Rare Diseases, European and UK approaches: setting the scene Dr - PowerPoint PPT Presentation

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Rare Diseases, European and UK approaches: setting the scene Dr Julian Thomas Great North Children’s Hospital Newcastle UK

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Bearing in mind… • Rare disease 1:2000 • Very rare disease 1:100,000 In Paediatric Gastroenterology, Hepatology and Nutrition, most disease are “rare”

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Why view rare diseases differently? • Collectively, large numbers of cases of rare diseases occur (3.5 million in UK at some point in their lives) • Advances in treatment clearly map to coordinated research • Common themes between rare disease

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network European & UK initiatives • European Commission Communication 2008. Rare Diseases : Europe’s Challenge • Adopted unanimously by each member state June 2009 • Member States to adopt plans or strategies by 2013 • EURORDIS; summer school began July 2008, now annual, July 11-15 2016, Barcelona www.eurodis.org

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Recommendations joint RDUK/AMRC workshop Dec 2010: Recommendation 1 • Develop clinical research networks for rare disorders • Established research networks should support rare disease research • Existing networks should help develop new networks

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network UK initiatives: patient initiatives • RDUK November 2008 (www.raredisease.org.uk) • James Lind Alliance (www.lindalliance.org) Aims to facilitate patient led research ; rare disease initiative, bone disease, inherited anaemias, and uncertainities common to all areas. • Good example for congenital anaemias: www.togetherwecan.uk/basic/inherited.php

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network UK initiatives: public/industry funded schemes • UK Rare disease forum (5 th meeting 19 June 2015) • DoH, NHS England, PH England, INVOLVE, Genetic Alliance, Assn BPI, Reps from Wales & N Ireland • Personal Care Plans, support specialist centres, improve education and training, promote UK as world leader in R&D in the field • A sense of momentum!

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network UK initiatives: public/industry funded schemes • NIHR sponsored Rare Disease initiative: Paediatrics cross cutting theme http://rd.trc.nihr.ac.uk • Renewal bid in progress • Industry Collaborative Call, EOI open • Pfizer Rare Disease Consortium

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Examples of good Practice:Treat-NMD network, established 2007, 5 year EU funding grant • Produced and disseminated care standards • Registries of patients, outcome measures • Communications infrastructure • Network of care and trial sites • DNA cell and tissue biobanks Has had a direct beneficial impact upon patients with diseases such as Duchenne’s muscular dystrophy and spinal muscular atrophy

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Emerging possibilities • Paed E-Bans • National (UK) registry of children with intestinal failure, launched April 2015 • Complete ascertainment of all cases of Paediatric Intestinal Failure in UK

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Main research message, European & UK Rare Disease Initiatives over past decade European clinical networks are key to informing and developing research into rare diseases

Rare Diseases, European and UK approaches: setting the scene Dr - PowerPoint PPT Presentation

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Rare Diseases, European and UK approaches: setting the scene Dr Julian Thomas Great North Childrens Hospital Newcastle UK PEDDCReN Paediatric European Digestive

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Rare Diseases, European and UK approaches: setting the scene Dr - PowerPoint PPT Presentation

PEDDCReN Paediatric European Digestive Diseases Clinical Research Network Rare Diseases, European and UK approaches: setting the scene Dr Julian Thomas Great North Childrens Hospital Newcastle UK PEDDCReN Paediatric European Digestive

Rare cancers What is the problem, and how big is it? Rare (orphan) diseases NIH Office for Rare

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