Congenital disorder of glycosylation

This study tested a drug called pegcetacoplan in 124 adults and teens with two rare kidney diseases (C3G and IC-MPGN). The goal was to see if the drug could reduce protein in the urine, a sign of kidney damage. Participants received either the drug or a placebo twice a week for 2…

This study tested an experimental drug called GLM101 in 27 people with PMM2-CDG, a rare genetic condition that causes problems with balance and movement. Participants received different doses of the drug intravenously over 24 weeks. The main goal was to see if the drug improves c…

This study looked at whether taking simple sugars as a daily supplement can improve health in children with congenital disorders of glycosylation (CDG), a rare genetic condition. Twenty participants took the supplement while researchers tracked growth, blood sugar, liver function…

This study tested a new method called global metabolomic profiling to diagnose inborn errors of metabolism, a group of rare genetic disorders. Researchers compared this approach to traditional testing in 240 participants. The goal was to see if the new method could more accuratel…

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…

This completed study followed 945 people, mostly children and young adults with severe eczema or related allergic conditions, along with their relatives. Researchers observed how these diseases progress over up to a year, using tests like allergy skin pricks, blood draws, and lun…

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …

This study is gathering medical information from 120 people with PMM2-CDG, a rare genetic disorder. Researchers will track growth, organ function, and development over time. The goal is to better understand the disease and help design future treatments. No new drugs are being tes…

This study looked at how the cells lining blood vessels (endothelial cells) might be involved in stroke-like episodes in people with Congenital Disorders of Glycosylation (CDG). Researchers took blood samples from 6 CDG patients and grew their endothelial cells in the lab to test…

This study examined blood clotting in 57 people with Congenital Disorder of Glycosylation (CDG), a rare genetic condition. Researchers used a special test called the thrombin generation assay to see if the body's clotting system stays balanced despite having low levels of both cl…

This study followed 52 people with limb-girdle muscular dystrophy 2I (LGMD2I) for up to two years to learn more about how the disease changes over time. Researchers measured walking ability, muscle strength, heart function, and daily activities. The goal was to better understand …