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

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

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)

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

Pricing and reimbursement dossier for a treatment for Niemann-Pick disease type-C

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

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

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

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

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

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

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

Real-world evidence toolkit in Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP)

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