Genetic disorders

Phenylketonuria

  • Value dossier update for a treatment in phenylketonuria (PKU)
  • Updating of a cost manuscript for PKU
  • Value strategy, landscape analysis, health economic model and value dossier development for PKU
  • Development of a poster on a Delphi Panel in PKU
  • Payer research, payer/KOL interviews and rapid assessment of an opportunity in PKU
  • Measurement strategy consulting for endpoint hierarchy development in PKU
  • FDA briefing document to support a client’s phase III study measurement strategy in PKU
  • Outcomes interviews in PKU, resource use and impact on patients

Sanfilippo syndrome

  • Payer research into a new treatment for mucopolysaccharidosis III (San Filippo syndrome)
  • Preliminary consulting on endpoints in San Filippo syndrome
  • Endpoint review and caregiver interviews in San Filippo syndrome
  • Participation in a meeting to provide consultation on a paediatric PRO in San Filippo syndrome
  • Strategic PRO and ObsRO analysis of a San Filippo natural history study database

Short stature

  • Gap analysis of the Quality of Life in Short Stature Youth (QOLISSY) questionnaire in small for gestational age patients

Sickle cell disease

  • Development of a PRO questionnaire in sickle cell disease
  • Exit interviews in sickle cell disease

Spinal muscular atrophy

  • Qualitative research to support development of a conceptual model and COA strategy in spinal muscular atrophy

Thalassemia

  • Conference poster on the utility of oral versus subcutaneous iron chelation therapy for beta thalassaemia
  • In-trial analyses of two treatments in thalassemia (TASTE-PRO)
  • Manuscript support in thalassemia (TASTE-PRO)
  • Modification of a satisfaction questionnaire for patients with thalassaemia receiving phlebotomy or oral therapy
  • Clinical Trial analysis of PRO questionnaires in thalassaemia patients

Tuberous sclerosis complex

  • Review and input into a statistical analysis plan and two clinical study reports in relation to PRO analyses for a trial of an adjunctive therapy in patients with tuberous sclerosis complex who have refracory partial-onset seizures
  • Post hoc analyses for a trial of an adjunctive therapy in patients with tuberous sclerosis complex who have refractory partial-onset seizures
  • Review of PRO extension data in a trial of an adjunctive therapy in patients with tuberous sclerosis complex who have refractory partial-onset seizures
  • Development of a web-based survey for patients with tuberous sclerosis complex or their caregivers
  • Development of a patient and caregiver web-based survey on health state utilities for patients with tuberous sclerosis complex, and communication strategy
  • Post-hoc analysis of PRO extension data in an EXIST-3 trial in tuberous sclerosis complex

Von Willebrand disease

  • Development and validation of a PRO measure in von Willebrand disease and haematology
  • Pre-validation work to inform a clinical trial in von Willebrand disease
  • In-trial validation of a PRO instrument in von Willebrand disease

X-linked hypophosphatemia (XLH)

  • Development of an FDA dossier in X-Linked Hypophosphatemia (XLH)
  • Validation activities of an FDA dossier in XLH
  • Psychometric validation of the Brief Pain Inventory (BPI) and Western Ontario and McMaster osteoarthritis index (WOMAC) in XLH using online survey data
  • Exploration of content validity of PROMIS items for use in children with XLH
  • Psychometric evaluation of the BPI-SF and WOMAC in XLH using phase III trial data