Rare Disease Areas of Interest

Research areas to be considered for funding include:

• Morbidity and mortality in patients with Acromegaly/GH Excess
• Novel strategies including Quality of Life and Patient Reported Outcomes to evaluate and treat acromegaly/GH Excess
• Early diagnosis and treatment of acromegaly/GH Excess; consequences of late diagnosis/treatment initiation
• Pharmacoeconomics such as but not limited to resource utilization; patient-reported outcomes; treatment patterns
• Preclinical studies (Material Transfer Agreements with funding request) would be considered in the ISR program

Research areas to be considered for Pfizer support include:

• Basic Science of Gene Therapy for Hemophilia
  • Basic science, tropism, transduction efficiency & tolerability of Adeno-associated virus
  • AAV antibody Titer assessment, reduction, tolerance
  • Role of immunosuppression in managing transaminitis
• Patients with MILD Hemophilia A or B
  • Natural history of mild Hemophilia
  • Arthropathy: presence, development, clinical burden & Joint damage in mild Hemophilia
  • Quality of Life/Work analysis and cost of care in mild Hemophilia
  • Development and validation of PRO (Patient Reported Outcomes) instruments in Hemophilia

Research areas to be considered for Pfizer support include:

• Early identification, evaluation, diagnosis, prognosis & treatment
• Natural history
• Epidemiology
  • Prevalence of TTR amyloidosis among at-risk populations (e.g. carpal tunnel syndrome, aortic stenosis, hypertrophic cardiomyopathy, lumbar spinal stenosis, hip & knee arthroplasty, atrial fibrillation)
  • Changing epidemiology of cardiac amyloid subtypes (hereditary vs wild-type)
• Scintigraphy
  • Use of scintigraphy for diagnosis of early disease and/or monitoring disease progression
  • Phenotype and management of patients with Perugini Grade 1 uptake
• Post organ transplant
  • Use of tafamidis
  • Natural course of disease
• Study of hereditary ATTR genotypes and phenotypes
  • Non-Val30Met genotypes
  • Val122Ile, Thr60Ala, Val30Met, and others
• Late-onset disease (onset after 50 years of age)
• Mixed phenotypic manifestations (e.g. polyneuropathy and cardiomyopathy)
• Development of new quality of life measures or patient report outcomes measures in ATTR amyloidosis
• Use of tafamidis in the clinical setting (i.e. real world evidence)
• Functional role of TTR in humans or non-human primates

We are not currently accepting proposals focusing on:

• Head to head studies
• Any indications outside of TTR amyloidosis
• Pediatric investigations
• End stage disease
• Dose response studies
• Tafamidis Animal studies (except requests for pure substance only)