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.

PF-06755347 | New project

Idiopathic thrombocytopenicpurpura/Chronic Inflammatory Demyelination Polyneuropathy (Biologic) (ORPHAN - U.S.)

Immunomodulation

PF-07209326 | New project

Sickle Cell Disease (Biologic) (ORPHAN - U.S.)

E-Selectin antagonist

PF-07059013 | New project

Sickle Cell Disease (ORPHAN - U.S.)

Hemoglobin, Beta (HBB) Modulator

PF-06730512 | New project

Focal Segmental Glomerulosclerosis (FSGS); ROBO2-Fc (Biologic)

SLIT2 antagonist

recifercept | New project

Achondroplasia (Biologic) (ORPHAN - U.S., EU)

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

PF-07265803 | New project

Dilated Cardiomyopathy due To Lamin A/C Gene Mutation (ORPHAN - U.S.)

p38 Mitogen-Activated Protein Kinase Antagonist

fidanacogene elaparvovec(PF-06838435) | New project

Hemophilia (Biologic) (BREAKTHROUGH, ORPHAN - U.S., E.U., PRIME - E.U.)

Gene Therapy, coagulation factor IX (F9)

Go to clinical trial

giroctocogene fitelparvovec (PF-07055480) | New project

Hemophilia (Biologic) (RMAT, FAST TRACK, ORPHAN - U.S., E.U.)

Gene Therapy, coagulation factor VIII (F8)

Go to clinical trial

somatrogon (PF-06836922) | New project

Adult Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)

Human Growth Hormone Agonist

Go to clinical trial

fordadistrogene movaparvovec (PF-06939926) | New project

Duchenne Muscular Dystrophy Ambulatory (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

Gene Therapy, minidystrophin

Go to clinical trial

marstacimab (PF-06741086) | New project

Hemophilia (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

Tissue Factor Pathway Inhibitor (TFPI)

somatrogon (PF-06836922) | New project

Pediatric Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)

Human Growth Hormone Agonist

Rare Disease Research and Clinical Trials

An Unwavering Commitment to Patients and Ethical Research

Idiopathic thrombocytopenicpurpura/Chronic Inflammatory Demyelination Polyneuropathy (Biologic) (ORPHAN - U.S.)

Sickle Cell Disease (Biologic) (ORPHAN - U.S.)

Sickle Cell Disease (ORPHAN - U.S.)

Focal Segmental Glomerulosclerosis (FSGS); ROBO2-Fc (Biologic)

Achondroplasia (Biologic) (ORPHAN - U.S., EU)

Dilated Cardiomyopathy due To Lamin A/C Gene Mutation (ORPHAN - U.S.)

Hemophilia (Biologic) (BREAKTHROUGH, ORPHAN - U.S., E.U., PRIME - E.U.)

Hemophilia (Biologic) (RMAT, FAST TRACK, ORPHAN - U.S., E.U.)

Adult Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)

Duchenne Muscular Dystrophy Ambulatory (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

Hemophilia (Biologic) (FAST TRACK - U.S.; ORPHAN - U.S., E.U.)

Pediatric Growth Hormone Deficiency (Biologic) (ORPHAN - U.S., E.U.)

Rare Disease Pipeline & Trials

Our Focus in Rare Disease -