Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Congenital Disorders of Glycosylation Clinical Trial

Official title:

Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04199000
• Other study ID #: 19-005187
• Secondary ID: U54NS115198-01
• Status: Recruiting
• Start date: October 8, 2019
• Est. completion date: October 2024

Study information

• Verified date: April 2024
• Source: Icahn School of Medicine at Mount Sinai
• Contact: Eva Morava-Kozicz, PhD, MD
• Phone: (504) 444-9386
• Email: eva.morava[@]mssm.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 350
• Est. completion date: October 2024
• Est. primary completion date: October 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• None

Related Conditions & MeSH terms

• Congenital Disorders of Glycosylation

Locations

Country	Name	City	State
United States	Children's Hospital of Colorado	Aurora	Colorado
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Baylor College of Medicine	Houston	Texas
United States	Mayo Clinic Florida	Jacksonville	Florida
United States	University of Minnesota	Minneapolis	Minnesota
United States	Tulane University School of Medicine	New Orleans	Louisiana
United States	Icahn School of Medicine at Mount Sinai	New York	New York
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania
United States	Mayo Clinic in Rochester	Rochester	Minnesota
United States	Rady Children's Hospital	San Diego	California
United States	Seattle Children's Hospital	Seattle	Washington

Sponsors (14)

Lead Sponsor

Collaborator

Icahn School of Medicine at Mount Sinai

Baylor College of Medicine, Boston Children's Hospital, Children's Hospital Colorado, Children's Hospital of Philadelphia, Mayo Clinic, National Institute of Neurological Disorders and Stroke (NINDS), Sanford-Burnham Medical Research Institute, Seattle Children's Hospital, Tulane University School of Medicine, University of Alabama at Birmingham, University of Minnesota, University of Pittsburgh, University of Utah

Country where clinical trial is conducted

United States, 

Outcome

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

External Links

•   Frontiers in Congenital Disorders of Glycosylation (FCDGC)