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Learn more about results from our clinical trials
AS
Angelman Syndrome (AS)
Angelman syndrome is a rare genetic disorder caused by changes in the UBE3A gene.
CDD
CDKL5 Deficiency Disorder (CDD)
CDKL5 deficiency disorder is a rare developmental condition caused by changes in the CDKL5 gene.
CTD
Creatine Transporter Deficiency (CTD)
Creatine transporter deficiency is a rare genetic disorder caused by changes in the SLC6A8 gene.
DMD
Duchenne Muscular Dystrophy (DMD)
Duchenne is an X-linked genetic disorder that affects the muscles, leading to muscle wasting that progresses over time.
GSDIa
Glycogen Storage Disease Type Ia (GSDIa)
GSDIa is a rare genetic disorder caused by changes in the G6PC gene.
GSDIII
Glycogen Storage Disease Type III (GSDIII)
GSDIII is a rare genetic disorder caused by changes in the AGL gene.
HoFH
Homozygous Familial Hypercholesterolemia (HoFH)
HoFH is 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.
LC-FAOD
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.
MPS IIIA
Mucopolysaccharidosis type IIIA (MPS IIIA)
Mucopolysaccharidosis type IIIA (MPS IIIA), also called Sanfilippo Syndrome type A, is a severe, progressive disorder that primarily affects the brain and spinal cord (central nervous system).
MPS VII
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.
OTC
Ornithine Transcarbamylase (OTC) Deficiency
OTC deficiency is a genetic disorder caused by changes in the OTC gene.
OI
Osteogenesis Imperfecta (OI)
Osteogenesis Imperfecta is a group of genetic disorders that affect the bones.
WD
Wilson Disease (WD)
WD is a rare genetic disorder caused by changes in the ATP7B gene.
