Rare Disease Areas of Interest

Research areas to be considered for funding include:

• Morbidity and mortality in Growth Hormone Excess
• Impact and/or needs of patients with Growth Hormone Excess during the pediatric, transitional years and young adult life
• Novel strategies including Quality of Life and Patient Reported Outcomes to evaluate and treat Growth Hormone Excess
• Early diagnosis and treatment of Growth Hormone Excess
• Pathophysiology of Growth Hormone Excess and/or deficiency and/or action

• Morbidities in growth disorders
• Novel strategies including Quality of Life and Patient Reported Outcomes to evaluate and treat growth disorders
• Comparison of clinical effects of daily vs long-acting growth hormone
• Comparative pathophysiology of daily vs long-acting growth hormone
• Innovative methods to evaluate levels of adherence of daily and long-acting growth hormone treatment
• Novel strategies to address current unmet medical needs in short stature management which could be addressed with long-acting growth hormone treatment

Research areas to be considered for funding include:

• Basic and Clinical Science of Gene Therapy for Hemophilia and other Bleeding Disorders
  • Basic science, tropism, transduction efficiency & tolerability of Adeno-associated virus
  • AAV antibody seroprevalence, titer-assessment, reduction and tolerance
  • Role of immunosuppression in managing immune response and potential retreatment
  • Effect of liver-targeted rAAV vector Gene Therapy on the liver
  • Role of ultrasonography in the long-term monitoring of gene therapy
  • Impact on patient’s lifestyle (e.g. reproduction, alcohol consumption, level of physical activity)
• Basic Science of Tissue Factor Pathway Inhibitor (TFPI) & anti-TFPI Monoclonal Antibodies
  • Basic biology of TFPI interactions
  • Cross talk among regulators (e.g. Protein S being a co-factor for both Protein C and TFPI)
  • Role of different TFPI pools in regulation of coagulation
  • Pharmacology resulting from concomitant therapies added to anti-TFPI
• Burden of Disease: Clinical Hemophilia A or B
  • Natural history of Hemophilia and adherence to current standard of care
  • Arthropathy: presence, development, clinical burden & joint damage in Hemophilia
  • Patient experiences with hemophilia, treatment preferences and quality of care
  • Quality of Life/Work analysis and cost of care in Hemophilia
  • Novel strategies to promote long-term follow-up of patients

Research areas to be considered for Pfizer support include but are not limited to:

• Safety and efficacy of voxelotor in people with non-HbSS genotypes, such as Hemoglobin SC disease, HbS-beta-thalassemia, or Hemoglobin SD or Haplotypes of special interest such as Arab-Indian (including real world data, or pre-clinical studies)
• Characterize the impact of voxelotor on quality of life (QoL) outcomes in people living with SCD utilizing validated, high-quality methods and instruments
• Characterize the impact of voxelotor on vision and retinal outcomes in people with SCD
• Characterize the impact of voxelotor on cardiovascular/pulmonary outcomes in people with SCD
• Characterize the impact of voxelotor on bone outcomes (such as avascular necrosis) in people with SCD
• Effect of voxelotor on markers of inflammation/vasculopathy (including clinical and pre-clinical)
• Explore the role of red blood cell (RBC) health (e.g. improved hemolysis and anemia due to increased RBC lifespan) in SCD progression, end organ damage, and disease modifying therapies
• Identify markers (laboratory, genetic, clinical, etc.) that may be useful in SCD severity stratification

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
• New methodology to accelerate appropriate ATTR CM patient identification including Machine learning/ Artificial Intelligence and new biomarkers
• 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)

Research areas to be considered for funding include:

• Preservation of renal function in kidney transplant patients
• Reduction of post-transplant malignancy
• Reduction of post-transplant viral infections
• Improvement in understanding the management of side effects
• Exploration of the use of sirolimus beyond kidney transplantation

Drug-Supply Only on a case-by-case basis

We are not currenlty accepting proposals focusing on:

• Protocols which would specify drug supply for topical use
• Active Drug substance for clinical use
• Protocols which include product reformation or compounding
• Protocols which request placebo formations