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New Breakthrough Leading to a Cure
12th October 2011
For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature brings the possibility of patient-specific therapies closer to becoming a reality.
Scientists, at the Wellcome Trust Sanger Institute and the University of Cambridge, were working on cirrhotic liver disease caused by alpha-1 antitrypsin deficiency.
The deficiency is caused by a change to a single pair of letters, out of the six billion which make up the genetic code. As a result a protective protein called alpha-1 antitrypsin is badly formed and it cannot escape from the liver where it is made.
The mutation is one of the most common genetic conditions and it affects one in 2,500 people in Europe. Diseases which stem from this are even rarer and they include cirrhosis of the liver and, because the antitrypsin cannot circulate to the lungs, emphysema.
The only solution is a liver transplant, but this requires a lifetime of drugs to prevent organ rejection.
The research group took a skin cell from a patient and converted it to a stem cell. Stem cells are 'indifferentiated', that is to say they can term unto any type of cell needed within the body.
A molecular scalpel was used to cut out the single mutation and insert the right letters - correcting the genetic fault.
The stem cells was then turned into a liver cells. One of the lead researchers, Professor David Lomas, said: "They functioned beautifully with normal secretion and function".
Professor Lomas is a Patron of the Alpha 1 Awareness UK charity.
For more information follow these links:
NATURE: http://www.nature.com/news/2011/111012/full/news.2011.588.html
BBC: http://www.bbc.co.uk/news/health-15272081
The Guardian: http://www.guardian.co.uk/science/2011/oct/12/skin-liver-cells-inherited-disease?INTCMP=SRCH
There was also an interview with Professor Lomas in the BBC Radio 4 Today programme broadcast on 13th October 2011 at 7:20 am. The interview is available on BBC i-Player.
Visit to Paediatric Liver Unit, Kings College Hospital, London
London 22 June 2011
One of our supporters ran in this year’s London Marathon and raise a large amount of money for Alpha 1 Awareness, we were overwhelmed by the size of this donation. THe athlete, who is an Alpha herself, has a young son (PiZZ alpha) who is treated at King's Hospital, London, under Dr Dino Hadzic, at the children’s liver unit. We therefore felt it appropriate to give Dr Hadzic £1000 for his ongoing research into the effects of Alpha 1 on the liver of PiZZ children.
While trustees of the charity were in London for a Patients In Nice meeting, they arranged to meet Dr Hadzic at the Hospital and present him with the cheque personally.
Here is what Dawn wrote about the visit.
The highlight of the few days that we spent in London was the visit to King's College Hospital. There were no alpha children in the hospital on the day we were there. Doctor Dino Hadzic was kind enough to spend time with us and he personally escorted us around the Children’s Unit.
We were taken to all the departments concerned with children's liver. There were two very young babies in the intensive care unit. One of these patients was from Saudi and was being treated privately. This demonstrates the international reputation of King’s.
I presented our cheque to the Doctor Tushar Vince and her two nurses: they just said WOW look at that! Dino just smiled and said how much we support them. They asked why we were working in the charity, and I said I was a grown up Alpha. They said they had never met one of them.
We went to the day ward and spoke to the sister in charge. Then we went to the ordinary ward and the attached parents’ room. The kitchen section of the room even had a dishwasher.. We were shown the playroom where the children are not allowed to run around, Dino said it was better to sit them in front of a screen with lots of games. There was also a schoolroom for the older children. The saddest room was for intensive care of older children. In this ward there was a very sick young boy: Dino did not speak about him.
It felt warm in all the rooms and they were homely, caring and friendly. The Variety Club, Sunshine Club and Toni and Guy, the hair people, all sponsor a huge amount of money to the unit. Dino asked where our money was from and we told him about our supporter and the London Marathon, he said “Ah, X's Mum”. We spoke about a family from Portugal, who are members of Alpha 1 Awareness. Dino knew the familiy's child's name and said he would be seeing him in July. He is such a wonderful Doctor. I told him about the births of Amber, Eddie and Lily, to charity members. I said he must have done something right in London, at the European Congress last year. He looked shocked and said, well no, not me but perhaps my presentation at the congress helped parents if they were thinking about another baby . . .
Dawn Heywood-Jones
Doctor Dino Hadzic, Dawn & Doctor Tushar Vince
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Letter from Grifols
22 June 2011
We have received a letter from Grifols (the new owner of Talecris). Press here for the full text or read this extract:
It is an honor to personally inform you that Grifols has completed its acquisition of Talecris Biotherapeutics. With the completion of this transaction, a new era for Grifols has begun.We will now operate as one company, Grifols, drawing upon the talents and strengths of both organizations.
We have already begun the process of integrating our two companies. This will take some time and will require patience. Our goal is to make this process as seamless and invisible to you as possible. Undoubtedly, we will face challenges along the way, but our commitment to you is that we never lose site of our central mission: to promote patient access and choice to the full range of plasma therapies.
As an even larger company, we are more conscious than ever of our responsibility to act in accordance with this mission. We firmly believe that our combined company will have direct benefits for patients and healthcare providers alike. We will be able to produce more therapies from every plasma donation and advance our research and development activities with the benefit of our shared expertise. In addition, we will continue our support of patient advocacy, education, and awareness initiatives so that these vital programs can continue to serve patients worldwide.
In keeping with our goal to make the integration process seamless for you, your main contacts at each company will not change in the near term. We value our partnership with the patient communities and we look forward to continuing our work together.
Sincerely,
Victor Grifols Roura Ramon Riera
Info Day in Glasgow
Read a report on the Named Patient Sessions.
Saturday June 11th 10am-4pm
Two major announcements were made at the patient Information Day held in Glasgow.
The first was that Professors Sabina Janciaskiene and David Lomas have become patrons of the Alpha 1 Awareness UK charity. Professor Janciauskiene is based at the Hanover Medical School and she is a world famous researcher into alpha1 antitrypsin deficiency. Professor Lomas is based at the University of Cambridge where he is Professor of Respiratory Biology and a Honorary Consultant Physician at Addenbrooke’s and Papworth Hospitals.
The second is that after many years of advocating replacement (augmentation) therapy in the United Kingdom this charity has succeeded in persuading the pharmaceutical manufacturer Talecris to assist in providing information to medical specialists who request it on the use and expected clinical outcomes of this treatment.
It is hoped that treatment may be available under the Named Patient Procedure of the Medicines and Healthcare product Regulatory Agency. Rare Disease Day 2011
To mark Rare Disease Day 2011, Rare Disease UK will be holding four parliamentary receptions across the UK to bring all those with an interest in rare diseases together to highlight the issue to politicians.
They will be holding receptions on the following dates:
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Scottish Parliament: 22nd February 6:30pm – 8.30pm
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Westminster: 28th February 4pm – 6pm
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Northern Ireland Assembly: 3rd March 12pm – 2pm
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Please note that you must register in advance to attend these events. The process is very simple just go to the RareDiseaseDay website and follow the instructions.
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New Rare Disease UK report “Experiences of Rare Diseases: An insight from patients and families”
The report, “Experiences of Rare Diseases: An insight from patients and families”, deals with the views and experiences of 600 patients and families affected by over 100 different rare conditions on a wide range of topics ranging from research to diagnosis, and access to care, information, support and treatment.
Although some patients and families indicated positive experiences of timely diagnosis and good quality care and support, unfortunately this is not the case for the majority of patients and families with rare diseases.
There are over 6000 recognised rare conditions each with different symptoms and prognoses, yet our publication highlights how patients and families frequently face common problems. Just some of the problems faced by patients and families we found include:
Significant delays in diagnosis.
Patients being misdiagnosed (often multiple times).
Patients “rattling around the system” having to visit multiple specialists before receiving an accurate diagnosis.
Difficulties in accessing information and support.
Fragmented and poorly coordinated care.
Patients and families having to attend multiple hospital appointments often at a long distance from home.
Problems during transition from paediatric to adult services.
A lack of effective treatments.
Inconsistencies in access to medicines.
A lack of information and opportunities to be involved in research.
A copy of the report is available to download here.
FIND-A1
Alpha1 Awareness is sponsoring a patient/doctor initiative to identify and accurately diagnose Alpha1 aptients in the UK. For more details go to FIND-A1.
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The Discovery of Alpha1-Antitrypsin
Professor Dr Sabina M. Janciauskiene has written a history of the Discovery of Alpha1 Antitrypsin and given us permission to publish it. The content is quite technical but with the help of a reference book or Wikipedia her history will give an insight for those Alphas who wish to delve into the medical side of the condition.
Doctor Sabina Janciauskiene recently gave a presentation at the London Alpha Congress and touched on some of the points in the new publication.
Agreement between Kamada and Baxter
24 August 2010
Kamada enters into an exclusive distribution and manufacturing agreement with Baxter International for Kamada’s treatment of Alpha-1 antitrypsin Deficiency, the inhaled product called Glassia. Kamada will receive staged payments of $45m including an upfront payment of $20m; Kamada will also be eligible to receive up to $25m in aggregate payments upon the achievement of milestones and royalty payments on net sales of the product produced by Baxter.
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EUROPLAN
In 2009 Health Ministers from each EU member state signed a European Council Recommendation that called on Member States to develop and implement strategies for the treatment and care of people living with rare diseases.
Currently many European countries have no strategic plan for delivering the best course of treatment and support for all patients with rare conditions - including alpha1 antitrypsin deficiency.
EUROPLAN is a three year project which aims to provide recommendations, best practices, case studies and indicators to help each EU Member State develop their strategy for rare diseases. Over 25 countries are taking part and the findings will go back to the European Commission as part of their role in overseeing Member States’ actions in improving services for rare diseases.
In each country an umbrella organisation for rare diseases is organising a conference for all people interested in better health care. In the UK this is the Genetic Alliance UK.
The conference will be help in Manchester on the 11th of November.
Go to http://www.europlanproject.eu/Categoria/2/en-GB/project/rare-diseases-related-events.aspx for more details.
(The website uses the old name of the Genetic Alliance UK - Genetic Interest Group.)
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European Alpha1 Congress LONDON 2010
The Fifth European Congress of the Alfa Europe Federation was held in London on the 9th and 10th of July 2010. Alpha1 Awareness UK was the host association and the event was sponsored and organised by Alpha Europe Foundation.
The event was a great success and Alphas from all over the UK came and learned much from top experts in the field. They also had the opportunity to talk with other Alphas about their experiences.
Go to Congress
The Cochrane Report
The recently published Cochrane Report caused outrage in both those countries that have augmentation therapy and those that aspire to have it. The report was written by Professor Peter Gøtzsche of Denmark and co-authored by his wife.
Their findings were, that based on two clinical trials, the effectiveness of augmentation therapy was not demonstrated. The two trials had small sample sizes and were flawed in a number of ways.
The American Alpha 1 foundation was quick to heavily criticise the report. Talecris joined the mounting criticism. In the UK Professor Stockley also pointed some of the flaws in the Cochrane analysis.
Members of the charity board were interviewed by EP Vantage (a publication which Evaluates Pharmaceuticals - mainly looking at the regulatory and financial aspects).
Apart from the apparent flaws in the report, we were concerned about the timing of the report and the fact that it seemed to be rushed to publication. The report came at an interesting time. Just days before its release the new entrant to the AAT market, Kamada’s Glassia, won US approval (Kamada wins US approval for new AAT therapy, July 9, 2010).
The Cochrane Reports are generally widely esteemed. The Cochrane Collaboration method is to look at a number of trials which in themselves have low statistical value and combine them in such a way that certain measures have statistical significance.
A reference to Cochrane is in the recent Goverment publication Government Response to the Health Select Committee on Commissioning.
For the full text go to: http://www.official-documents.gov.uk/document/cm78/7877/7877.pdf
Paragraph 33 reads:
33. NICE has made specific efforts to identify opportunities for
“disinvestment” from particular health technologies or interventions,
both by encouraging topic suggestions and by actively trawling the
research database held by the Cochrane Collaboration. This exercise
revealed very little by way of current NHS practice that is simply
ineffective. This should not obscure, however, the opportunities for
more effective technologies and services. NICE can offer advice, but
it will be for commissioners and providers of healthcare to lead in
delivering those efficiency gains.
The meaning of disinvestment in this context is not explained. Nor is the necessity of putting the word in quotation marks.
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Publications Update
The UK version of the A1 to ZZ Alphabet book for children is now available. Copies can be obtained by emailing info@alpha1awareness.org.uk to request the book. Medical professionals may request multiple copies.
Also the fourth booklet on Antitrypsin Deficency: Diagnosis and Treatment is now available. This series is now complete.
Go to Publications.
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Health Fair - Winchester 12th May 2010
On Wednesday 12th May the Army Training Regiment in Winchester held a Health Fair. This is in a series of events organised by the Army to raise awareness of health issues amongst soldiers and ancillary personnel.
Lin Daniels and her relative Lucy, who is a sergeant in the Army, manned a stall for Alpha1 Awareness and spoke to the visiting recruits about Alpha1.
Lin Daniels was pleasantly surprised to find that quite a few of the recruits asked relevant questions. Then of course there were staff members: a Queen Alexander’s nurse who had never heard of Alpha 1 went away with a hand full of information, and a physiotherapist did likewise. The Matron from the camp Medical Centre, had heard of the condition but was pleased to hear more and took away information. One of the Welfare Officers took many of our booklets to put on file in the Welfare Office in case they had anyone come in who needed information ….. a family member being diagnosed etc.
 
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Talecris
Against a background of news about a possible 'perfect storm' in the blood-plasma product market, and talk of problems due to the shake-ups in the American healthcare systems, Lawrence Stern, CEO of Talecris Biotherapeutics has today released a 'letter to the Alpha-1 community' explaining the direction that Talecris is now planning to take.
There are a some shocks for all of us, I'm sure - especially those of us who were looking forward to being involved with the planned Talecris inhaled trials at ADAPT that were scheduled for this year!
On the upside, though possibly into the further-away future, Talecris is heading up research into 'recombinant technology' as an alternative to human-derived plasma. This boils down to creating alpha-1 antitrypsin (AAT) using cell-cultures and lab techniques, rather than relying on human donors as is currently the case. Of course, we're all hoping this will have the dual benefit of reducing the cost of production of AAT drugs like Prolastin which are currently considered too expensive for the NHS, and at the same time, creating virtually limitless supplies of the much-needed AAT protein, thus avoiding competition with other drugs and illnesses that also require access to human-derived plasma currently.
Here is the text of Mr Stern's letter:
Update on Alpha-1 Research Program
April 28, 2010
Dear Alpha-1 Community:
I am writing to update the community on Talecris’ Alpha-1 research program. The relationship we have
with the Alpha-1 community is important to us and we want to keep you informed of several changes as we prioritize our research program.
• We are in the final stages of planning studies with our intravenous, plasma-derived alpha-1
proteinase inhibitor that will evaluate safety and efficacy in a large patient population. We plan to
evaluate a higher dose in these studies, as we know this is an important issue for the community.
These studies are a commitment to regulatory authorities, but are also based on our commitment to
furthering scientific knowledge in Alpha-1.
• Talecris is also investing in a new, recombinant technology for producing alpha-1 antitrypsin
protein from cells in culture, as opposed to human plasma. While still several years from being
considered for human studies, we plan to evaluate the protein produced by these cells for both
intravenous and inhaled forms of therapy.
• Because of the above commitments, which include studies that are required by the regulatory
authorities, we have decided not to pursue studies evaluating inhaled, plasma-derived alpha-1
antitrypsin. At this time, Talecris has decided to focus on the research programs described above.
We hope you agree that the research path we have chosen is the best one for Talecris and the Alpha-1
community. We continue to increase our investment in the Alpha-1 and respiratory therapeutic areas.
With your ongoing support, we will continue to advance the science and therapeutic options for Alpha-1.
Sincerely,
Lawrence Stern
Chairman and CEO
Talecris Biotherapeutics
For the original letter in PDF form, hosted on the website of our good friends, the Alpha One Foundation in the USA, click here
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Rare Disease Day in Wales
Thursday 4th March 2010
A group of one hundred families, clinicians, researchers and politicians in Wales came together to mark Rare Disease Day 2010 with a reception at the National Assembly for Wales on Wednesday 24th February. Rare Disease Day is part of a global initiative to raise awareness of rare diseases and improve and coordinate services for people living with rare conditions and their families. The event was organised by Rare Disease UK and hosted by Helen Mary Jones AM for Llanelli.
Several families from Alpha 1 Awareness UK attended the event including Jeff & Meryl Darkins from Blaenau Gwent and also Angela & Ray Miller from Maesteg.
Photo: Jeff Darkins, Trish Law and Meryl Darkins
Rare Disease Day 2010 was on Sunday the 28th of February and the theme was ‘Patients & Researchers: Partners for Life’ and raised awareness of the need for research into rare conditions and development of treatment and support for people living with them.
A rare disease is one that affects about one in 2,000 people. There are more than 6,000 different rare conditions. Rare diseases are surprisingly common – 3.5 million in the UK (175,000 people in Wales) - live with a rare condition at some point in their lives.
Rare Diseases are diverse in severity and symptoms presented by patient. People living with these conditions, however, report similar issues around diagnosis and treatment. It can take patients years to achieve a diagnosis, leading to a deterioration of the condition, inappropriate treatment and medication and significant distress for them.
Photo: Angela Miller and Janice Gregory
Rare Disease UK is campaigning for a strategy in Wales and across the UK for integrated service delivery for rare diseases to aid speedy diagnosis and effective treatment and care for people living with rare conditions.
Alastair Kent, Chair of Rare Disease UK, said: “There are tens of thousands of people in Wales and millions of people in the UK living with a rare condition. For many, there is little knowledge on how to treat and manage their condition and scientific research is lacking. Raising awareness of rare diseases and the need for a co-ordinated approach for the diagnosis, treatment and research of rare diseases is hugely important.”
Rare Disease Facts:
• 75% of rare diseases affect children and 30% of rare disease patients will die before their fifth birthday
• 1 in 17 people will develop a rare condition at some point in their life
• Rare diseases are often chronic, progressive, degenerative, and often life-threatening
• Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy
• Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
• Rare disease patients face common problems:
Lack of access to correct diagnosis
Delay in diagnosis
Lack of quality information on the disease
Lack of scientific knowledge of the disease
Heavy social consequences for patients
Lack of appropriate quality healthcare
Inequities and difficulties in access to treatment and care
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Research Grants
Alpha1 Awareness have transfered £1000 to support research at King's College, London. This is mainly to benefit Alpha children.
More good news is that our colleagues in America, the Alpha One Foundation guided by CEO John Walsh, have matched our donation to King's. The Charity Board is delighted at this demonstration of international cooperation.
More on the Research page.
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Testing for Alpha1
Alpha1 Awareness has received sponsorship from the pharmaceutical company Talecris to distribute AlphaKits® to those members, associate members and their families who have not yet been tested. Initially the kits will be sent to people with a close family member who is known to be an Alpha.
There will be no charge for the kit or the test, either to the person or their GP. Full details will be given out on our Information Days. If you feel that you may benefit from this service please contact us.
The test procedure is as follows. Your doctor takes a blood sample either from an earlobe or a finger and applies it a special paper. Once this has dried it is placed in a protective envelope for the safe transit of blood products and posted to the testing laboratory. Also included are the doctor's and your details. The results of the analysis are posted back to your doctor who can explain them to you.
The results are entirely confidential between the doctor and the patient - we will not be given the results.
® AlphaKit is a registered mark of Talecris Biotherapeutics GmbH
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