title: PATIENT-REPORTED OUTCOMES IN RARE LYSOSOMAL STORAGE DISEASES: KEY INFORMANT INTERVIEWS AND A SYSTEMATIC REVIEW PROTOCOL.
abstract: OBJECTIVE
  To investigate the use, challenges and opportunities associated with using patient-reported outcomes (PROs) in studies with patients with rare lysosomal storage diseases (LSDs), we conducted interviews with researchers and health technology assessment (HTA) experts, and developed the methods for a systematic review of the literature. The purpose of the review is to identify the psychometrically sound generic and disease-specific PROs used in studies with patients with five LSDs of interest: Fabry, Gaucher (Type I), Niemann-Pick (Type B) and Pompe diseases, and mucopolysaccharidosis (Types I and II).
  
  
  METHODS
  Researchers and HTA experts who responded to an email invitation participated in a telephone interview. We used qualitative content analysis to analyze the anonymized transcripts. We conducted a comprehensive literature search for studies that used PROs to investigate burden of disease or to assess the impact of interventions across the five LSDs of interest.
  
  
  RESULTS
  Interviews with seven researchers and six HTA experts representing eight countries revealed five themes. These were: (i) the importance of using psychometrically sound PROs in studies with rare diseases, (ii) the paucity of disease-specific PROs, (iii) the importance of having PRO data for economic analyses, (iv) practical and psychometric limitations of existing PROs, and (v) suggestions for new PROs. The systematic review has been completed.
  
  
  CONCLUSIONS
  The interviews highlight current challenges and opportunities experienced by researchers and HTA experts involved in work with rare LSDs. The ongoing systematic review will highlight the experience, opportunities, and limitations of PROs in LSDs and provide suggestions for future research.
authors.affiliation: School of Rehabilitation Science,McMaster Universitypmiller@mcmaster.ca.
authors.forename: Patricia A
authors.identifier: http://orcid.org/0000-0002-6679-8014
authors.initials: PA
authors.lastname: Miller
authors.affiliation: Clinical Epidemiology and Biostatistics,McMaster University.
authors.forename: Sohail M
authors.initials: SM
authors.lastname: Mulla
authors.affiliation: The Hospital for Sick Children.
authors.forename: Thomasin
authors.identifier: http://orcid.org/0000-0003-4623-7225
authors.initials: T
authors.lastname: Adams-Webber
authors.affiliation: Department of Medicine,McMaster University.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Sivji
authors.affiliation: Clinical Epidemiology and Biostatistics,McMaster University.
authors.forename: Gordon H
authors.initials: GH
authors.lastname: Guyatt
authors.affiliation: The Hospital for Sick Children.
authors.forename: Bradley C
authors.initials: BC
authors.lastname: Johnston
mesh_terms: D006801:Humans; D007407:Interviews as Topic; D016464:Lysosomal Storage Diseases / Q000628:therapy*; D000071066:Patient Reported Outcome Measures; D011594:Psychometrics; D035583:Rare Diseases / Q000628:therapy*; D015203:Reproducibility of Results; D012107:Research Design; D012108:Research Personnel / Q000458:organization & administration; D013673:Technology Assessment, Biomedical / Q000458:organization & administration* / Q000592:standards; D000078202:Systematic Reviews as Topic
keywords: Lysosomal storage diseases; Patient-reported outcomes; Qualitative research; Systematic review