Synonyms CDG It, CDG syndrome type It, CDG-It + [20] |
Introduction A rare genetic congenital disorder of glycosylation and glycogen storage disease with characteristics of a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycaemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. Caused by homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. |
Target- |
Mechanism Galactose replacements |
Active Org. |
Originator Org. |
Active Indication |
Inactive Indication- |
Drug Highest PhasePhase 2 |
First Approval Ctry. / Loc.- |
First Approval Date20 Jan 1800 |
Start Date01 Feb 2024 |
Sponsor / Collaborator |
Start Date14 Dec 2022 |
Sponsor / Collaborator BellaSeno GmbHStartup |
Start Date01 Sep 2022 |
Sponsor / Collaborator |