Disorder of protein N-glycosylation

MONDO:0017740

A disease that has its basis in the disruption of protein N-linked glycosylation.

Also known as: disorder of protein N-linked glycosylation, protein N-linked glycosylation disease

7 clinical trials for this condition and its sub-types, 0 tagged with Disorder of protein N-glycosylation itself.

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Where it sits in the disease tree

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Part of

↑ Congenital disorder of glycosylation (36) ↑ Glycoprotein metabolism disease (23)

Sub-types of Disorder of protein N-glycosylation

PMM2-congenital disorder of glycosylation 5 trials
MPI-congenital disorder of glycosylation 1 trial
PGM1-congenital disorder of glycosylation 1 trial
ALG1-congenital disorder of glycosylation 0 trials
ALG11-congenital disorder of glycosylation 0 trials
ALG12-congenital disorder of glycosylation 0 trials
ALG2-congenital disorder of glycosylation 0 trials
1 sub-type
- Congenital myasthenic syndrome 14 0 trials
ALG3-congenital disorder of glycosylation 0 trials
ALG6-congenital disorder of glycosylation 1C 0 trials
ALG8-congenital disorder of glycosylation 0 trials
ALG9-congenital disorder of glycosylation 0 trials
1 sub-type
- Gillessen-Kaesbach-Nishimura syndrome 0 trials
DDOST-congenital disorder of glycosylation 0 trials
DPAGT1-congenital disorder of glycosylation 0 trials
MAN1B1-congenital disorder of glycosylation 0 trials
MGAT2-congenital disorder of glycosylation 0 trials
MOGS-congenital disorder of glycosylation 0 trials
RFT1-congenital disorder of glycosylation 0 trials
SLC39A8-CDG 0 trials
SSR4-congenital disorder of glycosylation 0 trials
ST3GAL3-congenital disorder of glycosylation 0 trials
2 sub-types
- Developmental and epileptic encephalopathy, 15 0 trials
- Intellectual disability, autosomal recessive 12 0 trials
STT3A-congenital disorder of glycosylation 0 trials
STT3B-congenital disorder of glycosylation 0 trials
TMEM165-congenital disorder of glycosylation 0 trials
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 trials
Congenital disorder of glycosylation type 1EE with or without immunodeficiency 0 trials
Developmental and epileptic encephalopathy, 36 0 trials

Including sub-types (7) Tagged with Disorder of protein N-glycosylation (0)

Not yet recruiting 1 Not yet finished but already full! 3 Completed 2 Terminated 1

Sugar supplement shows promise for rare disease in new trial

Disease control Not yet recruiting

This phase 2b trial tests AVTX-801, a D-galactose supplement, in 8 adults with PGM1-CDG, a rare genetic disorder affecting sugar metabolism. Participants currently on D-galactose will receive either the study drug or a placebo to see if it reduces disease-related events like low …

Phase 2 • Sponsor: Eva Morava-Kozicz • Aim: Disease control

Last updated Jun 27, 2026 11:01 UTC

Disorder of protein N-glycosylation

Where it sits in the disease tree

Sugar supplement shows promise for rare disease in new trial