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.
Homozygous Familial Hypercholesterolemia (HoFH)HoFH iis an ultra-rare inherited condition that causes high cholesterol. Untreated, patients with HoFH are at risk for premature atherosclerotic disease and cardiac events such as myocardial infarction that can occur in children below 10 years of age.
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) DeficiencyOTC 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.
Wilson Disease (WD)
WD is a rare genetic disorder caused by changes in the ATP7B gene.