of the strength required to see an effect in the brain. We are looking forward to analysing the results of the trial and hope that the treatment will benefit patients."
Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at Saint Mary's Hospital, Manchester, who is leading the study explains: It's important for us to undertake research in rare diseases, like Sanfilippo Disease, so that we can provide these patients with the best possible care. During the later stages of the disease, patients experience seizures, become wheelchair bound and can have trouble swallowing.


"This new study is open to children aged 2-15 years old. Patients taking part in the study will receive either Genistein Aglycone or placebo (an inactive substance that looks like the treatment) with food, over a period of 12 months. After 12 months all children will receive Genistein Aglycone for a further 12 months", adds Dr Jones, who is also Honorary Senior Lecturer at The University of Manchester.


Over the course of the study, patients will attend up to nine clinic visits where they will have the level of heparan sulphate in the spinal fluid measured, as well as undergoing physical examinations and other assessments. It is anticipated that the study will take around three years to complete.


"Sanfilippo Disease is rare, affecting about 150 children in the UK. The MPS Society is proud of its collaboration with The University of Manchester and The Royal Manchester Children's Hospital, which will bring this important research to the clinic and the patient. The funds raised so far allow for 24 children to be on the Genistein clinical trial. We need to raise a further £120,000, so that another six children can be involved and I'd like to urge people interested in making a real difference to donate, however big or small, and get in touch with The MPS Society," adds Christine Lavery, Chief Executive of The MPS Society, the major funder of the study.


The delivery of the study was supported by the National Institute for Health Research (NIHR) Clinical Research Network.


Source: Central Manchester University Hospitals


Rare Genomic Institute’s free 150-page e-book on Rare Diseases - Diagnosis, Therapies and Hope


This rare diseases e-Book focuses on all rare disease audiences and includes:    


  • Ten case studies of rare disease discoveries 
  • Interviews with physicians, researchers and genomics experts
  • A rare disease Parent Toolkit 
  • Information on latest research into rare diseases


* You can down load the e book here


Book Release - Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases, Jules J. Berman

The premise of the book is that the common diseases can be approached as aggregates of rare diseases. Drugs that are effective against rare diseases will always find some use in the treatment of the common diseases; and the best way to find new treatments for the common diseases is to fund research into the rare diseases.


"This book about rare diseases is a rare book. Few authors have the breadth of knowledge to cover the field of rare diseases. Jules J. Berman, well known in medical informatics, tutors the reader with a mix of history,genetics, medicine and social commentary on common versus rare disorders. The book is readable, interesting and unexpectedly entertaining. It is not a textbook or a compendium, but for anyone interested in rare diseases generally it is a unique and informative read." -M. Ian Phillips, Editor, Expert Opinion on Orphan Drugs, Director, Center for Rare Disease Therapies, Keck Graduate Institute, Claremont, CA, USA*

"At last, a book that makes these complex matters comprehensible. Dr. Berman has produced a very significant work here. He manages to bring together the complexities of genetics and inheritance and the complex relationship of rare diseases to common diseases,and weave them together to explain many things about human biology and disease. His use of over 100 rules, with a rationale for each, is a novel and very useful way of summarising key points of his work. These rules will be a valuable aid for students as well as lay readers wanting to better understand this complex area." -John Forman, Executive Director, NZ Organisation for Rare Disorders, Wellington, New Zealand*

"Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases bridges our understanding of the common diseases and the rare diseases. This unique and much-needed book provides an insightful glimpse of how biomedical research will play out as the rare diseases take an increasing role in the way we understand and treat the common diseases. Healthcare professionals, students, biomedical researchers, and advocates for rare disease research will find that this book applies common sense to a rare subject." -Stephen G. Groft, Pharm.D., Director of the Office of Rare Diseases Research, U.S. National Institutes of Health, 1993-2014 (retired)*

* For full endorsements and availability please see the Elsevier site

For more information please visit the author's website


The I Have IIH Foundation Release New Infomation Booklets

Why raising awareness for IIH and providing essential support and information is a priority

Everyday people affected by Idiopathic Intracranial Hypertension, suffer with debilitating symptoms and chronic headaches. It can affect ANYONE of ANY age, gender, body type, and ANY ethnic group. It primarily starts with an unbearable headache that never goes away, neck stiffness, balance and memory problems as well as other worrying symptoms.


IIH is often misdiagnosed as Migraine, Brain Tumour, Depression, ME/CFS and many other conditions. On average it can take up to 3 years for it to be diagnosed, and is usually found after visual problems occur. Visual problems can lead to either partial or full vision loss, when surgery is then necessary to halt the process.


Lack of accessible information


When patients are diagnosed with IIH, they come away often more confused by the condition, rather than with a complete understanding of it. Although some doctors will explain the basics as much as they can, the medical terminology tends to add more to a patients confusion and worry. A patient will go home only retaining the frightening aspects of the condition, rather than anything that is going to help them in the long run.


If the person diagnosed doesn't understand the condition, how can they make anyone around them understand, and get the support and understanding from them that they need? The answer is they can't! This lack of accessible information will mean they then have to look to the internet, which will throw up many support groups and forums, where people with the condition have posted. Some of the posts can read like a horror story to someone newly diagnosed, and will only add to the fear of the condition and any possible procedure or surgery. What then will this mean for a newly diagnosed person?


While some information on the internet can help inform someone newly diagnosed, it can also send them spiralling into the depths of despair, as they can only vision the very worst in front of them, rather than to acknowledge that everyone is different, and the outcome is not always the same for everyone. People with successful outcomes with this condition do not find it necessary to go back to support groups, or forums on-line to relay this to others, but choose to concentrate on going back to a life they had, before the IIH symptoms interrupted it. So to the many searching the internet, they will struggle to find any optimism or hope with this condition.


Misunderstanding of the condition


To the naked eye a sufferer looks well, but is actually too sick to do everyday tasks. The headache is often so severe that they experience depression and anxiety. In ALL cases they feel isolated and misunderstood. The impact this condition has, is not only a physical one, but an emotional and financial one too, and can affect a whole family. In many cases sufferers of IIH, end up losing their employment, because they have taken too much time off work, or have struggled with the daily requirements of their jobs, Not all employers choose to help by adjusting their hours or duties to allow them to continue to be productive.


Family and friends find it hard to understand the symptoms of IIH, and what it means to someone with it. We see many cases of members in our support forums, stating how their families and friends don't understand that they can't do the things they did before, and how stressful they find this lack of understanding. Many struggle with the strain it has put on their relationships with those closest to them, and how no one understands them to the point they don't see those people any more. There have even been some who have been called lazy. If this was any other disease or condition, would it be questioned?


How can a difference be made with awareness for IIH?


The more information and awareness there is for IIH, the more accepted it would be, just like any other known neurological condition. There would be less cynical and ignorant views about it, no need for proof or in depth questioning. For IIH to be as well known as MS or Epilepsy for instance, would indeed make a great difference to a sufferer, because they would have confidence in the fact that it was known to the general public, and accepted for what it was, a neurological condition that could affect anyone at any time, and was not something that was caused by something the sufferer had done to themselves for example; weight gain, which is one of many causes, but not in all cases, but anyone who's weight has triggered it, should still not be treated with contempt.


If someone was to say they had Epilepsy or MS, I am sure that sympathy and compassion would be unconditionally given. This is not so when a person says they have IIH. Why? The recipient being told won’t have heard of it before. Does this mean then that it’s not really an illness? When it comes to the general public understanding, it is completely alien to a great majority of them.


Social Inclusion


For a sufferer to have total social inclusion, awareness and acceptance of the condition is needed, which again, means that awareness is key to this. At the moment we have found that many sufferers do feel socially excluded, and can only therefore; feel accepted by others with the condition. As this is a rare disease, this still means there are many not able to connect with others, especially if they are in other countries, where even less is known about the disease. In our support forums we have sufferers from as far away as Australia, Hong Kong and even Africa.


Wherever they are from, their posts often have in common the same points about the lack of information, understanding and support.


Working to change perception


It is us, and organisations like us, that are working to change the perceptions of the general public, in regards to Idiopathic Intracranial Hypertension, by listening to the people who are affected, and what their needs are. We have already made progress by producing a series of booklets to support patients, through their diagnosis and treatment. These booklets, a total of nearly 8000 have been sent to 230 hospitals in England, with the rest of the UK to follow.


Our booklets will be accessible to patients with IIH, especially the newly diagnosed, as hospital consultants start to offer them to them. The booklets will provide all the information needed, as well as reassurance in relation to what they are going through. It also means that this information can be accurately filtered down to their friends, families, employers etc. Plus, they will have the information they need to connect to us. They, and the general public, will have information available to them, in an accessible format and from a reputable source.


There will no longer be the frustration caused by not having this information at their fingertips, nor trying to access it amongst the many horror stories they can find on the internet. By having information at hand, thousands could benefit, especially in the long run.


Change however, as often is the case can take quite a while, but we have made a start. Hopefully in time, we will see the perceptions of IIH change, and sufferers feel less and less isolated and detached, from the very society, they were a part of before they developed IIH.

For more informaiton please visit the I Have IIH website

Source: Heidi Wilson, I Have IIH Foundation




News Updates from the BPSU (British Paediatric Surveillance Unit) 


The British Paediatric Surveillance Unit (BPSU) enables doctors and researchers to find out how many children in the UK and Republic of Ireland are affected by particular rare diseases or conditions each year.

The Unit was set up in 1986. It is a joint initiative of the Royal College of Paediatrics and Child Health (RCPCH), Public Health England (PHE) and the Institute of Child Health (ICH) to support research into rare childhood disorders





Latest BPSU news bulletin April 2014 available to read here




News on Orphanet

The 2014 annual report on rare disease activities in Europe is now available


The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the EUCERD Joint Action, with the cooperation and input of the rare disease community including Member States representatives of the EC Expert Group on Rare Diseases, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State levels throughout 2013. The report includes EU Member States’ progress in developing and implementing a national plan/strategy for rare diseases, as recommended by the Council Recommendation on an Action in the Field of Rare Diseases.

By end 2013, the deadline to elaborate national plans/strategies for rare diseases, most EU Member States had submitted a plan/strategy to their national authorities and sixteen countries have adopted a plan/strategy. France and Spain have implemented and assessed their first plan. As a number one priority, most countries plan to identify and design centres of expertise for rare diseases. Many of these plans/strategies, however, have no dedicated budget for their actions, a result of the unfavourable economic context which may hinder the implementation of defined measures. The next challenge for EU Member States will be to effectively implement and assess these plans, which the new Commission Expert Group on Rare Diseases will follow closely. 

The year 2013 was not without its highlights. The EUCERD ended its mandate with two new recommendations and one opinion adopted in 2013 (five recommendations and one opinion adopted throughout its mandate). It is hoped that the Committee’s success to meet its goals will be mirrored by the new EC Expert Group on Rare Diseases which replaced the EUCERD in January 2014. Once again, Rare Disease Day was an immense success in 2013, with 73 participating countries. 2013 also saw important developments concerning the 2011Cross-Border Healthcare Directive, which led to the publication in 2014 of the Commission Delegated andImplementing Decisions concerning European Reference Networks. 

The International Rare Disease Research Consortium (IRDiRC) also underwent a year of intense activity with the constitution of its Scientific Committees, the first IRDiRC conference in Dublin in April 2013 and publication of its policies and guidelines, all aimed to reach diagnosis of most rare diseases and 200 new therapies for rare diseases by 2020. Regarding orphan medicinal products, the EMA received 201 applications for Orphan Designation in 2013, the Committee on Orphan Medicinal Products adopted 136 positive opinions and the European Commission granted 136 orphan designations. Seven new orphan medicinal products received EU marketing authorisation in 2013. 

For first time readers, the five-part report’s first volume provides an overview of rare disease activities in Europe. Additional individual country reports are available via the National resources link. These country reports provide up-to-date information concerning national activities on rare diseases. For readers familiar with past reports, a synthesis of all 2013 activities is proposed in Part II, Key developments in the field of rare diseases in Europe in 2013. The report covers the following topics: development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services. Readers will find bibliographies, web addresses organised by country and rare disease national plan/strategy document links. Once again, over one hundred contributors supported this report update. 

The six volumes of the report are freely accessible via the EUCERD Joint Action website. *


Orphanet collaborates with START to enrich its encyclopedia with information on cancers


START is a state-of-the-art instrument to support clinical oncologists and physicians in their everyday oncology practice. It is a service provided by Alleanza Contro il Cancro (“Alliance against cancer”), under the auspices of the Italian Health Ministry. START articles, displayed into chapters, provide evidence-based information of current clinical approaches to human tumors. They are written by European experts, internally and externally reviewed, and regularly updated. Each chapter is available in English and some of them are also translated in Italian. In addition, some chapters dedicated to a more general audience (‘public area’) have been adapted in Italian. 

START chapters can now be accessed on Orphanet through links made in the “detailed information” section at the bottom of the corresponding disease pages.*
To know more about START


UK and Ireland are recruiting Post-validators for Research Activities within the Patient Organisation community

UK/Ireland patient organisations and funding bodies registered on Orphanet can now contribute to review Orphanet’s content for research activities (in the UK and Ireland) by becoming Post-validators.

Post-validators check regularly the activities/services linked to the disease(s)/group(s) of diseases of their field of expertise and report to the national team any missing activity/service or incorrect information. This can be done by email or by using an online form available at or> Register online & more -> “Report missing / incorrect information regarding research activities”.

To become a Post-validator, organisations need to be registered on Orphanet and be active and easily contacted. An application form is available at or -> Patient organisations -> “Become a Post-validator”. This is a voluntary collaboration and any organisation can opt-out at any time.

The initiative has been welcomed by the patient organisation community and the new recruited post-validators are already reporting missing and incorrect information. Further, many are endorsing clinics that are missing from Orphanet but have offered their group members a fast and accurate diagnosis and/or an excellent care and treatment of their condition. The list of recruited Post-validators to-date is available at or>Registries, Biobanks and Research Projects -> “Post-validators”.



  The Orphanet Mobile app 


The Orphanet mobile application, freely available for iPhone and iPad, gives access to the main Orphanet services without any Internet connection and in 6 languages (English, French, German, Italian, Portuguese and Spanish): access a list of rare diseases with their description and associated resources as epidemiological and coding data (OrphaCode and ICD-10); consult the Emergency guidelines PDFs; find contact details of expert centres and professionals dedicated to rare diseases in the 37 counties of the Orphanet consortium. The application allows bookmarking of favorite pages and PDFs to find them back in one click in the “My Orphanet” section. In addition, pages can be annotated or sent by email. Updated every month, the Orphanet application has already been downloaded 4,000 times since its launch on last Rare Disease Day. The second version of the app, providing a dedicated iPad version, was launched in June. This version reached the top10 of apps in the medical area in several countries. The application is getting more and more popular and was warmly welcomed by the professionals and patients.*


*Source: OrphaNews Europe

Last update: 12/08/14

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