Take the new Rare Barometer Voices survey on rare disease patients’ experience of treatments and make your voice heard
Who can respond to the Rare Barometer Voices survey?
This global survey is open to anyone from any country in the world who is living with a rare disease, as well their family members and carers. The survey is available in 23 different languages and all responses are anonymous.
It takes 10 minutes to complete the survey online and the more people who respond and share their experiences, the more powerful our voice will be!
If you are not already registered to participate in the Rare Barometer Voices program, you will be asked to complete a short registration form before you begin the survey. The survey closes on 30 April.
How will the results of the survey be used?
The survey responses will be used to develop insights into the experience of people living with a rare disease in relation to treatments. We will be able to generate an overview of rare disease patients’ experience of treatments at a global level as well as breakdown the results by geography, disease group, gender and age.
The results will be shared with patient organisations, policy makers and the general public. The findings will be used by Eurodis in their advocacy work to drive real change for people living with rare diseases. The key insights will also be shared with all respondents via email and social media and the full report and associated infographic will be made available on the Rare Barometer Voices website.
Why Rare Barometer Voices?
Rare Barometer Voices is the EURORDIS-Rare Diseases Europe survey initiative that brings together over 8,000 rare disease patients, family members and carers who share their experiences and opinions on the issues that matter to the rare disease community. Rare Barometer Voices was created to systematically collect patients’ opinions on transversal topics and introduce them into the policy and decision-making process. The objective of the programme is to transform patients’ and families’ opinions and experiences into facts and figures that can be shared with a wider public and policymakers.
Eurodis would like to thank you in advance for your participation. For more information, visit Eurodis
Last week I attended Findacure’s Drug Repurposing for Rare Diseases Conference at the RCN HQ in London. There were a wide of range speakers from patient representatives, medical professionals, a medical student, patient groups to pharma companies. This range of perspectives and some really inspiring collaborations highlighted what can be achieved by sharing and learning from the unique expertise and skills of each of these groups.
The UK’s first drug trial for Rett Syndrome
After the warm welcome from Rick Thompson, CEO of Findacure, we heard from Reverse Rett and Rett UK. Rachael Bloom Stevenson, CEO of Reverse Rett talked about Reverse Rett’s involvement in the first UK clinical trial for Rett Syndrome in 2017, which was launched at King’s College Hospital in London under Professor Paramala Santosh. Becky Jenner, CEO of Rett UK and parent to Rosie, spoke about her daughter’s experience of participating on the trial and the benefits that they personally have experienced from the trial.
Repurposing nitisinone in alkaptonuria
Professor Lakshminarayan Ranganath, Director of the National Alkaptonuria Centre (NAC), is a consultant at the Royal Liverpool Hospital, he talked about repurposing nitisinone in alkaptonuria patients.
Alkaptonuria (AKU) is an iconic autosomal recessive condition, caused by a faulty enzyme (homogentisate dioxygenase) in the tyrosine degradation pathway that results in a build up of homogentisic acid (HGA) in the body. This affects multiple systems in the body including the spine, joints, heart, ligaments, eyes and kidneys.
Nitisinone has been used in a related disorder, hereditary tyrosinaemia 1, as the standard of care for more than 20 years. Data collected from the NAC shows a beneficial effect of nitisinone in AKU.
Pharnext on Pleotherapy
Pharnext is an advanced-clinical-stage biopharmaceutical company. Rodolphe Hajj, Chief Pharmacology Officer and Xavier Paoli, Chief Commercial Officer at Pharnext, gave a joint talk about Pleotherapy™, a platform that systemises the identification and development of new synergistic combinations of repositioned drugs for diseases with high unmet medical needs. These new therapeutic entities are called PLEODRUG™ and they are expected to feature high levels of efficacy and safety due to being formulated with new, optimal, lower doses of their individual components, and they target simultaneously several disease pathways.
Winner of The Student Voice essay
We had the pleasure of hearing from Logan Williams, winner of The Student Voice essay competition. Logan is a final year medical student at The University of Auckland. The title of his essay Repurposing: a rare opportunity: a brief insight into how implicit bias towards biomedicine impacts the care received by patients with a rare illness. His essay focused on his experience of treating a five-year-old boy with worster drought syndrome and how he became inadvertently caught in the trap of focusing on the boy’s diagnosis rather than the patient.
After speaking to the boy’s mother, Logan searched to understand the origin of biases towards biomedicine, with himself and the medical system, believing it is imperative that patients and families are given a voice.
Incentivising the repurposing of off-patent medicines
Dr Pan Pantziarka spoke about his work as part of ReDo (Repurposing Drug in Oncology) and an AMRC led repurposing round table group, which aimed to facilitate the use of off-patent repurposed medicines within the NHS.
Idebenone: how repurposing this drug is helping Duchenne muscular dystrophy
Catherine Lawrence, Senior Medical Advisor UK at Santhera and Janet Bloor, parent and Duchenne Advocate, and Vice Chair at RACC, jointly discussed advocacy for Duchenne, the development of the drug Idebenone and the subsequent clinical trial.
Duchenne muscular dystrophy is a rare genetic muscle wasting life-limiting disease. Santhera was the first pharmaceutical company to address the hugely unmet needs of older non-ambulatory boys, and has been trialling Idebenone, originally developed for Alzheimer’s, as a respiratory drug for Duchenne.
Janet talked about how her son (who is now 25) and has been on this trial for 18 months. Janet is a strong advocate of having a registry for your disease that is interconnected on a global scale.
A life with PNH: from isolation to treatment
The last speaker of the day was Suzanne Morris a PNH Patient Representative. She was diagnosed as a child in the 1970s when there was very little help or support. It was incredibly moving to here Suzanne speak of living her life in secret for decades. After her diagnosis and in the following years she talked of the difficulty of living with PNH in a time when there was a lot of prejudice in society against blood diseases. Suzanne also discussed the lack of focus on the mental side of conditions and how this is not taken in to consideration. This led to a discussion about compulsory counselling and the benefits that this could potentially give to patients and their families.
Suzanne featured in our RARE Blood issue read it here.
Rare Revolution Editor