Rare Disease Pipeline

An Unwavering Commitment to Patients and Ethical Research

Pfizer's mission is to deliver medicines that make a real difference in quality of life for patients with rare disease. Scientists in our research and development (R&D) programs are committed to speeding the delivery of new treatments. We pledge to maintain the safety of patients who take part in our trials and to uphold the highest ethical standards in all of our research initiatives.

On this page, you will find more information about our 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 & Trials

Compound Name	Indication	Phase	Submission Type	Compound Type
Vyndaqel (tafamidis meglumine and free acid) Therapeutic Area: Rare Diseases Phase:Registration Compound Type:Small Molecule Business Segment: Biopharma Mechanism of Action: Transthyretin (TTR) Dissociation Inhibitor Go to clinical trial	Transthyretin Amyloid Cardiomyopathy (E.U.) ORPHAN - E.U.)	Registration	Product Enhancement	Small Molecule
Vyndaqel (tafamidis meglumine) Therapeutic Area: Rare Diseases Phase:Registration Compound Type:Small Molecule Business Segment: Biopharma Mechanism of Action: Transthyretin (TTR) Dissociation Inhibitor Go to clinical trial	Transthyretin familial amyloid polyneuropathy (U.S.) (FAST TRACK, ORPHAN - U.S.)	Registration	New Molecular Entity	Small Molecule
fidanacogene elaparvovec (PF-06838435) Therapeutic Area: Rare Diseases Phase:Phase 3 Compound Type:Biologic Business Segment: Biopharma Mechanism of Action: Gene Therapy, coagulation factor IX (F9) Go to clinical trial	Hemophilia (Biologic) (BREAKTHROUGH, ORPHAN - U.S., E.U., PRIME - E.U.)	Phase 3	New Molecular Entity	Biologic
PF-06802861 Therapeutic Area: Rare Diseases Phase:Phase 3 Compound Type:Small Molecule Business Segment: Biopharma Mechanism of Action: p38 Mitogen-Activated Protein Kinase Go to clinical trial	Dilated Cardiomyopathy due to Lamin A/C Gene Mutation Project advanced	Phase 3	New Molecular Entity	Small Molecule
rivipansel (GMI-1070) Therapeutic Area: Rare Diseases Phase:Phase 3 Compound Type:Small Molecule Business Segment: Biopharma Mechanism of Action: Pan-Selectin Antagonist Go to clinical trial	Acute vaso-occlusive crises associated with sickle cell disease in patients aged 6 years and above (FAST TRACK, ORPHAN - U.S., E.U.)	Phase 3	New Molecular Entity	Small Molecule
somatrogon (PF-06836922) Therapeutic Area: Rare Diseases Phase:Phase 3 Compound Type:Biologic Business Segment: Biopharma Mechanism of Action: Human Growth Hormone Agonist Go to clinical trial	Adult Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)	Phase 3	New Molecular Entity	Biologic
somatrogon (PF-06836922) Therapeutic Area: Rare Diseases Phase:Phase 3 Compound Type:Biologic Business Segment: Biopharma Mechanism of Action: Human Growth Hormone Agonist Go to clinical trial	Pediatric Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)	Phase 3	Product Enhancement	Biologic
marstacimab (PF-06741086) Therapeutic Area: Rare Diseases Phase:Phase 2 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: Tissue Factor Pathway Inhibitor (TFPI) Go to clinical trial	Hemophilia (Biologic) (ORPHAN - U.S., E.U.)	Phase 2	New Molecular Entity	Biologic
PF-06730512 Therapeutic Area: Rare Diseases Phase:Phase 2 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: SLIT2 antagonist Go to clinical trial	Focal Segmental Glomerulosclerosis (FSGS) (Biologic)	Phase 2	New Molecular Entity	Biologic
PF-07055480 (SB-525) Therapeutic Area: Rare Diseases Phase:Phase 2 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: AAV-FVIII GTx Go to clinical trial	Hemophilia (Biologic) (RMAT, FAST TRACK, ORPHAN - U.S.; ORPHAN - E.U.)	Phase 2	New Molecular Entity	Biologic
PF-04447943 Therapeutic Area: Rare Diseases Phase:Phase 1 Compound Type:Small Molecule Business Segment: WRDM Mechanism of Action: PDE9 Inhibitor Go to clinical trial	Sickle Cell Anemia (ORPHAN - U.S.)	Phase 1	New Molecular Entity	Small Molecule
PF-05230907 Therapeutic Area: Rare Diseases Phase:Phase 1 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: Factor Xa Protein Replacement Go to clinical trial	Intracerebral Hemorrhage (Biologic) (ORPHAN - U.S.)	Phase 1	New Molecular Entity	Biologic
PF-06755347 Therapeutic Area: Rare Diseases Phase:Phase 1 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: Immunomodulation Go to clinical trial	Chronic Inflammatory Demyelination Polyneuropathy	Phase 1	New Molecular Entity	Biologic
PF-06939926 Therapeutic Area: Rare Diseases Phase:Phase 1 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: minidystrophin Go to clinical trial	Duchenne Muscular Dystrophy (Biologic) (ORPHAN - U.S., E.U.)	Phase 1	New Molecular Entity	Biologic
recifercept Therapeutic Area: Rare Diseases Phase:Phase 1 Compound Type:Biologic Business Segment: WRDM Mechanism of Action: Soluable recombinant human fibroblast growth factor receptor 3 (FGFR3) decoy Go to clinical trial	Achondroplasia (Biologic)	Phase 1	New Molecular Entity	Biologic