Generating health technology assessment evidence for rare diseases

International Journal of Technology Assessment in Health Care

Volumn 30, Issue 4, 2014, Pages 416-422

  Facey, Karen ^a   Granados, Alicia ^b   Guyatt, Gordon ^c   Kent, Alastair ^d   Shah, Nilay ^e   Van Der Wilt, Gert Jan ^f   Wong Rieger, Durhane ^g  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b UNIVERSITY OF BARCELONA   (Spain)

^c MCMASTER UNIVERSITY   (Canada)

^d GENETIC ALLIANCE UK   (United Kingdom)

^e MAYO CLINIC   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Canadian Organization for Rare Disorders   (Canada)

Author keywords

Patient outcome assessment; Rare diseases; Research design; Technology assessment

Indexed keywords

DESIGN; DESIGN OF EXPERIMENTS; PATIENT TREATMENT; RANDOM PROCESSES;

BAYESIAN TECHNIQUES; HEALTH TECHNOLOGY ASSESSMENTS; OUTCOME ASSESSMENT; PATIENT-REPORTED OUTCOMES; QUALITATIVE RESEARCH; RARE DISEASE; RESEARCH DESIGNS; TECHNOLOGY ASSESSMENTS;

DISEASES;

ARTICLE; BAYES THEOREM; BIOMEDICAL TECHNOLOGY ASSESSMENT; CLINICAL EFFECTIVENESS; CONSENSUS; CROSSOVER PROCEDURE; DOUBLE BLIND PROCEDURE; FABRY DISEASE; FOLLOW UP; GOLD STANDARD; HUMAN; METHODOLOGY; OUTCOME ASSESSMENT; PHENYLKETONURIA; QUALITATIVE RESEARCH; QUALITY OF LIFE; RANDOMIZATION; RANDOMIZED CONTROLLED TRIAL (TOPIC); RARE DISEASE; REGISTER; SAMPLE SIZE; SEQUENTIAL ANALYSIS; STUDY DESIGN; SYSTEMATIC REVIEW (TOPIC); WELLBEING; PROCEDURES;

HUMANS; RANDOMIZED CONTROLLED TRIALS AS TOPIC; RARE DISEASES; RESEARCH DESIGN; TECHNOLOGY ASSESSMENT, BIOMEDICAL;

EID: 84923593364     PISSN: 02664623     EISSN: 14716348     Source Type: Journal    
DOI: 10.1017/S0266462314000464     Document Type: Article

References (23)

1. Aymé S, Rodwell C eds 2012 Report on the state of the art of rare disease activities in Europe of the European Union Committee of Experts on Rare Diseases. Brussels: European Commission; 2012
2. Joppi R, Bertele V, Garattini S. Orphan drugs orphan diseases. The first decade of orphan drug legislation in the EU. Eur J Clin Pharmacol. 2012;69:1009-1024
3. Dupont A, van Wilder P. Access to orphan drugs despite poor quality of evidence. Br J Clin Pharmacol. 2011;71:488-496
4. Institute for Quality and Efficacy in Healthcare (IQWiG). What type of evidence is currently being considered in the development of clinical practice guidelines for rare diseases?. (English Translation of Executive Summary). Cologne: Commission No. V10-01, 2011
5. Whitehead J. The design and analysis of sequential clinical trials. 2nd ed. Chichester: Ellis Horwood; 1992
6. Honkanen V, Siegel A, Szalai J, et al. A three-stage clinical trial design for rare disorders. Stat Med. 2001;20:3009-3021
7. Dragalin V. An introduction to adaptive designs and adaptation in CNS trials. Eur Neuropsychopharmacol. 2011;21:153-158
8. Food and Drug Administration. Draft guidance for industry on adaptive design clinical trials for drugs and biologics. Maryland: US Department of Health and Human Services; 2010
9. Sackett D, Haynes R, Guyatt G, Tugwell P. Clinical epidemiology: A basic science for clinical medicine. 2nd ed. Toronto: Little Brown and Company; 1991:223-238
10. Zucker D, Ruthazer R, Schmid C. Individual (N-of-1) trials can be combined to give population comparative treatment effect estimates:Methodologic considerations. J Clin Epidemiol. 2010;63:1312-1323
11. Huber A, Tomlinson G, Koren G, Feldman B. Amitryptiline to relieve pain in juvenile idiopathic arthritis: A pilot study using Bayesian metaanalysis of multiple N-of-1 clinical trials. J Rheumatol. 2007;34:1125-1132
12. Connock M, Burls A, Frew E, et al. The clinical effectiveness and costeffectiveness of enzyme replacement therapy for Gaucher's disease: A systematic review. Health Technol Assess. 2006;10:iii-iv.
13. Hansen H, Lee A. Patient aspects and involvement in HTA: An academic perspective. Pharm Policy Law. 2011;13:123-128
14. Devlin N, Appleby J. Getting the most out of PROMS. Putting health outcomes at the heart of NHS decision-making. London: The King's Fund; 2010
15. van derBeek N, Hagemans M, van der Ploeg A, van Doorn P, Merkies I. The Rasch-built Pompe-specific Activity (R-Pact) scale. Neuromuscul Disord. 2013;23:256-264
16. Wyatt K, Henley W, Anderson L, et al. The effectiveness and costeffectiveness of enzyme and substrate replacement therapies: A longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess. 2012;16:1-543
17. Guyatt G, Juniper E, Walter S, Griffith LE, Goldstein RS. Interpreting treatment effects in randomised trials. BMJ. 1998;316:690-693
18. Guyatt G, Sackett D, Taylor W, et al. Determining optimal therapy - randomized trials in individual patients. N Engl J Med. 1986;314:889-892
19. Facey K. Patient involvement in HTA:What added value?. HTA and Rare Diseases - Pharm Policy Law. 2011;13:245-251
20. Malterud K. Qualitative research: Standards challenges and guidelines. Lancet. 2001;358:483-488
21. Kruer M, Steiner R. The role of evidence-based medicine and clinical trials in rare genetic disorders. Clin Genet. 2008;74:197-207
22. Committee on HumanMedicinal Products. Guideline on clinical trials in small populations. Efficacy working party. London: European Medicines Agency; 2006
23. Field M, Boat T, eds. Institute of Medicine. Rare diseases and orphan products - accelerating research and development.Atlanta GA: National Academies Press; 2010