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From infancy to adulthood: a new generation of challenges for rare disease communities


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Whilst there is generally no cure for a rare disease, there have been huge advances in treatment options.

The goal for first generation treatments was survival, but second generation treatments are now helping patients live a more ‘normal’ life and enjoy a better quality of living. And just last year, we saw landmark breakthroughs in advanced genetic therapies, such as viral mediated gene transfer and CAR-T therapies.

Today, thankfully, infants with rare diseases can often live much longer and grow up to enjoy the milestones of life through childhood, adolescence and adulthood.

Clearly treatment can be life-saving and life-changing. However, the lack of awareness around rare diseases, and the diagnosis challenge, still remains. And, as patients live longer, this creates whole new challenges to make sure they receive the level of care they need.

Ashfield's presentation explores these challenges and how the pharmaceutical and healthcare industry can respond to them.

Published in: Healthcare
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From infancy to adulthood: a new generation of challenges for rare disease communities

  1. 1. From infancy to adulthood: a new generation of challenges for rare disease communities Matt Brierley and Nagore Fernandez
  2. 2. Part of UDG Healthcare plc2 Ashfield, a global leader in healthcare commercialisation solutions To partner with our clients, helping to improving lives by helping healthcare professionals and patients get the medicines, knowledge and support they need. PA R T N E R I N G W I T H T H E T O P 2 0 G L O B A L P H A R M A C O M PA N I E S >6,000 PEOPLE A N D O F F ICES I N 2 3 CO U N T RI ES O U R M I S S I O N A D I V I S I O N O F O U R VA L U E S
  3. 3. www.ashfieldhealthcare.com3 : Part of UDG Healthcare plc We have supported patients in over 30 rare disease areas, including… Acromegaly Hyperparathyroidism Phenylketonuria (PKU) Pulmonary arterial hypertension (PAH) Refractory gout Tardive dyskinesia Familial hypercholesterolemia Hereditary angioedema Refractory multiple myeloma Hypophosphatemia Short bowel syndrome Fabry and Gaucher disease Haemophilia Idiopathic pulmonary fibrosis (IPF) Hunter syndrome Renal cell carcinoma Neuroendocrine tumours Huntington's disease Lupus nephritis Behcet’s disease Niemann Pick Disease Batten disease ALK-positive tumours Spinal muscular dystrophy
  4. 4. www.ashfieldhealthcare.com4 : Part of UDG Healthcare plc As patients live longer with new treatments, there are whole new challenges to respond to Finding specialist care Early development Independence Isolation Transition to adult care Starting a family Co-morbiditiesWorking Life
  5. 5. www.ashfieldhealthcare.com5 : Part of UDG Healthcare plc The burden of diagnosis Misdiagnosis and late diagnosis 40% of rare disease patients are misdiagnosed at least once and it’s a difficult journey nosis/rarediseaseday-globalchallenge.pdf The average length to accurate diagnosis is approximately 4.8 years with medical, economic and social impact Primary care physicians often do not link the symptoms to a rare disease
  6. 6. www.ashfieldhealthcare.com6 : Part of UDG Healthcare plc Raising awareness and initiating diagnosis Working in partnership with advocacy groups Online patient and HCP awareness campaign Outbound contact centre targeting HCPs Posters in physician offices Email/post targeting HCPs Pharmacy intervention HCP education on genetic testing and signposting to specialist centres “At my initial diagnosis, the doctor didn’t really tell me anything, he didn’t know what to say …knew nothing about it…there’s a lot of ignorance around the initial diagnosis, and understanding the overall impact on your life and the length of your life.” Rare disease patient Multichannel awareness campaigns:
  7. 7. www.ashfieldhealthcare.com7 : Part of UDG Healthcare plc Comprehensive patient identification programmes Initial scouting: Contact Centre survey Face-to-face: Diagnosis Service Team Follow-up: Field team or client’s medical department Our Contact Centre reps call thousands of physicians, using a questionnaire to screen for those HCPs likely to have potential patient cases and interested to find out more. Our Diagnosis Service Team makes 12-14 visits per day to deliver materials, key messages and identify physicians keen to engage with our client’s field team. Bypass if screened HCP has a suspected patient
  8. 8. www.ashfieldhealthcare.com8 : Part of UDG Healthcare plc Patients’ need for relevant information It’s challenging to find the right doctor and patients often need to become experts in their own condition Patients’ and caregivers’ communication needs evolve Beyond the pathophysiological and physical impact: emotional and social needs
  9. 9. www.ashfieldhealthcare.com9 : Part of UDG Healthcare plc Communicating with impact Make it relevant! Involve patients Work with health psychologists Personalise Make it interactive Refresh
  10. 10. www.ashfieldhealthcare.com10 : Part of UDG Healthcare plc Thank you for reading a sample of this deck on rare disease challenges. To arrange a presentation of the full deck, including patient videos, please contact: Matt Brierley, VP Medical and Scientific Services Nagore Fernandez, Head of Patient Services, EUCAN