Glycoprotein metabolism disease

This study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…

This study tests a one-time gene therapy called GS-100 in 10 children aged 2 to 18 with NGLY1 deficiency, a rare genetic disorder. The therapy is given directly into the brain fluid to deliver a working copy of the missing gene. The goal is to improve motor skills and development…

This study tests the long-term safety and effectiveness of pegcetacoplan in 100 people with two rare kidney diseases, C3 glomerulopathy and IC-MPGN. Participants previously completed a one-year trial and saw benefit from the drug. The goal is to see if pegcetacoplan can keep redu…

This study is for people with PMM2-CDG, a rare genetic disorder, who have already taken the experimental drug GLM101 in a previous trial. The goal is to see if GLM101 is safe and effective over a longer period. Participants will receive weekly infusions of GLM101 at the same dose…

This study tests a drug called GLM101 for people with PMM2-CDG, a rare inherited disease that affects movement and coordination. About 50 children and adults will receive weekly infusions of either GLM101 or a placebo for 24 weeks, followed by an open-label phase where everyone g…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This program provides early access to pegcetacoplan for people aged 12 and older with C3 glomerulopathy or primary IC-MPGN, rare kidney diseases that can lead to kidney failure. Participants must have active disease with significant protein in their urine. The goal is to offer a …

This early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …

This study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

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…