Disease

Congenital disorder of glycosylation

Late-stage therapeutic development

Also known as CDG, carbohydrate deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndromes+1 more

CDG, carbohydrate deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndromes, congenital disorders of glycosylation.

Clinical trials

Associated genes

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial expected to report results, the earliest in Q3 2027.

Upcoming Milestones

Q3 2027Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)

Major developments

Upcoming trial readoutImportant

Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)

Results expected Q3 20272026-06-22

Clinical Milestones1View

Results expected 1

2026-06-22Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)Results expected Q3 2027

Activity timeline1

2026-06-22ClinicalSmall Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)Results expected Q3 2027

Clinical trials

2 sponsors · 1 new · 0 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

A Prospective, Randomized, Double-Blind, Placebo-Controlled, Single-Center Study of Oral Epalrestat Therapy in Pediatric Subjects With Phosphomannomutase 2-congenital Disorder of Glycosylation (PMM2-CDG)

Phase 3 · Terminated · Maggie's Pearl, LLC

Recruiting

Small Cohort, Off Label Treatment Assessing the Safety and Tolerability of NMN in DHDDS-Congenital Disorder of Glycosylation (DHDDS-CDG)

Phase 1 · Recruiting · Eva Morava-Kozicz

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

ALG10.61 DPAGT10.50 SRD5A30.46 CSGALNACT10.46 ALG130.46 PMM20.46 ALG30.44 MAGT10.43 UGGT10.42 EDEM30.40 MPI0.38 RFT10.38

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Polyprenal reductasevia SRD5A30.46

Reference

Authoritative identity, definition & identifiers.

Synonyms

CDG, carbohydrate deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndrome, carbohydrate-deficient glycoprotein syndromes, congenital disorders of glycosylation

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Related entities are derived from literature co-mention (studied together) — associative, not causal.