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Rare Disease Research and Clinical Trials

An Unwavering Commitment to Patients and Ethical Research

Pfizer's mission is to deliver medicines that can make a real difference for people living with a rare disease. We pledge to maintain the safety of patients who take part in our rare disease clinical trials and to uphold the highest ethical standards in all of our research initiatives. Our Research and Development (R&D) Scientists are committed to delivering new treatments.

On this page, you will find more information about our rare disease pipeline, which investigational therapies are under development, and in which stages. Search here to learn more about clinical trials in your area and for the investigational therapies in which you are most interested.

Rare Disease Pipeline as of January 31, 2023

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    PF-06755347 | New project

    • Phase 1
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Discontinued
    Chronic Inflammatory Demyelinating Polyneuropathy (ORPHAN-US); Primary Immune Thrombocytopenia (Biologic)

    Immunomodulation

    VTX-801 | Project advanced

    • Phase 1
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Wilson Disease (Biologic)

    Recombinant AAV (rAAV) vector-based gene therapy

    PF-07209326 | New project

    • Phase 1
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Sickle Cell Disease (Biologic) (ORPHAN - U.S.)

    Anti-E-selectin inhibitor

    recifercept | New project

    • Phase 2
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Discontinued
    Achondroplasia (Biologic) (ORPHAN - U.S., EU)

    Soluble recombinant human fibroblast growth factor receptor 3 (FGFR3) decoy

    Voxelotor | Project advanced

    • Phase 2
    • Rare Diseases
    • Product Enhancement
    • Small Molecule
    • Current
    Sickle Cell Disease - Pediatric

    HbS polymerization inhibitor

    GBT021601 | New project

    • Phase 2
    • Rare Diseases
    • New Molecular Entity
    • Small Molecule
    • Current
    Sickle Cell Disease (ORPHAN - U.S.)

    HbS polymerization inhibitor

    PF-06730512 | New project

    • Phase 2
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Focal Segmental Glomerulosclerosis (FSGS) (Biologic)

    Fusion protein containing SLIT ligand portion of ROBO2 receptor

    Paxlovid | New project

    • Phase 3
    • Rare Diseases
    • Product Enhancement
    • Small Molecule
    • Discontinued
    COVID-19 Infection (post exposure prophylaxis)

    SARS-CoV-2 3CL protease inhibitor (oral COVID-19 treatment)

    Paxlovid | New project

    • Phase 3
    • Rare Diseases
    • Product Enhancement
    • Small Molecule
    • Discontinued
    COVID-19 infection (standard risk population)

    SARS-CoV-2 3CL protease inhibitor (oral COVID-19 treatment)

    Inclacumab | New project

    • Phase 3
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Sickle Cell Disease (Biologic) (ORPHAN - U.S.)

    Anti-P-selectin inhibitor

    marstacimab (PF-06741086) | New project

    • Phase 3
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Hemophilia (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

    Anti-tissue factor pathway inhibitor

    fordadistrogene movaparvovec (PF-06939926) | New project

    • Phase 3
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Duchenne Muscular Dystrophy Ambulatory (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

    Gene therapy, minidystrophin

    somatrogon (PF-06836922) | New project

    • Phase 3
    • Rare Diseases
    • Product Enhancement
    • Biologic
    • Current
    Adult Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)

    Human growth hormone agonist

    giroctocogene fitelparvovec (PF-07055480) | New project

    • Phase 3
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Hemophilia (Biologic) (RMAT, FAST TRACK, ORPHAN - U.S., E.U.)

    Gene therapy, coagulation factor VIII (F8)

    fidanacogene elaparvovec (PF-06838435) | New project

    • Phase 3
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Hemophilia (Biologic) (RMAT, BREAKTHROUGH, ORPHAN - U.S., E.U., PRIME - E.U.)

    Gene therapy, coagulation factor IX (F9)

    somatrogon (PF-06836922) | New project

    • Registration
    • Rare Diseases
    • New Molecular Entity
    • Biologic
    • Current
    Pediatric Growth Hormone Deficiency (Biologic) (ORPHAN - U.S.)

    Human growth hormone agonist

    • 00Phase 1
    • 00Phase 2
    • 00Phase 3
    • 00Registration
    • 00Total

    Rare Disease Pipeline & Trials

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