Ultragenyx is researching potential treatments for several rare and ultra-rare diseases in three therapeutic areas: metabolic (energy production from food), neurologic (nerves and nervous system), and orthopedic (bones and muscles). On each page, you will find more information about the condition, gain access to related resources, and find potential opportunities to participate in current Ultragenyx research.
Angelman Syndrome (AS)
Angelman syndrome is a rare genetic disorder caused by changes in the UBE3A gene.
CDKL5 Deficiency Disorder (CDD)
CDKL5 deficiency disorder is a rare developmental condition caused by changes in the CDKL5 gene.
Creatine Transporter Deficiency (CTD)
Creatine transporter deficiency is a rare genetic disorder caused by changes in the SLC6A8 gene.
Duchenne Muscular Dystrophy (DMD)
Duchenne is an X-linked genetic disorder that affects the muscles, leading to muscle wasting that progresses over time.
Glycogen Storage Disease Type Ia (GSDIa)
GSDIa is a rare genetic disorder caused by changes in the G6PC gene.
Glycogen Storage Disease Type III (GSDIII)
GSDIII is a rare genetic disorder caused by changes in the AGL gene.
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
LC-FAOD are a group of rare conditions impair the body’s metabolism from breaking down certain fats from food into energy.
Mucopolysaccharidosis Type VII (MPS VII)
MPS VII is a rare genetic metabolic disorder where the body does not produce enough of the beta-glucuronidase enzyme.
Ornithine Transcarbamylase (OTC) Deficiency
OTC deficiency is a genetic disorder caused by changes in the OTC gene.
Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta is a group of genetic disorders that affect the bones.
Tumor-Induced Osteomalacia (TIO)
TIO is a rare disease caused by slow-growing tumors, which produce excess amounts of the FGF23 protein.
Wilson Disease (WD)
WD is a rare genetic disorder caused by changes in the ATP7B gene.
X-linked Hypophosphatemia (XLH)
XLH is a rare, progressive, lifelong disorder caused by low levels of phosphate in the bloodstream.