RecruitingNCT02089789
Metabolic
Congenital Disorder of Glycosylation
Also known as CDG syndrome, PMM2-CDG (CDG-Ia), phosphomannomutase 2 deficiency, CDG-I and CDG-II
Congenital disorders of glycosylation (CDG) are a large group of inherited metabolic disorders affecting the addition of sugar chains (glycans) to proteins and lipids. PMM2-CDG is the most common type, caused by mutations in PMM2 encoding p
ORPHA:137 ↗Gene PMM2Gene MPIGene ALG6Gene ATP6AP1Prevalence 1-9 per 100,000 (Orphanet, combined CDG)Onset Neonatal, InfantileAutosomal recessive genetic (most types)
4
studies recruiting now
as of 7 Sept 2026
23
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
7 May 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT04199000
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
RecruitingPhase 1NCT07572825
Assessing the Safety and Tolerability of NMN in DHDDS-CDG
RecruitingNCT01403402
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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About Congenital Disorder of Glycosylation
Congenital disorders of glycosylation (CDG) are a large group of inherited metabolic disorders affecting the addition of sugar chains (glycans) to proteins and lipids. PMM2-CDG is the most common type, caused by mutations in PMM2 encoding phosphomannomutase 2, and presents with cerebellar hypoplasia, intellectual disability, and coagulopathy. Over 150 CDG subtypes exist, each caused by mutations in different glycosylation pathway genes, with widely varying severity.
Common clinical features
Cerebellar hypoplasia and ataxiaIntellectual disabilityFailure to thriveCoagulopathyPericardial effusionRetinitis pigmentosaLiver dysfunction
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 1/2D-Mannose
Before you apply
Things trial teams commonly ask about for Congenital Disorder of Glycosylation. Not eligibility rules; those are set by each study.
- Specify the CDG subtype by gene — PMM2-CDG trials differ from SLC35C1-CDG or ATP6AP1-CDG trials
- Transferrin isoelectric focusing (TIEF) or transferrin glycoform mass spectrometry is required for diagnostic confirmation and monitoring
- Mannose supplementation trials are specific to MPI-CDG (CDG-Ib) — this form is treatable and molecularly distinct
- CDG Consortium (NCATS) registries are actively enrolling all subtypes — registration provides access to trial matching
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).