Genetic disorders

Barth syndrome

  • Concept elicitation interviews in Barth syndrome patients
  • Concept selection meeting for a PRO in Barth syndrome
  • Cognitive debriefing for Barth syndrome PROs
  • Qualitative concept elicitation and case studies documenting the disease progression of Barth Syndrome

Cystic fibrosis

  • FDA PRO consulting for cystic fibrosis
  • Gap analysis and strategic recommendations for the Cystic Fibrosis Questionnaire-Revised (CFQ-R)
  • Model of cystic fibrosis disease progression

Down’s syndrome

  • Development of a COA strategy for Down’s syndrome in adults and children
  • Clinical meaningfulness of scores on the Vineland Adaptive Behaviour Scale (VABS-II), Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) and Clinician Global Impression (CGI) in Down’s syndrome
  • Strategic literature review to identify COA instruments to assess the concept of independence in Down’s syndrome
  • Qualitative interviews and development of a COA strategy for Down’s syndrome in adults and children
  • Subgroup analysis by chronological age of individuals with Down’s syndrome

Duchenne muscular dystrophy

  • Gap analysis of clinical outcome assessments and natural history of duchenne muscular dystrophy
  • Qualitative interviews with patients, caregivers and clinicians to define a clinician global impression of change item for duchenne muscular dystrophy

Fabry’s disease

  • Global value dossier in the treatment of Fabry’s disease
  • Strategic literature review in Fabry’s disease
  • Development of a PRO questionnaire to assess gastrointestinal symptoms of Fabry’s disease
  • Survey administration in an observational study to evaluate gastrointestinal symptoms of Fabry’s disease
  • Strategic consultancy on a protocol for Fabry’s disease
  • Consulting agreement and communication in Fabry’s disease
  • Strategic consultancy in gastrointestinal symptoms of Fabry’s disease
  • Cognitive debriefing of the Gastrointestinal Symptom Rating Scale Diarrhoea Domain in patients with Fabry disease

Fragile X syndrome

  • Consultancy support for clinical trials in Fragile X syndrome
  • Literature review to develop a conceptual model for individuals with Fragile X syndrome (aged 5-12 years old)

Gaucher’s disease

  • Payer research to understand evidence requirements for reimbursement in Gaucher’s disease
  • HTA recommendations analysis in Gaucher’s disease
  • Development and validation of a questionnaire in Gaucher’s disease