Orphan drugs

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

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


  • 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


  • 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

Neuroendocrine tumours

  • Payer value proposition, payer value dossier and cost-effectiveness model in neuroendocrine tumours (NETs)
  • Development of preference, tolerability and satisfaction PROs for patients with neuroendocrine tumours (NETs)

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

Other rare diseases and orphan drugs

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


  • 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


  • Payer value slide deck on sarcoma
  • Payer frequently asked questions on sarcoma
  • Affiliate market access tools implementation guide in sarcoma

Severe aplastic anaemia

  • Caregiver interviews to support content validity of an ObsRO in a paediatric population with severe aplastic anemia
  • Palatability and acceptability of a treatment in paediatric populations with severe aplastic anemia
  • Development of a scoring algorithm for an acceptability and palatability questionnaire in severe aplastic anemia

Spinal muscular atrophy

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

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

Systemic sclerosis

  • Executive summary slide deck based on an early value evidence dossier in systemic sclerosis
  • Early value dossier with value message proposition in systemic sclerosis

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)

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