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-plus-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) (e.g. fatigue, pain, icterus) outcomes in people living with SCD utilizing validated, high-quality methods and instruments
•    Characterize the impact of voxelotor on end organ damage (e.g. retina, cardiovascular, pulmonary, bone) in people with SCD
•    Impact of improved hemolysis on inflammation/vasculopathy and/or end organ damage/progression (including clinical and pre-clinical) 
 

Research areas to be considered for Pfizer support from Eligible Countries* include:
•    Approaches for the early identification and follow up of ATTR Cardiac Amyloidosis patients.
•    Real world efficacy and safety of tafamidis in the clinical setting for the management of ATTR Cardiac Amyloidosis. 
•    Evaluation of patients with ATTR Cardiac Amyloidosis presenting with a mixed phenotype (e.g., cardiomyopathy and polyneuropathy).

*Eligible countries: USA, Austria, Argentina, Brazil, Canada, France, Germany, Italy, Japan, Saudi Arabia, Spain, Switzerland, Taiwan, Turkey, United Arab Emirates, United Kingdom.

All applications must meet the following additional requirements, or they will not be considered further for review:
•    Submit a full study protocol that includes a project timeline detailing key milestones and feasibility for completion in 12 months. A presentation/publication plan shall be included with the study protocol.
•    The maximum allowed project duration will be 12 months (start to finish, including submission of a final report).  
     o    The 12-month project clock will start after contracting is complete and ethics committee approval obtained. However:
         •  Inability to contract within 60 days of approval for funding may result in withdrawal of support.
         •  Investigators should submit for ethics committee approval while contracting is underway (if permitted by the country EC), to facilitate project start at the earliest date. 

We are not accepting proposals focusing on:
•    Preclinical/animal studies (including requests for pure substance)
•    Proof of concept investigations
•    Registries for ATTR amyloidosis
•    ATTR polyneuropathy exclusively
•    Head-to-head studies
•    Any indications outside of ATTR amyloidosis
•    Pediatric investigations
•    End stage disease
•    Dose response studies