Evaluating the Key Challenges to Advance Commercialization & Patient Access
Conference: 15th - 16th October 2019
Workshop: 17th October 2019
Location: Holiday Inn Kensington Forum, London UK
SAVE £200 AND REGISTER YOUR PLACE ONLINE HERE - EXPIRES SOON
It's imperative for scientific researchers and orphan drugs/rare diseases professionals to stay on top of the latest advancements, technologies and processes related to orphan drugs and rare diseases. For this reason and the success of the last few years conference and workshops, we have gathered experts representing top organisations to share their insights with you at The 9th Annual Orphan Drugs & Rare Diseases Conference taking place on 15th and 16th October 2019 in London, UK.
SMi Pharma had the opportunity to speak with three of our featured speakers and co-chair to discuss some of the challenges they face in the industry and their strategies for overcoming them. The following are excerpts from those Q&A sessions. Visit the download centre to read the full interviews.
We asked Eddie Pease: What do you see as the greatest research challenge to overcome in the field at the moment?
"The main challenge in my opinion is working out the probability of success – will the return of investment be reached? Are the drugs efficient and do we need to take any essential steps/adjustments? It is important that we get a better view of clinical and commercial success in this field and with this information, we can combine it with science and ultimately get drugs to patients quicker and with less cost"
Donatello Crocetta, what is your role within the Rare Diseases field and why are you supporting the Orphan Drugs and Rare Diseases conference for 2019?
"I have been working for many years at Global Medical Affairs in Rare disease field and I believe that it is critical to share best practices in this small community to allow more patients to get access to Diagnosis and advanced treatments."
Rick Thompson can you tell us about the invite letter includes?
"Patient centricity and engagement will also be at the heart of the event. Rare disease patients are now widely recognized as the true experts in their field, and I am heartened to see a patient focus throughout this year’s program. In my role at Findacure, we dedicate our time and resources to helping patient associations form, grow and professionalize, with the aim of delivering a strong patient voice and need into the heart of the orphan drug industry. It is my hope that SMi’s 9th Annual Conference on Orphan Drugs and Rare Diseases will help to inspire more collaborative projects in the rare disease field, which place patients at their heart."
To read the full speaker interviews and co-chairs invite letter please visit the download centre at: www.orphandrugs.co.uk today!
Download the brochure today to see what you could gain from attending and also take a look at our hand-picked expert presentations from the likes of Alexion Pharmaceuticals, Bioconal Emas, Finadcure, Takeda, Minoryx, Rare Life Solutions, Chiesi Farmaceutici and many more.
Reserve your secured place today to benefit from our £200 special early bird saving available when you book by 30th August 2019 online at www.orphandrugs.co.uk
SMi look forward to seeing you in October 2019!
Rare dermatological diseases patient organisations leading the way in community building and skills development
Last month, over 120 leaders of patient groups that support people living with skin diseases came together in Milan for two unique events hosted by the International Alliance of Dermatology Patient Organizations (also known as GlobalSkin): the RareDERM Forum and the GlobalSkin 2019 Conference.
The RareDERM Forum, the first event of its kind, brought together nearly 40 rare and uncommon dermatological disease patient group leaders from 13 countries. Participants benefitted from formal learning sessions and connecting with other patient leaders and dermatology stakeholders.
A primary objective of this two-day Forum was to begin building a cohesive community of rare dermatology disease patient organisations and supporting stakeholders to ensure the lives of these patients are positively and measurably impacted through improved care and treatment. Working in small groups and then as a larger plenary group, participants began developing a strategy that defines challenges and needs; will build a cohesive community to grow knowledge and skills; will help stimulate research, foster connectivity; and deliver advocacy. Several advisory committees were formed within the community and reports on their progress will be shared later this year.
Following this ground-breaking event, most RareDERM patient leaders also attended the three-day GlobalSkin 2019 Conference, which is hosted every second year, and is specifically designed for dermatology patient leaders with a focus on advocacy, science and research, and building organizational capacity resulting in strong, resilient organizations. It attracted over 120 delegates from 35 countries representing a wide cross-section of serious skin diseases. Participants learned from each other and outside experts during stimulating plenaries, engaging workshops, and small group mentorship opportunities through a living library.
To learn more about the RareDERM initiative, please visit the GlobalSkin website. Groups and organisations supporting people living with dermatological diseases are invited to join the global movement for skin by signing up for a no-cost GlobalSkin membership here.
The International Alliance of Dermatology Patient Organizations (also known as GlobalSkin) is a unique global alliance, committed to improving the lives of skin patients worldwide. Together, with our network of over 150 patient organizations, we nurture relationships with members, partners and all involved in healthcare ─ building dialogue with decision-makers around the globe to promote patient-centred healthcare. For more information visit
New research reveals impact of ‘hidden’ health conditions and calls for better care for patients with rare disease, PKU
For the first time, patient groups – supported by funding from BioMarin - from across six countries in Europe have come together to create a coalition with the shared goal of improving health services for PKU patients. The Live Unlimited PKU campaign has launched on the 28th June, International PKU Day and brings together patient organisations from Turkey, Spain, France, Sweden and Italy to tackle public misconceptions of the disease.
The campaign aims to raise awareness of the potential severity of the disease and calls for improved standards of adult care, including consistent provision of metabolic specialists, dieticians and psychological support for every adult with PKU in Europe – aligned with the European Guidelines from 2017.iv
Phenylketonuria (PKU) is a rare, lifelong metabolic condition which affects around 1 in 10,000 people in Europe.ii The condition limits a person’s ability to break down protein, with potentially devastating effects on the brain if left unmanaged.iii In Europe, the condition is screened for during the new born heel-prick test, but just 9 per cent of the public have heard of the condition.iv
There is currently no cure for PKU, so either a heavily restricted diet – with almost no natural protein - and/or medical treatment may be required for life.v Despite the neurological effects of the condition and difficulties following a low-protein diet, just 12% of adults with PKU have access to the multidisciplinary tools and support they need, with many adults having to go to children’s wards to receive any specialist care.vi
PKU can have a serious and long-lasting effect on patients’ mental health and quality of life, with a recent study showing that as many as 52% of adults with PKU lived with anxiety or depression. Other issues reported by patients include ‘brain fog’, sleep issues and lapses in concentration.vii
These findings were in line with polling results conducted as part of the campaign, which demonstrated that PKU patients are more likely to find certain life milestones stressful than people without a hidden health condition. Key findings build a Pan-European picture of the impact PKU has on the lives of patients when compared to those without a hidden health condition, including:
Every patient is entitled to the best possible care regardless of the rarity of their disease. The Live Unlimited PKU message resonates with us as healthcare professionals, with patients and hopefully, with the general public and decision makers. Raising awareness of this condition and the burden it has on patients’ lives on a daily basis is extremely important.
The Live Unlimited PKU campaign has been co-created by many patients, and six patient support organisations - with funding and support from the biopharmaceutical company BioMarin - in order to drive policy change and help put in place the right care for adults living with PKU across Europe.
The campaign includes a suite of visual imagery and videos featuring the personal stories of patients across Europe. There are campaign videos which highlight the lives and challenges of PKU patients in their respective countries and many more case-studies available on the campaign website (www.liveunlimitedPKU.com). The one-year campaign will run until International PKU Day 2020, with many patient groups and individuals helping to raise awareness of PKU until this date. Further events and initiatives will continue throughout the year.
Five patients from across Europe share their experiences of living with PKU in a series of videos. The full video series can be viewed here.
About Live Unlimited PKU
The Live Unlimited PKU campaign launched in June 2019 to raise awareness of the gaps in care for adult patients living with the rare genetic condition, phenylketonuria (PKU). The campaign has been developed alongside the six patient groups and their memberships: AMMeC and Cometa A.S.M.M.E (Padua) (Italy), Les Feux Follets (France), Svenska PKU-föreningen (Sweden), PKU Aile Derneği (Turkey), and FEEMH (Spain), funded and developed by BioMarin Europe Ltd. The campaign seeks to call for consistent provision of adult metabolic specialists, dieticians and psychological support for every adult with PKU in Europe.
About phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare, lifelong metabolic condition which limits a person’s ability to break down protein and can lead to cumulative toxic effects on the brain.iv With PKU, the foods you eat directly impact the way your brain functions.
People with PKU have a problem with the phenylalanine hydroxylase (PAH) enzyme, and so can’t fully break down an amino acid called Phenylalanine (Phe), which is found in all protein-containing foods (e.g. nuts, meat, eggs, dairy) and sweeteners such as aspartame.iv If too much protein is consumed, high levels of Phe build-up in a person’s blood and disrupt the balance of neurotransmitters - or even cause physical damage to the brain itself. This can result in neurological symptoms such as problems with memory and attention, depression and anxiety.[viii] The condition is screened for during the new born heel-prick test, and affects around 1 in 10,000 people in Europe.iv,v PKU is an inherited autosomal recessive disease. This means that if both parents are carriers of the PKU gene, their baby has a 1 in 4 chance of suffering from PKU.[ix] The condition is tested for in almost all European countries during the new born heel prick test, but general awareness of the condition remains low. Until fairly recently, doctors thought that PKU was a condition that was outgrown once the brain fully developed as a teenager. However, we now know that high blood Phe levels continue to result in damage at any age, and so the condition should be managed for life.[x]
Please find the campaign website, including all patient stories, here: www.liveunlimitedPKU.com
[ii] ESPKU. PKU: Closing the Gaps in Care An ESPKU benchmark report on the management of phenylketonuria within EU healthcare economies. Available at: https://www.espku.org/wp-content/uploads/2015/06/PKU_report_FINAL_v2_nomarks.pdf
[iii] Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162. Published 2017 Oct 12. doi:10.1186/s13023-017-0685-2.
[iv] Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31:57–68. Last accessed April 2019
[v] Al Hafid N, Christodoulou J. Phenylketonuria: a review of current and future treatments. Transl Pediatr. 2015;4(4):304–317. doi:10.3978/j.issn.2224-4336.2015.10.07
[vi] Blau et Al. Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism 99 (2010) 109–115
[vii] Ford, S. et Al. Living with Phenylketonuria: Lessons from the PKU community. Molecular Genetics and Metabolism Report. 2018
[viii] Bilder DA et Al. Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. Dev Neuropsychol. 2016 May-Jun;41(4):245-260.
[ix] NORD. 2019. Phenylketonuria. Available at: https://rarediseases.org/rare-diseases/phenylketonuria/. Last accessed April 2019
[x] Berry et Al. Newborn screening 50 years later: access issues faced by adults with PKU. Genetics in Medicine volume 15, pages591–599 (2013)
PhD research study: Quality of life and social support for adults living with EB and other rare skin conditions
Navigating Quality of Life and Social Support
Sondra Butterworth began her working life as a general nurse. During a career break to have her two children, she decided to study for a degree in Psychology and went on to gain a Master's degree in Psychology at Manchester Metropolitan University. It was during that time she gained an interest in Community Psychology and the empowerment of people living with disabilities.
Sondra is currently a Health and Social Care PhD student at the University of Chester UK and works for the charity DEBRA UK. This is where Sondra became passionate about the social support and quality of life impact on people affected by Epidermolysis Bullosa (EB), going on to produce the literature review along with Dr. Kate Martin, Consultant Clinical Psychologist EB Service and Dermatology, Solihull Hospital, supported by DEBRA UK. (Read the abstract below.)
The next stage of the research includes an on-line survey which is aimed at adults living with EB and other rare genetic skin conditions.
Taking part in the survey
Quality of life and social support
About World PI Week
World PI Week is a global movement to raise awareness of primary immunodeficiency and related challenges; promote quality of life for people with primary immunodeficiency, early diagnosis, availability and access to treatment and care worldwide; and stimulate communication and advocacy around primary immunodeficiency.
Primary immunodeficiencies are rare diseases which occur when a person’s immune system is absent or does not function properly. When a defect in the immune system is inherited (carried through the genes), it is called primary immunodeficiency. There are over 320 forms of Primary Immunodeficiency (PI or PID), ranging widely in severity.
Primary Immunodeficiency often presents in the form of “common” infections, sometimes leading physicians to treat the infections while missing the underlying cause, allowing the infections to reoccur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death.
For more information, please visit www.worldpiweek.org, follow us on Twitter @WorldPIWeek.
Bénédicte Faure, campaign manager: firstname.lastname@example.org
EspeRare enters into partnership with Dermelix Biotherapeutics to develop DMX-101, an in utero treatment for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
- DMX-101 has the potential to become the first ever in utero administered drug to correct a genetic disease before birth
- EspeRare and Dermelix aim to initiate the pivotal trial in Europe and then in the US in the second half of 2019
- Both partners have signed an Ethics and Social Responsibility Charter under which they commit to continuously engage with the patient community during the development of the therapy
Geneva, Switzerland – 2 April, 2019 – EspeRare, a not-for-profit organization dedicated to accelerating the development of rare diseases treatments, today announced that it has entered into an agreement with Dermelix Biotherapeutics for the co-development of its lead programme, DMX-101. DMX-101 is a novel in utero protein replacement therapy for the treatment of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare pediatric genetic disease.
Under the terms of the agreement, EspeRare will sponsor the development of DMX-101 (previously ER-004) in Europe, where it was accepted under the EMA’s PRIME (Priority Medicines) scheme and benefits from Orphan Drug Designation. Dermelix will sponsor the development of DMX-101 outside of Europe and will be responsible for its commercialization worldwide.
XLHED is a rare genetic disorder affecting ectodermal structures including sweat glands, respiratory glands, skin, hair and teeth. Clinical manifestations of XLHED are severe and can include life-threatening episodes of hyperthermia, heat intolerance, and an increased risk of serious respiratory tract infections. There are currently no approved therapies for treatment of XLHED and the current standard of care is only palliative.
DMX-101 is a protein replacement therapy designed as a substitute for endogenous EDA, a protein missing in XLHED. It is administered during late foetal development through a single-course treatment delivered into the amniotic fluid. This approach has already demonstrated significant benefits in a prenatal study, the results of which were recently published in the New England Journal of Medicine1 and featured in Nature Medicine’s 2018 Research Highlights2.
In the second half of 2019, EspeRare and Dermelix anticipate the start of patient enrollment into a pivotal study for DMX-101, first in Europe and then in the US, with the aim of moving the treatment towards market approval. In the US, DMX-101 benefits from Orphan Drug Designation and Fast Track Designation by the FDA.
“Patients with rare diseases so often lack the treatment options they need. This partnership with Dermelix represents an amazing opportunity to bring an innovative therapy to patients and to potentially change their lives radically. Beyond XLHED, we are committed to paving the way for other prenatal treatments to correct genetic diseases before birth.”
Dr. Nick France, Chief Medical Officer of Dermelix, commented: “It is both tremendously exciting and humbling to be able to participate in such a groundbreaking program. The ability to correct a severe disease before birth represents a huge step forward in therapeutic paradigms. We look forward to a productive collaboration with EspeRare and working hard for families with XLHED.”
In line with EspeRare’s model and in order to reflect EspeRare and Dermelix’ common values and patient-centric approach, the agreement also includes an Ethics and Social Responsibility Charter under which both partners have committed to fully and transparently engage the patient community. Through a Patient Advisory Council, the partners will streamline information transfer in order to provide valuable inputs for the development of DMX-101.
- N Engl J Med 2018; 378: 1604-1610
- Nature Medicine 2018; 24: 702
XLHED is a severe, chronically debilitating and life-threatening rare disease affecting approximately 4/100,000 live male births every year. XLHED is caused by genetic mutations in the EDA gene, a gene that encodes for an important ectodermal developmental protein, EDA. The absence of functional EDA results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands resulting in serious life-threatening clinical manifestations from birth including hyperthermia, craniofacial anomalies and recurrent respiratory infections that impair quality of life in patients and their families.
For more information, please visit https://bit.ly/2KbMqGa
EspeRare is a Swiss not-for-profit organization that is committed to improve the lives of children with life-threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. EspeRare’s innovative model combines pharmaceutical know-how with philanthropic, public and private investments to develop and bring to life these discontinued therapies. With its unique patient-centered approach to drug development, EspeRare engages the patient community at each step of the process, with the intent of giving children and their families fair access to these therapies and a new hope for the future. For more information, please visit https://esperare.org/en/node/13
DMX-101 is a fully humanized EDA molecule consisting of the human IgG1 Fc sequence linked to the human EDA TNF binding domain. Preclinically, DMX-101 has been shown to bind to the receptor EDAR resulting in activation of the NFϰB signaling pathway, which triggers the transcription of genes involved in the normal development of multiple tissue types. DMX-101 is the first and only treatment specifically targeting XLHED. Administered during the third trimester of pregnancy, it has the potential to become a “single course” treatment, significantly improving symptoms of the disease throughout patients’ lives. This approach has already demonstrated significant potential in in a case series of three patients treated in utero with DMX-101 during the third trimester of pregnancy. The treatment normalized sweat gland function and associated thermoregulation, and improvement in dentition and respiratory function were observed. These results were recently published in the New England Journal of Medicine1 and featured in Nature Medicine’s 2018 Research Highlights2.
For more information, please visit https://esperare.org/en/dmx-101
About Dermelix Biotherapeutics
Dermelix is a privately-held, clinical-stage biopharmaceutical company focused on the development of innovative therapies for rare and debilitating dermatologic conditions with high unmet medical need. For more information, please visit https://www.dermelix.com
For English-speaking and International Media:
Instinctif Partners for EspeRare
Sue Charles / Dr Christelle Kerouedan / Genevieve Wilson
T: +44 (0) 20 7457 2020
The march has been organised by a group of pioneering researchers and medics who have made a breakthrough discovery that the ‘patients were in fact right all along’. A recent paper published on PubMed set out the results from a 15 year research project, costing over one billion pounds, which concluded that at no time in history has civilisation experienced a pandemic of Munchhausen syndrome or Munchhausen by proxy (previously factitious disorder) – an illness in which a person fabricates illness for themselves or a dependent and puts them through unnecessary medical treatment. The study went on further to conclude that it found 99.87% of patients presenting in the consultation room were credible and educated individuals, who were highly informed and able to articulate their symptoms accurately.
The study states that these problem patients were in fact found to be affected by one or more of over 7,000 rare diseases which it estimated accounts for some 350 million patients worldwide.
Dr. A (who preferred to remain anonymous), told us:
“The results of this study are astounding. It turns out our patients were right all along. Fancy thank – who knew!”
The organisers hope to see millions take to the streets and are already setting their sights on planning the 2020 march. “With a century of attitude to overturn there is much work to do, but this study and march are an important first step. Next we will be recalling the following posters which are known to adorn many a GP waiting room walls – PLEASE DON’T CONFUSE YOUR GOOGLE SEARCH WITH MY MEDICAL DEGREE.
Instead they will be replaced with the following Medical Association approved poster.
I PROMISE NOT TO UNDERMINE YOUR LIFETIME OF LIVING WITH YOUR CONDITION BASED ON MY ONE HOUR MEDICAL SCHOOL LECTURE ON IT.
Doctors and patients alike all agree – these are exciting times!
Rare Revolution Editor