Disorder of protein O-glycosylation
MONDO:0017741A disease that has its basis in the disruption of protein O-linked glycosylation.
Also known as: disorder of protein O-linked glycosylation, protein O-linked glycosylation disease
13 clinical trials for this condition and its sub-types, 0 tagged with Disorder of protein O-glycosylation itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Disorder of protein O-glycosylation
-
Myopathy caused by variation in FKRP 0 trials · 8 incl. sub-types
-
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 0 trials · 8 incl. sub-types
9 sub-types
- Qualitative or quantitative defects of FKRP 0 trials · 8 incl. sub-types Sub-types →
- Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types Sub-types →
- Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types Sub-types →
- Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types Sub-types →
- Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types Sub-types →
- Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types Sub-types →
- Qualitative or quantitative defects of protein O-mannosyltransferase 1 0 trials · 1 incl. sub-types Sub-types →
- Qualitative or quantitative defects of protein O-mannosyltransferase 2 0 trials · 1 incl. sub-types Sub-types →
- Limb-girdle muscular dystrophy due to POMK deficiency 0 trials
-
Disorder of fucoglycosan synthesis 0 trials · 4 incl. sub-types
3 sub-types
- Dowling-Degos disease 0 trials · 4 incl. sub-types Sub-types →
- Peters plus syndrome 0 trials
- Autosomal recessive spondylocostal dysostosis 0 trials Sub-types →
-
Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
-
1 sub-type
Most studied deeper sub-types
-
Hope for rare muscle disease: new drug enters final testing phase
Disease control OngoingThis 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…
Phase 3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Sep 11, 2026 00:00 UTC
-
Gene therapy trial offers hope for rare muscle disease
Disease control OngoingThis 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.
Phase 1/2 • Sponsor: AskBio Inc • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
-
Experimental drug targets root cause of rare muscle-wasting disease
Disease control OngoingThis 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…
Phase 2 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
-
Hope for muscle strength: experimental drug tested for Long-Term use in rare muscular dystrophy
Disease control OngoingThis 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…
Phase 3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
-
New drug shows promise for controlling rare kidney disorders
Disease control OngoingThis 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…
Phase 3 • Sponsor: Apellis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
-
New hope for rare kidney disease patients: early access to pegcetacoplan
Disease control ApprovedThis 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 …
Sponsor: Apellis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
-
Experimental gene therapy targets rare muscle disease
Disease control OngoingThis 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 …
Phase 1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
-
Researchers hunt for muscle clues in rare dystrophy
Knowledge-focused OngoingThis 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…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
-
Paving the way: new study aims to sharpen tools for LGMD R1 trials
Knowledge-focused OngoingThis 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…
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC