Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04199000

Enrollment

500

Registered

2019-12-13

Start date

2019-10-08

Completion date

2030-07-31

Last updated

2026-07-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Disorders of Glycosylation

Keywords

CDG, CDDG, Congenital Disorders of Glycosylation, Congenital Disorders of Deglycosylation, ALG1, ALG3, ALG6, ALG12, ALG13, COG6, DPAGT1, DPM1, EDEM3, MAN1B1, MPDU1, MPI, NGLY1, PGAP3, PGM1, PIGA, PIGG, PIGN, PIGS, PIGT, PMM2, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, FUT8, GALNT2, MAN2B2, VMA21

Brief summary

The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

Detailed description

The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG. Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency

Exclusion criteria

* None

Design outcomes

Primary

Measure	Time frame	Description
Indicators of Disease Severity and Progression - organ system involvement	Length of study, up to 5 years	Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
Indicators of Disease Severity and Progression - degree of cognitive disability	Length of study, up to 5 years	Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.
Indicators of Disease Severity and Progression - case-fatality	Length of study, up to 5 years	Establish the prevalence and severity of specific morbid indicators of disease severity through use of the Nijmegen Progression CDG rating scale.

Countries

United States

Contacts

CONTACTEva Morava-Kozicz, PhD, MD

eva.morava@mssm.edu(504) 444-9386

CONTACTMary Freeman, MS, CGC

mary.freeman@mssm.edu212-659-1434

PRINCIPAL_INVESTIGATOREva Morava-Kozicz, MD, PhD

Icahn School of Medicine at Mount Sinai

Outcome results