People with rare neurological conditions need a much better deal says new Neurological Alliance report
The hard-hitting report, Out of the Shadows: what needs to change for people with rare neurological conditions includes extensive input from member charities of the Alliance, in addition to expert clinicians. The report points out that while the number of people living with rare neurological conditions equals the number living with some types of cancer, people with rare neurological conditions are all too often left behind when it comes to getting the care and treatment they need.
In addition, more than 200,000 people with neurological conditions are expected to be waiting for specialist appointments by the end of the year
The Alliance warns that people with rare neurological conditions risk experiencing further delays and gaps in their support due overstretched services and waiting lists exacerbated by COVID-19.
Case Studies In The Report
Livvy, aged 19, has a rare, undiagnosed neurological condition that leaves her in a wheelchair, needing a feeding tube, and having multiple seizures every day.
Bradley’s dad, John, died with progressive supranuclear palsy at the age of 62, before we was even diagnosed, despite his mobility deteriorating quickly over just a few years - clinicians were not able to agree on what condition he had.
Sam, aged 54, has Huntington’s, another progressive neurological disorder; he also has related mental health problems which have not been successfully addressed and he has been in and out of psychiatric wards. Now, tragically, Sam has terminal cancer.
Specifically, the Alliance’s new report Out of the Shadows is calling for:
Taken together, rare conditions are not that rare at all - 1 in 17 people will be affected by a rare condition at some point in their lives, and it has been estimated that nearly a third of genetic rare conditions are neurological or have neurological symptoms. Yet, poor public awareness and a lack of investment in services for rare conditions has meant that, for too long, people with rare neurological conditions have experienced long waits for a diagnosis, poor care coordination and insufficient information provision.
We first had that gut-wrenching sense that she wasn’t developing like her peers when she was around 9 months. Livvy is now and has been tested for a myriad of conditions that cause her relentless epilepsy, but we still don’t have an answer as to why.
The launch of the ‘Out of the Shadows’ report has given us a great opportunity to come together as a collective with the Neurological Alliance, to shine a brighter light on the challenges people living with rare neurological conditions, such as progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) face, and the crucial role charities play in providing support and lobbying for more rapid diagnosis and access to co-ordinated care.
About The Neurological Alliance
The Neurological Alliance is a coalition of more than 80 organisations working together to transform outcomes for the millions of people in England with a neurological condition. We campaign for high quality care and support to meet the individual needs of every person with a neurological condition, at every stage of their life. Our work is shaped by the experiences of people with neurological conditions and aims to address the causes of poor care.
i. The Neurological Alliance is a coalition of more than 80 organisations working together to transform outcomes for the millions of people in England with a neurological condition. We campaign for high quality care and support to meet the individual needs of every person with a neurological condition, at every stage of their life. Our work is shaped by the experiences of people with neurological conditions and aims to address the causes of poor care.
ii. Neurological Alliance report, Restarting services for people with neurological conditions after the COVID-19 pandemic and planning for the longer term, July 2020.
iii In September 2020, 10 member charities of the Alliance, representing people with rare neurological conditions, responded to a survey about the health care received by their beneficiaries: Ataxia UK, Batten Disease Family Association, Brain and Spine Foundation, Huntington’s Disease Association, Multiple System Atrophy Trust, Transverse Myelitis Society, Narcolepsy UK, PSPA and Spinal Muscular Atrophy UK. We had further contributions to this report from other members of the Alliance, including Dravet Syndrome UK, MNDA, Ring20 Research and Support UK, Spotlight YOPD and Parkinson’s UK.
Iv. In 2019, the Neurological Alliance conducted a survey of more than 10,000 people with neurological conditions, including 1742 people with rare neurological conditions. The findings were published in Neuro Patience: still waiting for improvements in treatment and care, July 2019.
PTC Therapeutics Highlights Data on High Disease Burden and Value of Treatment Across Two Rare Diseases
SOUTH PLAINFIELD, N.J., Nov. 16, 2020-- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the presentation of data on two rare diseases, providing new insights on the burden of Aromatic L-Amino acid Decarboxylase deficiency (AADC-d) and Duchenne muscular dystrophy caused by nonsense mutation (nmDMD). The data, presented at the Virtual ISPOR Europe 2020 conference, further advance the understanding of these rare and devastating childhood genetic disorders, and the need and value of effective treatments.
PTC has been working with the rare disease community to better understand the impact of rare diseases on patients and their families for over 20 years. These insights are critical so that the best treatments can be made available to patients.
AADC-d associated with high and accumulating disease burden, demonstrating the need for access to
an effective therapy
AADC-d is an ultra-rare, genetic disorder that causes severe disability, and the need for 24-hour care and high mortality.[i] There is currently no effective disease-modifying therapy approved for patients with AADC-d.
A review of 66 patient case reports found that symptoms of AADC-d that contribute to high disease burden started from birth (in 29 percent of cases) and accumulated over time.[ii] By age six, 28 percent of patients were so severely disabled that they experienced symptoms in six core domains.2*
New insights into the impact of nmDMD and treatment from patient and carer perspectives [i],[ii],[iii]
nmDMD is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood, and leads to premature death in the mid-twenties due to heart and respiratory failure.[i]
This first known qualitative study evaluating real-life patient and caregiver burden showed that nmDMD has a substantial and multi-faceted impact on both patient and caregivers, including physical, emotional, social and time related consequences.3,4,5
These findings reinforce the need for treatments that address the high unmet need in Duchenne muscular dystrophy and the vital spill over benefits that treatments could also provide for families and caregivers. By improving symptoms, reducing loss of function, or delaying disease progression, treatments have the potential to positively impact the health-related quality of life of individuals, families and caregivers living with Duchenne.
About aromatic L-amino acid decarboxylase deficiency (AADC-d)
AADC-d is an ultra-rare, genetic, life-shortening disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life, with many reliant on feeding tubes or breathing support to survive, and life-long, 24-hour care.1 AADC deficiency leads to delays or failure to reach developmental milestones, such as head control, sitting, standing, walking, or talking, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye movement (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.1 Significant health issues include infections, orthopedic and cardiac complications, and other comorbidities.
About Duchenne Muscular Dystrophy
Primarily affecting males, Duchenne muscular dystrophy (Duchenne) is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk as early as age ten, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties.
About PTC Therapeutics, Inc.
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need.
 Wassenberg. T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12:12.
 BakidouA, Werner C, Buesch K. Age at onset and frequency of clinical signs and symptoms in patients with AADC deficiency: A systematic literature review. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
 Williams K, Buesch K, PiglowskaN, Davidson I, RanceM, BoehnkeA, AcasterS. The development of a conceptual model on the impact of caring for an individual with nonsense mutation Duchenne Muscular Dystrophy. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
 Williams K, Buesch K, PiglowskaN, AcasterS. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy: A qualitative study and the development of a patient-centredconceptual model. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020.
 Williams K, Buesch K, Piglowska N, Davison I, Rance M, Boehnke A, Acaster S. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy at different stages of ambulation. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020
 Van Riuten H, Bushby K, Guglieri M. State-Of-The-Art Advances in Duchenne Muscular Dystrophy. EMJ. 2017;2:90-99.
Dravet Syndrome Foundation Spain was created with the primary goal of removing the barriers that prevent research on Dravet syndrome from advancing, as well as encouraging the search for effective treatments that can mitigate or even cure the disease.
Therefore, FSD places a high priority on funding research that has a clear path to genetic understanding, clinical application and/or therapeutic development.
Dravet syndrome, also known as severe myoclonic epilepsy of infancy, is a condition of genetic origin which falls within the pathological family of channelopathies, as approximately 80 percent of affected patients have a mutation in the SCN1A gene which encodes a sodium channel (Nav1.1) essential for the proper functioning of the brain. This syndrome begins in the first year of life, with seizures triggered by fever, followed by drug-resistant epilepsy. In addition, it causes serious delays in cognitive, motor and speech development, as well as behavioural problems.
We hope to receive projects of extraordinary quality that ultimately aim to improve the quality of life of people living with Dravet syndrome. We encourage all research groups to send us their proposals!
*The period for submitting projects is NOW OPEN*
All details about the call, including rules, eligibility criteria, deadlines and the online submission platform can be found by clicking the find out more link below:
Illumina join the RARE Youth Revolution to support the 2021 intern programme for young people affected by rare disease
00:01 BST Thursday 15th October 2020
The RARE Youth Revolution today announce the launch of their “Illuminating RARE Talent” intern programme with support from Illumina, Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies.
Through the RARE Youth Revolution project, the young rare community have identified securing work experience and internships amongst their biggest challenges, with many denied the opportunity early on during the standard secondary school work experience programme.
The Illuminating RARE Talent programme will provide both short and longer-term intern placements for young people affected by rare disease, from secondary school age onwards.
Nicola Miller explains that, “There is still a great deal of misinformation around rare disease and the capabilities of those affected, resulting in young people missing out on the vital upskilling and opportunities afforded to their peers. This programme aims to provide valuable mentorship and work experience to allow our young community to reach their full potential and demonstrate and nurture their talents. We hope this programme will also educate employers, demystifying the relationship between employment and those with disabilities or complex health needs.”
Intern positions will be made through trusted partner companies and will offer a variety of roles across the UK and US initially. “By working with our project partners, we hope to see this programme grow to include companies from across the globe offering diverse positions.” Nicola Miller.
Illumina supporting the path ahead
“We are delighted to have Illumina support this initiative. Their support will enable us to recruit a full-time youth co-ordinator position for the 2021 programme. This person will be responsible for coordinating the intern programme as well as the wider project and is in itself an intern opportunity with recruitment from within our richly talented rare youth community.” Nicola Miller.
“At Illumina, our mission is to improve human health by unlocking the power of the genome. We are delighted to be partnering with RARE Revolution on this initiative which extends this philosophy by aiming to unlock the power of the individual with a rare disease through intern placements, and help them realise the potential they hold within themselves. Such programmes are powerful on many levels and help change the way society interprets rare diseases.” Shirlene Badger, Patient Advocacy EMEA, Illumina.
About RARE Youth Revolution
The RARE Youth Revolution is powering up young RARE voices and empowering a future generation of rare disease advocates. RARE Youth Revolution is an initiative by RARE Revolution Magazine (a first of its kind digital magazine giving a voice to those affected by rare conditions, the charities that represent and support them and industry professionals). The initial concept was a dedicated youth programme, empowering children and young people to have their RARE voices heard by supporting them with a structured mentoring and work experience programme, where they produced their own online magazine RARE Revolution Magazine Youth Takeover!
This online launch marks a big step toward reaching more young people globally, to elevate more voices and to help more children and young people gain valuable experience in media,
storytelling, and advocacy.
For businesses interested in joining the trusted intern partner scheme contact Rebecca on firstname.lastname@example.org
Deliberate and network with industry professionals at a brand-new virtual conference on Translating Documentation & Communication in Clinical Research taking place on Tuesday, 24 November (https://www.arena-international.com/tlcr/).
Over 15 industry leaders from leading companies such as Novartis, Sanofi, Medtronic and Bluebird Bio will join attendees LIVE to share their experience and insight. Furthermore, the event will deliver a targeted audience of pharma, biotech, medical device, and CRO representatives demonstrating clear need for language solutions. With opportunities including virtual exhibition and presentation, Translation and Localisation in Clinical Trials gives you access to an audience showing clear intent, that simply does not exist anywhere else.
This event will highlight all aspects of language operations for clinical research: clinical trial protocols, informed consent, site documents, regulatory submissions and correspondence, labelling, IFUs, patient correspondence, and much more.
Top 5 sessions:
For more information: https://www.arena-international.com/tlcr
About our Virtual events
Holding a virtual conference enables Arena International to create a secure environment for end users and vendors while delivering on what they have signed up for— a platform enabling knowledge sharing, networking and insights from peers to overcome specific challenges. This is an appropriate format to respond to the current global situation as evolutions are uncertain.
About Arena International
Arena International Events Group (part of GlobalData) welcomes over 10,000 business executives each year who attend over 80 of our events worldwide, they are addressed by over 1,700 industry leaders delivering leading edge content and discussion. Arena International’s events consistently strive to provide thought-provoking content and unrivalled networking opportunities, which add tangible value to those who attend. With comprehensive learning programmes, wide-ranging exhibitions and extensive networking activities we bring together industries to collaborate and learn. www.arena-international.com
Outsourcing in Clinical Trials 2021 handbook
The go-to guide for professionals in the global clinical outsourcing space Building on the world-renowned Outsourcing in Clinical Trials series, Arena International is proud to announce the arrival of the second Outsourcing in Clinical Trials Handbook.
For Further information, please contact:
Alex Fearn | Marketing Executive
Tel: +44 (0) 207 936 6436 | Email: email@example.com
Rare Revolution Editor