Orphan drugs


  • 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


  • 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

Other orphan drugs and rare diseases

  • Presentation on the challenges and solutions of selecting and developing endpoints for use in paediatric populations and rare diseases
  • Measurement strategy to demonstrate efficacy of medical devices in patients with pigmented villonodular synovitis (PVNS) or tenosynovial giant cell tumour (dTGCT)

Systemic mastocytosis

  • Statistical analysis of a clinical trial PRO and ClinRO data in advanced systemic mastocytosis
  • Conference abstract and poster for a PRO analysis in advanced systemic mastocytosis
  • PRO questionnaire development for symptoms of aggressive and indolent systemic mastocytosis
  • Development of a PRO questionnaire in indolent systemic mastocytosis – Longitudinal data collection
  • Psychometric evaluation and regulatory dossier on indolent systemic mastocytosis (ISM-SAF)
  • Observational study to inform the use of the ISM-SAF as a clinical trial screening tool in indolent systemic mastocytosis
  • Longitudinal data analyses and development of a PRO questionnaire in indolent systemic mastocytosis

Spinal muscular atrophy

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

Systemic sclerosis / Scleroderma

  • Review of PROs in systemic sclerosis/scleroderma
  • Brief literature review to inform endpoint strategy recommendations for interstitial lung disease in systemic sclerosis (SSc-ILD)

Neurogenic orthostatic hypotension

  • Defence of the use of the Orthostatic Hypotension Questionnaire (OHQ) to demonstrate treatment benefit and labelling claim in neurogenic orthostatic hypotension
  • Validation of the OHQ in neurogenic orthostatic hypotension using clinical trial data
  • Key opinion leader interviews on neurogenic orthostatic hypotension
  • Evaluation of the current measurement strategy in neurogenic orthostatic hypotension

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

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

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

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

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

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


  • Global value dossier and e-v@luate platform for a treatment in myelofibrosis
  • Quality of life analysis, value proposition and value messages for a treatment in myelofibrosis
  • Modification of a web-based patient survey to assess QoL, economic impact and work productivity for patients with myeloproliferative neoplasms
  • Development and documentation of a PRO questionnaire for use among patients with myelofibrosis in second line treatment
  • Score interpretation guidance on the use of the Myelofibrosis Symptom Assessment Form (MF-SAF) diary in treatment resistant patients
  • Post-hoc analysis of PRO outcomes in a phase II clinical trial in myeloid metaplasia