Genetic disorders

Other genetic disorders

  • Health economic analysis for SMC resubmission in homocystinuria
  • Conference poster on the utility of oral versus subcutaneous iron chelation therapy for beta thalassaemia
  • Real-world evidence toolkit in Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP)
  • Market access and HEOR consultancy in 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
  • 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

Spinal muscular atrophy

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

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)

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

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

Sickle cell disease

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

Short stature

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

Haemochromatosis (Iron overload)

  • Consulting on a manuscript on a hereditary haemochromatosis and phlebotomy PRO and market research
  • FDA memo for the development and validation of a screening tool to identify patients with haemochromatosis
  • Utility study for treating for iron overload
  • Submission to the All Wales Medicines Strategy Group (AWMSG) for a treatment for chronic iron overload
  • Submission to SMC for a treatment for chronic iron overload
  • Manuscript on the utility of oral versus subcutaneous iron chelation therapy
  • High level consulting: PRO strategy for reimbursement packages in Europe for iron overload
  • Clinician and patient interviews for a PRO in iron overload
  • Abstacts, posters, analyses, report and manuscript on iron overload
  • High level consulting: PRO strategy for reimbursement packages in iron overload for Italy and France, using satisfaction and self-esteem data
  • PRO analyses and validation manuscript in iron overload
  • Development of a PRO augmentation and manuscript in iron overload
  • Analysis and communications of PRO data from a clinical trial in iron-overload patients receiving iron chelation therapy
  • Communication of PRO data from a clinical trial in iron-overload patients receiving iron chelation therapy

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

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

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

Mucopolysaccharidosis

  • Understanding the experience of the mucopolysaccharidosis I (MPS I) patient to improve outcome assessments: evidence from the literature and treatment experts
  • Cognitive debriefing interviews on the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ)
  • Evaluating the MPS-HAQ for use in patient registries to support EMA regulatory commitments

Metachromatic leukodystrophy

  • Understanding and documenting the disease burden of metachromatic leukodystrophy
  • Support of patient survey study development among patients with metachromatic leukodystrophy
  • Web-based survey implementation and analytic consulting support in metachromatic leukodystrophy
  • Clinical outcome assessment strategy development and validation in metachromatic leukodystrophy

Hunter’s syndrome

  • Exploration of IQ as a relevant endpoint in Hunter’s syndrome
  • Endpoint review in Hunter’s syndrome
  • PRO dossier on the Disease Activity Score (DAS), Scales of Independent Behaviour-Revised (SIB-R), Behaviour Rating Inventory of Executive Function (BRIEF) and Vineland Adaptive Behaviour Scales (VABS) for Hunter’s syndrome
  • Strategic PRO and ObsRO analysis of a Hunter’s Syndrome clinical trial database
  • Regulatory support for questionnaires in Hunter’s syndrome