Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

August 24, 2025 updated by: Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

Study Overview

Status

Recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • California
      • San Diego, California, United States, 92123
        • Recruiting
        • Rady Children's Hospital
        • Contact:
        • Contact:
        • Principal Investigator:
          • Jennifer Friedman, MD
    • Colorado
    • Florida
      • Jacksonville, Florida, United States, 32224
        • Recruiting
        • Mayo Clinic Florida
        • Contact:
        • Principal Investigator:
          • Karthik Muthusamy, MD
    • Louisiana
      • New Orleans, Louisiana, United States, 70112
        • Not yet recruiting
        • Tulane University School of Medicine
        • Contact:
        • Principal Investigator:
          • Hans Anderrson, MD
    • Massachusetts
    • Minnesota
      • Minneapolis, Minnesota, United States, 55454
        • Recruiting
        • University of Minnesota
        • Contact:
        • Principal Investigator:
          • Kyriakie Sarfoglou, MD
        • Contact:
      • Rochester, Minnesota, United States, 55905
        • Recruiting
        • Mayo Clinic in Rochester
        • Contact:
        • Principal Investigator:
          • Marc Patterson, MD
    • New York
      • New York, New York, United States, 10029
        • Recruiting
        • Icahn School of Medicine at Mount Sinai
        • Principal Investigator:
          • Jaya Ganesh, MD
        • Contact:
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19146
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
        • Principal Investigator:
          • Andrew Edmondson, MD
        • Principal Investigator:
          • Miao He, PhD
        • Contact:
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • Children's Hospital of Pittsburgh
        • Principal Investigator:
          • Gerard Vockley, MD, PhD
        • Contact:
        • Sub-Investigator:
          • Evgenia Sklirou, MD, FACMG
        • Contact:
    • Texas
      • Houston, Texas, United States, 77030
        • Recruiting
        • Baylor College of Medicine
        • Contact:
          • Fernando Scaglia, MD, FACMG
          • Phone Number: 832-822-4280
          • Email: fscaglia@bcm.edu
        • Contact:
        • Principal Investigator:
          • Fernando Scaglia, MD, FACMG
    • Washington

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of a congenital disorder of glycosylation (CDG) or NGLY1 deficiency, or individuals whose laboratory values are highly suggestive of CDG

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Indicators of Disease Severity and Progression - organ system involvement
Time Frame: 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.
Length of study, up to 5 years
Indicators of Disease Severity and Progression - degree of cognitive disability
Time Frame: 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.
Length of study, up to 5 years
Indicators of Disease Severity and Progression - case-fatality
Time Frame: 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.
Length of study, up to 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Icahn School of Medicine at Mount Sinai

Collaborators

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

Investigators

  • Principal Investigator: Eva Morava-Kozicz, MD, PhD, Icahn School of Medicine at Mount Sinai

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 8, 2019

Primary Completion (Estimated)

July 31, 2030

Study Completion (Estimated)

July 31, 2030

Study Registration Dates

First Submitted

December 8, 2019

First Submitted That Met QC Criteria

December 12, 2019

First Posted (Actual)

December 13, 2019

Study Record Updates

Last Update Posted (Estimated)

August 26, 2025

Last Update Submitted That Met QC Criteria

August 24, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Mayo 19-005187
  • U54NS115198-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

De-identified data and samples may be shared with other investigators at the discretion of the PI. Only participants who have consented to sharing data/samples will be included in this portion.

IPD Sharing Time Frame

Length of study and beyond

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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