Glycoprotein metabolism disease

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 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 tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

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 an experimental drug, BBP-418, in people with limb girdle muscular dystrophy type 2I (LGMD2I), a rare genetic condition that causes progressive muscle weakness. The drug aims to fix a molecular defect by helping a faulty enzyme work better. The trial includes bot…

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 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 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 pilot study looks at biomarkers in the blood of people with fragile sarcolemmal muscular dystrophy, a condition that makes muscle membranes weak. Researchers will collect blood samples at rest and after exercise during four 5-day hospital stays. The goal is to better underst…

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…