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

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

Haemophilia

  • Literature review and report on haemophilia B
  • Literature review in haemophilia A
  • Value messages and payer testing for treatment of haemophilia A
  • Budget impact model for haemophilia in Japan
  • Consultancy support for a PRO strategy in haemophilia
  • Critical review of PROs to inform a PRO Strategy for anti–tissue factor pathway inhibitor (Anti-TFPI) in haemophilia A
  • Exit interviews to assess the impact of infusion frequency in haemophilia A
  • Consulting work in haemophilia
  • Systematic review of haemophilia treatments
  • IRB submission for haemophilia patient interviews
  • Development of a compliance questionnaire in haemophilia
  • Development of a novel tool to evaluate patient preference for a reconstitution device for haemophilia A in a real-world setting
  • Testing of a web-based tool to evaluate patient preference for a reconstitution device for haemophilia A in a real-world setting
  • Development of a content-valid life interference questionnaire for haemophilia
  • Patient expert advice meetings – mode of action (MOA) equivalency for hemophilia bleed and infusion diary
  • Patient expert advice meetings – usability for hemophilia bleed and infusion diary

Hereditary angioedema

  • Development of the evidence base regarding treatment patterns, cost and burden of disease for patients with hereditary angioedema to support the use of a new treatment
  • Communications package in hereditary angioedema
  • Clinical endpoint review, recommendations and update of an FDA submission package in hereditary angioedema
  • Hereditary angioedema clinical trial endpoint review, recommendations and FDA PRO submission package
  • Pooled clinical trial validation analysis of a PRO primary endpoint in hereditary angioedema to include in FDA submission package
  • FDA meeting support for a hereditary angioedema submission
  • Evaluation of market research reports in hereditary angioedema to support PRO submission package
  • Analysis of Visual Analogue Scale (VAS) summary scores with Last Observation Carried Forward (LOCF) in hereditary angioedema
  • Psychometric validation analysis of VAS summary scores in hereditary angioedema
  • Patient interviews for the face and content validation of the Patient Global Impression in hereditary angioedema
  • Psychometric validation of the 6-item and 8-item composite severity scores in hereditary angioedema
  • Consulting on the linguistic validation of a hereditary angioedema questionnaire into French, German and Portuguese
  • Cognitive debriefing of a questionnaire in hereditary angioedema patients
  • Validation and modifications to a questionnaire in hereditary angioedema patients
  • Consultancy services for linguistic validation of a hereditary angioedema diary
  • Publication strategy to present the results of studies in hereditary angioedema
  • Patient interviews to support a PRO submission package in hereditary angioedema
  • PRO briefing document in hereditary angioedema
  • Strategic consulting and analysis in hereditary angioedema
  • Re-analysis of patient composite score in hereditary angioedema
  • Training materials for a PRO questionnaire in hereditary angioedema
  • Publication strategy on hereditary angioedema

Homocystinuria

  • Health economic analysis for SMC resubmission in homocystinuria

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

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

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

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
  • Literature review, consensus meeting and mapping of the treatment pathway in adrenoleukodystrophy

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