Orphan drugs


  • Payer value proposition, payer value dossier and cost effectiveness model in acromegaly
  • Landscape analysis of acromegaly patient registries
  • Adequacy of the Acromegaly Quality of Life Questionnaire (AcroQoL) as an endpoint in acromegaly: endpoint review & strategic recommendations
  • Analysis of PRO data to support clinical trial dissemination activities in acromegaly
  • Consultancy to review acromegaly protocol
  • Exploratory analyses in acromegaly

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

Eosinophilic gastroenteritis

  • Evaluation of COA tools in eosinophilic gastroenteritis (EGE) and eosinophilic gastritis (EG) with additional longitudinal data collection

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

Glucose transporter type 1 deficiency syndrome

  • Qualitative research to explore and support the assessment of the patient experience and impact of functioning of movement disorders in glucose transporter type 1 deficiency syndrome, and literature review in absence seizures