Literature DB >> 33736655

Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.

Annemarie E M Post1, Thomas Klockgether2,3, G Bernhard Landwehrmeyer4, Massimo Pandolfo5, Astri Arnesen6, Carola Reinhard1, Holm Graessner7,8.   

Abstract

BACKGROUND: Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to prioritize five research themes for rare neurological diseases on a scale ranging from 1 (most important) to 5 (least important). A follow-up e-mail interview was conducted with patient representatives and professionals to assess potential reasons for differences in opinions between these two groups.
RESULTS: In total, 156 responses were analysed: 61 from professionals and 95 from patient representatives. They covered all ERN-RND disease groups and came from 20 different EU countries. Almost half of the respondents considered 'Developing therapies and preventive strategies' the most important research theme. In particular, patient representatives prioritized this theme more often than professionals, while professionals prioritized 'Disease mechanisms and models'. Patient representatives indicated that therapies and prevention were of the utmost importance to them, because their lives are often heavily impacted by the disease and their main goal is to relief the burden of disease. Professionals indicated that investigating disease mechanisms will lead to more knowledge and is indispensable for finding new treatments.
CONCLUSIONS: Patients and professionals have different opinions on which research theme should have priority. A qualitative follow-up shows that they respect each others' view points. Different stakeholders involved in research should be aware of their differences in research theme priority. Explaining these differences to each other leads to more understanding, and could improve patient engagement in research.

Entities:  

Keywords:  Patient involvement; Rare diseases; Research themes

Mesh:

Year:  2021        PMID: 33736655      PMCID: PMC7976714          DOI: 10.1186/s13023-020-01641-z

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  7 in total

1.  Prevention and self-management interventions are top priorities for osteoarthritis systematic reviews.

Authors:  Alejandra Jaramillo; Vivian A Welch; Erin Ueffing; Russell L Gruen; Peter Bragge; Anne Lyddiatt; Peter Tugwell
Journal:  J Clin Epidemiol       Date:  2012-09-18       Impact factor: 6.437

Review 2.  A systematic review of approaches for engaging patients for research on rare diseases.

Authors:  Laura P Forsythe; Victoria Szydlowski; Mohammad Hassan Murad; Stanley Ip; Zhen Wang; Tarig A Elraiyah; Rachael Fleurence; David H Hickam
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

Review 3.  Determining research priorities through partnership with patients: an overview.

Authors:  Lianne Barnieh; Min Jun; Andreas Laupacis; Braden Manns; Brenda Hemmelgarn
Journal:  Semin Dial       Date:  2014-11-30       Impact factor: 3.455

Review 4.  A systematic review of stakeholder engagement in comparative effectiveness and patient-centered outcomes research.

Authors:  Thomas W Concannon; Melissa Fuster; Tully Saunders; Kamal Patel; John B Wong; Laurel K Leslie; Joseph Lau
Journal:  J Gen Intern Med       Date:  2014-06-04       Impact factor: 5.128

Review 5.  Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.

Authors:  Erik Tambuyzer; Benjamin Vandendriessche; Christopher P Austin; Philip J Brooks; Kristina Larsson; Katherine I Miller Needleman; James Valentine; Kay Davies; Stephen C Groft; Robert Preti; Tudor I Oprea; Marco Prunotto
Journal:  Nat Rev Drug Discov       Date:  2019-12-13       Impact factor: 84.694

Review 6.  Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Authors:  Christopher P Austin; Christine M Cutillo; Lilian P L Lau; Anneliene H Jonker; Ana Rath; Daria Julkowska; David Thomson; Sharon F Terry; Béatrice de Montleau; Diego Ardigò; Virginie Hivert; Kym M Boycott; Gareth Baynam; Petra Kaufmann; Domenica Taruscio; Hanns Lochmüller; Makoto Suematsu; Carlo Incerti; Ruxandra Draghia-Akli; Irene Norstedt; Lu Wang; Hugh J S Dawkins
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

7.  DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Authors:  Conceição Bettencourt; Davina Hensman-Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas-Gómez; Lizbeth Esmeralda García-Velázquez; María Elisa Alonso-Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; Peter Holmans; Henry Houlden; Sarah J Tabrizi; Lesley Jones
Journal:  Ann Neurol       Date:  2016-05-06       Impact factor: 10.422

  7 in total
  2 in total

Review 1.  The involvement of rare disease patient organisations in therapeutic innovation across rare paediatric neurological conditions: a narrative review.

Authors:  Christina Q Nguyen; Kristine Alba-Concepcion; Elizabeth E Palmer; Jackie L Scully; Nicole Millis; Michelle A Farrar
Journal:  Orphanet J Rare Dis       Date:  2022-04-18       Impact factor: 4.303

2.  Development of a patient journey map for people living with cervical dystonia.

Authors:  Monika Benson; Alberto Albanese; Kailash P Bhatia; Pascale Cavillon; Lorraine Cuffe; Kathrin König; Carola Reinhard; Holm Graessner
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

  2 in total

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