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
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Myopathy caused by variation in FKRP 0 trials · 8 incl. sub-types
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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
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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 →
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Myopathy caused by variation in POMGNT1 0 trials · 1 incl. sub-types
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1 sub-type
Most studied deeper sub-types
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Hope for rare kidney patients: new drug shows promise in phase 3 trial
Disease control CompletedThis 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…
Phase 3 • Sponsor: Apellis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New study tracks muscle decline in rare disease to guide future treatments
Knowledge-focused CompletedThis 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 …
Sponsor: Genethon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC