Orphan drugs

Acromegaly

  • 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

Glioblastoma

  • Development of a global value dossier in the treatment of glioblastoma
  • AMCP dossier in glioblastoma multiforme
  • Early global value dossier in newly diagnosed glioblastoma
  • Clinical trial analyses to support health-related quality of life (HRQoL) in glioblastoma
  • Review of instruments for a glioblastoma trial and recommendation of a strategy
  • PRO dossier on glioblastomas for the EMA
  • Literature review on overall survival and progression-free survival in glioblastomas
  • Poster on the association of HRQoL and NCF with progression-free survival (PFS) and PD in glioblastoma
  • Indirect comparison of two treatments in 2nd line glioblastoma
  • Training slide deck for COAs in glioblastoma

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

GNE myopathy

  • Review and support for the development of a FDA dossier in patients with GNE Myopathy
  • Development of a manuscript describing the GNE Myopathy Functional Activity Scale (GNEM-FAS) validation
  • Development of a user manual for the GNEM-FAS validation
  • Analysis of the GNEM-FAS validation
  • Support for translations of the GNEM-FAS
  • Post-hoc analyses to aid interpretation of change in GNE Myopathy endpoints including the primary endpoint of the strength composite score

Growth hormone deficiency

  • Strategic literature review to select PRO for a paediatric growth hormone deficiency trial
  • Establishing support of content validity for the modified Injection Pen Assessment Questionnaire (IPAQ) in growth hormone deficiency
  • Injection Pen Assessment Questionnaire (IPAQ) field study in growth hormone deficiency

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

Immune thrombocytopenic purpura

  • Analysis and reporting on immune thrombocytopenic purpura
  • Caregiver interviews to support content validity of an ObsRO in a paediatric population with chronic immune thrombocytopenic purpura
  • Palatability and acceptability of a treatment in paediatric populations with chronic immune thrombocytopenic purpura
  • Development of a scoring algorithm for an acceptability and palatability questionnaire in chronic immune thrombocytopenic purpura
  • Literature review and qualitative research to support the content validation of the immune thrombocytopenia quality of life index

Long-chain fatty acid oxidation disorders

  • Qualitative research to explore and support the assessment of the patient experience and impact on functioning of long-chain fatty acid oxidation disorders
  • Qualitative interviews on long-chain fatty acid oxidation disorders

Masseter muscle

  • Development and validation of a PRO for masseter muscle hypertrophy
  • In-trial validation of a PRO for masseter muscle prominence in Canada and Taiwan
  • Development and psychometric evaluation of severity measures in masseter prominence
  • Conceptual equivalency and psychometric evaluation of PRO and ClinRo measures of masseter muscle prominence
  • Interim psychometric evaluation of the lower facial shape questionnaire in masseter muscle hypertrophy