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Date: 2017-11-04

New Drug in Pipeline for PNH

A phase II clinical trial on the new candidate drug (ACH-4471) is expected to start in the first half of 2018. The study will evaluate the candidate drug in combination with Alexion Pharmaceuticals, Inc.'s ALXN Soliris for potential long-term treatment in PNH patients already being treated with Soliris.



Date: 2017-11-04

Results from Recent Clinical Trials to be presented at the American Society of Hematology Conference in December 2017



Date: 2017-08-14


PNH Clonal Expansion and Prognosis to MDS
Thursday, August 24
1:00 – 2:30 PM EST (USA time)
REGISTER HERE: https://www.pathlms.com/aamdsif/webinars/2372

In this webinar, Dr. Jaroslaw Maciejewski (Cleveland Clinic) will discuss the diagnosis and treatment of PNH and MDS as well as the relationship between these diseases. He will also talk about the biologic significance of the development of PNH clones in MDS and what this means as a prognosis. He will describe refractory anemia MDS subgroups and hypoplastic MDS in particular. As with all webinars, you will have time at the end for questions and answers.

This webinar is brought to you by Celgene, Achillion Pharmaceuticals and Genentech.


Date: 2017-05-03

AAMSIF Webinar

"PNH Non Transplant Treatments: What’s in the Pipeline?"
Tuesday, May 23rd 
1:00 – 2:30 PM EST - (note this is US time)
REGISTER using this link: https://www.pathlms.com/aamdsif/webinars/2059

Dr. Lewis will discuss what is on the horizon for PNH non-transplant treatments. He will begin with a discussion about new or experimental complement inhibitors and anticoagulants (blood thinner, as well as provide important updates on the treatment of bone marrow failure. He will also discuss a few active clinical trials in PNH and show you how to locate and search for open trials. Plenty of time will be left at the end of the webinar to get your questions answered. This webinar is brought to you by Achillion Pharmaceuticals and Ra Pharmaceuticals.


Date: 2017-05-03


Ra Pharmaceuticals (RARX) Begins Dosing of RA101495 in PNH Patients

Please see the link below for further information.


Date: 2017-03-01

APPG Report on UK Strategy for Rare Diseases in England

The All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions published a report yesterday looking at the implementation of the UK Strategy for Rare Diseases in England. The APPG has found that the Strategy is not being effectively implemented in England. England is the only country in the United Kingdom where an implementation plan has not been developed by the department of health, and this has resulted in many patients being unable to access appropriate treatment, coordinated care, or information about their condition.

The report calls on the Department of Health to develop an implementation plan to improve services for patients and families affected by rare conditions.

The APPG and Rare Disease UK would like to thank the 300 patients, family members, carers, clinicians, patient representatives and industry who submitted evidence as part of the APPG's inquiry into the implementation of the UK Strategy for Rare Diseases in England.



Date: 2017-03-01

Journal Article

A recent article about breakthrough haemolysis and Eculizumab.



Date: 2016-12-18

NICE Consultation concerning Rare Disease Patients

NHS England and the National Institute of Health and Care Excellence (NICE) are currently consulting on changes to the arrangements for evaluating and funding drugs and other health technologies appraised through NICE’s Technology Appraisal (TA) and Highly Specialised Technologies (HST) programmes. 

Genetic Alliance held a webinar on Friday 2 December 2016 to discuss this with its members - the recording is here: https://www.geneticalliance.org.uk/…/webinar-proposed-chan…/

This link also takes you to the relevant consultation documentation.

PNH Support, as a rare disease patient organisation and registered charity, intends to respond to this NICE consultation - should anyone have any comments they wish to be included, please get in touch - contact@pnhuk.org. The consultation ends on 13 January 2017.


Date: 2016-12-18

EURORDIS Survey on Daily Impact of Rare Diseases

You may wish to take part in EURORDIS's first survey about the impact of rare diseases on daily life by clicking this link.


It will take you about 15 minutes to answer.

The aim of this study is to find out how living with a rare disease impacts your autonomy and daily life. They also want to know more about the level of support you receive, how your care is organised and the cost of your care. 

This survey is a non-profit EURORDIS initiative and is within the scope of the INNOVCare project.


Date: 2016-11-09

Press Releases About Continuing Research into New Drug Therapies for PNH











Date: 2016-04-17

News from Wales


Welsh Government statement of intent for genomics and precision medicine

The Welsh Government has released a statement of intent for genomics and precision medicine. The statement has been developed by a Welsh Government-led taskforce to outline the work that will be undertaken to develop a Strategy for Genomics and Precision Medicine in Wales.  The strategy will underpin work to develop a sustainable, internationally-competitive environment for genomics and precision medicine, supporting the delivery of prudent healthcare for the population of Wales. To read the full statement, please go: http://gov.wales/about/cabinet/cabinetstatements/2016/genomics/?lang=en&mc_cid=cc30b35803&mc_eid=d0bb50ce88

Date: 2016-04-17

EURORDIS Rare Barometer Voices

EURORDIS are looking for the opinions of patients who have a rare disease. They will send out surveys (you can pick which ones you respond to) on different topics to gather patient voice to inform the advocacy work of EURORDIS.

Sign up to take part in the Rare Barometer Voices programme here: http://www.eurordis.org/news/register-rare-barometer-voices-make-your-voice-heard?mc_cid=7b5358fa97&mc_eid=d0bb50ce88

Date: 2016-04-17

Review Videos Produced by Genomics England

Genomics England has put together some short videos about genomics and are looking for people to review these. 

The aim of these videos is to get people talking about genomics and genes. They now want to know if the films they've created help DNA, genes and genomics become something that most people feel they can relate to.  

It should take 10 minutes to watch the videos and answer questions on them. Please go to: http://www.genetube.org/c63170?fv=#/start-video

Date: 2016-04-01

Clinical Trial Preliminary Results

Great progress being made in drug trials especially for patients resistant to eculizumab.


Date: 2016-04-01

Tick Saliva Discovery

"The discovery of how the proteins in a tick's saliva stop a human's immune system from running amok could be the answer to treating life-threatening blood disorders reserachers say."



Date: 2016-04-01


You may be interested to read this article on the impact that Britain exiting the EU will have on Rare Disease patients.


Date: 2016-02-01

Rare Disease UK's Patient Experience Report

Rare Disease UK's patient experience report is out. 1200 patients were surveyed. In summary the report's key findings are:

- Patients and families are given very little information about their condition. 70% of respondents did not feel they were provided with sufficient information following diagnosis.

-Patients are frequently left to research their condition alone.

-Patients often become an expert in their own condition and are often left to inform and educate the medical professionals they encounter.

-Patients face significant delays on their journey to secure a diagnosis. 45% of all respondents waited over a year.
The majority of patients (52%) receive at least one incorrect diagnosis/diagnoses, and visit numerous doctors, before they receive a final diagnosis. 37% receive 3 or more incorrect diagnosis.

-Patients can experience issues in persuading medical professionals to believe their symptoms and describe how their condition is initially written off as ‘psychological’ or, parents are described as ‘neurotic’.

To read the full report see:



Date: 2016-01-14

What is Rare Disease Day?

Rare Disease Day takes place on the last day of February each year.

The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day.

On 29 February 2016, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.

The Rare Disease Day 2016 theme ‘Patient Voice’ recognises the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.

The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.

Patients and patient advocates use their voice to bring about change that:

  • Ensures that politicians continuously and increasingly acknowledge rare diseases as a public health policy priority at both national and international levels.
  • Increases and improves rare disease research and orphan drug development.
  • Achieves equal access to quality treatment and care at local, national and European levels, as well as earlier and better diagnosis of rare diseases.
  • Supports the development and implementation of national plans and policies for rare diseases in a number of countries.
  • Helps to reduce isolation sometimes felt by people living with a rare disease and their families.

Rare Disease Day amplifies the voice of rare disease patients so that it is heard all over the world. 

The patient voice:

  • Is stronger when patients receive training so that patient advocates are equipped with the skills and information that they need to be able to represent the patient voice at the local, national and international level, within and on behalf of their patient organisations.
  • Is vital because rare disease patients are experts in their disease. In situations when there is often a lack of medical expertise or disease knowledge because a disease is so rare, patients develop expertise on treatment and care options. With this expertise, the voice of a rare disease patient is often more inherent to the decision-making process regarding their treatment or care options.
  • Is increasingly present and respected in the medicines regulatory process, during which patients bring real-life perspective to the discussion. This voice needs to be encouraged to become stronger all along the life cycle of the R&D process, from the early stages of development of a medicine, right through to when the medicine is in use in a wider population of patients. This will help to ensure that medicines are developed more efficiently and in turn will result in patients accessing more, better and cheaper treatments at an earlier stage.  

EURORDIS, whose mission is to be the voice of an estimated 30 million people living with a rare disease in Europe, supports patients to make their voice stronger through various initiatives and activities, including:

  • The EURORDIS Access Campaign, which invites anybody living with a rare disease to voice the difficulties they experience accessing treatment or care through a questionnaire.
  • The facilitation of the participation of patient advocates in numerous scientific committees and working parties at the European Medicines Agency and beyond.
  • The EURORDIS ExPRESS Summer School, aimed at empowering patient representatives through training in the areas of clinical research, regulatory affairs and health-technology assessment.
  • The EURORDIS Patient Voices Programme, created to collect patient opinions on transversal topics and include them in the policy and decision-making process and other regular consultations with patients.
  • Rare Diseases International, the global voice for rare disease patients.
  • RareConnect, the online network of rare disease communities that provides a forum for people living with or affected by rare diseases to voice their experiences and meet others living with the same rare disease.

Date: 2015-11-05

Survey about New Drug Developments for PNH

A pharmaceutical company that is developing a treatment for patients with PNH has requested help to reach out to the PNH community. They would like to get patient views on some features of their drug development plans. The company values your input and hopes you will take time to participate. They estimate that the survey will take 10-15 minutes to complete. If you are interested, please click on the link with your preferred language below:

English:  https://www.surveymonkey.com/r/FLYNHPP
French:  https://www.surveymonkey.com/r/JPBH6CC
Spanish: https://www.surveymonkey.com/r/JFS5MT9

You will need to pay a little attention to the differences they are thinking about offering in how the drug is to be given to the patient (injectable or IV). Anyone who has been diagnosed can participate. It does not matter whether or not you ever have taken Soliris. 


Date: 2015-11-04

News from Northern Ireland

Last week Simon Hamilton, the Northern Ireland Executive Health Minister, launched “Providing High Quality Care for people affected by Rare Diseases – The Northern Ireland Implementation Plan for Rare Diseases”. The Plan reaffirms Northern Ireland’s commitment to effectively implement the UK Strategy for Rare Diseases and ensure that people living with a rare disease have access to the best evidence-based care and treatment that health and care services, together with charities, research and industry can provide.
The Plan identifies a range of actions to be taken forward in Northern Ireland during the period 2015-2021 in relation to the 51 Commitments in the UK Strategy for Rare Diseases. Northern Ireland follows Wales and Scotland in detailing how they plan to address these commitments.
The actions committed to by the Department of Health, Social Services and Public Safety in Northern Ireland (DHSSPS) include (but are not limited to):
  1. A continued commitment to work with their patient partners, including our partners in Northern Ireland the Northern Ireland Rare Disease Partnership (NIRDP) and other patient groups.
  2. An agreement to consider adopting the Generic Rare Disease Annex for all service specifications, currently being developed by NHS England, which will outline requirements and considerations that need to be made for rare disease patients (including in diagnostic pathways and specialist centres).
  3. Identifying genetic services as a priority for progress and working to develop a service specification for medical and clinical genetics – which should enable all individuals with genetic conditions to access the tests they need to get a diagnosis.
  4. Steps to facilitate the creation of a Northern Ireland register of rare diseases – this could help provide important information about the frequency and nature of rare diseases.??The announcement of a £3.3million investment in the establishment of a Genomics Medicine Centre in Northern Ireland, working with Genomics England, and participating in the 100,000 Genomes Project.
  5. Work to identify areas which would benefit from cross border collaboration with the Republic of Ireland to maximise patient benefit.

Date: 2015-10-21

Information Sharing

From this month (October 2015) health and adult social care professionals have a legal requirement - under the Health and Social Care (Safety and Quality) Act 2015 - to share information with each other when working together to provide care. This means that a unique NHS Number will be used to share information about individual patients. Health professionals will be required to update a patient’s history so that the next professional who comes into contact with the patient has as much information as possible.If professionals do not have the full information about a patient’s history, at best they may have to get patients to retell their story, duplicating work and wasting precious time, and at worst patient safety may be compromised. The effective sharing of information is invaluable in giving a timely, safe and well joined up service as patients pass between professionals and institutions.

Date: 2015-09-28

Current Research into PNH

Did you know there are at least 7 companies researching 10 new drugs for PNH?


And here is another one in Canada from Resverlogix Corp. See: http://www.resverlogix.com/media/press-release.html?id=528#.VgkbA7SsCbC

Date: 2015-09-23

Rare Disease Patient Experiences Survey - Please complete

Rare Disease UK, has launched a survey into patient experiences of rare (including genetic conditions) and undiagnosed conditions. Anyone who has, or cares for someone with, these conditions can fill in the survey. Rare Disease UK aims to get a full, up-to-date picture of the experiences of rare disease patients.

This survey follows on from a survey that RDUK carried out in 2010, which
 been invaluable in the influencing and campaigning work carried out by Rare Disease UK. The report from this year's survey will serve the same purpose in supporting the work of Rare Disease UK, Genetic Alliance UK, SWAN UK and their members. PNH Support is a member of Genetic Alliance UK.
The link to the survey can be found here:https://www.surveymonkey.com/r/rduksurvey 

Date: 2015-09-10

New Research into PNH and Pregnancy

The study of 75 women showed that eculizumab provided benefit for women with PNH during pregnancy, as evidenced by a high rate of fetal survival and a low rate of maternal complications.

For a preview of the article, please see the following link. You will no doubt recognise some of the clinicians involved in the study.


Date: 2015-08-24

Green Paper: Our Health, Our Health Service Consultation

The Welsh Government is seeking views on how to improve quality and governance in the NHS.

The Green Paper:  

  • sets out  current systems which support quality and governance in the NHS in Wales 
  • seeks views on what else we can do to improve, including the possible use of legislation

The consultation provides an opportunity to consider and discuss:

  • the legislation that may be required to help further improve the quality of healthcare services in Wales
  • revisit the current organisational and governance structures, following the last major health reforms of 2009

The paper informs the public debate on a number of current issues such as:

  • the role of Healthcare Inspectorate Wales
  • leadership in the Welsh NHS
  • the role of patient feedback

​To find out more, visit the Welsh Government website: http://gov.wales/consultations/healthsocialcare/service/?lang=en
The deadline for this consultation is Friday 20 November 2015.

Date: 2015-08-03

Rare Disease UK is planning to set up an All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions. They have been contacting MPs and Lords to invite them to join the group. Although they have had positive responses from many Lords who wish to become members of the group - they have had difficulty in engaging MPs.  As their local constituent, individuals have the most influence over their MP – so please do send a letter encouraging them to join – it will only take a few minutes to adapt the template letterThe more MPs that are actively engaged in the group, the more opportunity there will be to raise awareness, influence change, and work together to improve the lives of individuals affected by rare, genetic and undiagnosed conditions! To find out more about the APPG and to download a template letter visit: http://www.raredisease.org.uk/appg.htm

Date: 2015-07-29

A new Accelerated Access Review website is asking for views on how to improve access for patients to transformative medicines and medical technology. This website is open to all and asks specific questions to help frame the discussion about achieving quicker access.  Other issues for discussion will be added over the next few weeks as topics arise and the team’s work continues to develop. The Review will set out new ways of working to develop medicines and medical technologies. It currently takes on average over 10 years and costs around £1 billion to get a new medicine from the lab to patients. 

The new digital platform on the website is just one part of the work ongoing for the Review. There are ongoing meetings with key stakeholders and interactive workshops to support the evidence gathering process. You can submit your comments through the website until 4 September 2015, when all the evidence and comments gathered online and through other stakeholder forums will be used to inform Sir Hugh Taylor’s interim report.  Discussion with be reopened with new questions after the publication of the interim report. To have your say please go to:


Date: 2015-07-15

Rare Diseases UK (an alliance to which PNH Support belongs) has started a blog where real life experiences of people with rare diseases are shared. The link to the blog is here: www.raredisease.org.uk/latestnews.htm 

If you would like to blog about your own experiences of rare disease please email info@raredisease.org.uk.

Date: 2015-07-13

Recently a study was published by the University of Manchester and Central Manchester University Hospitals NHS Foundation Trust (CMFT) about public knowledge of and interest in the process of medicines research and development. The public in six European countries (including the UK) were surveyed. The full article can be found here:


Date: 2015-06-30

On Friday 26 June NHS England published their response to the “Investing in specialised services” public consultation. The consultation looked at NHS England’s set of ‘principles’ on which future decision making about the investment in specialised services will be made.

You can also find NHS England’s response to the public consultation here.


Date: 2015-06-24

The European Medicines Agency is celebrating its 20 year anniversary in 2015 and recently held a conference to mark the occasion. Yann Le Cam, EURORDIS's Chief Executive Officer, spoke on the importance of increased and better engagement of patients in the medicines development and assesment journey.


Become a patient reviewer for the British Medical Journal. For more information see:



PNH patients or carers have a unique experience on how this condition impacts on daily life. The European Patient Ambassador Programme introduces you to some of the skills you may need to represent yourself or others successfully. For more information, see: 



Date: 2015-06-24

Sign up to the campaign for a European Year for Rare Diseases 2019 here: 


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