Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

May 8, 2023 updated by: Eva Morava-Kozicz, Mayo Clinic
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

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 (Anticipated)

150

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

    • Colorado
    • Louisiana
      • New Orleans, Louisiana, United States, 70112
        • Recruiting
        • Tulane University Medical School
        • Contact:
        • Principal Investigator:
          • Hans Anderrson, MD
    • Massachusetts
    • Minnesota
      • Minneapolis, Minnesota, United States, 55454
        • Recruiting
        • University of Minnesota
        • Contact:
        • Contact:
        • Principal Investigator:
          • Kyriakie Sarfoglou, MD
      • Rochester, Minnesota, United States, 55905
        • Recruiting
        • Mayo Clinic in Rochester
        • Principal Investigator:
          • Eva Morava-Kozicz, MD, PhD
        • Contact:
        • Contact:
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19146
        • Recruiting
        • Children's Hospital of Philadelphia
        • Contact:
        • Contact:
        • Principal Investigator:
          • Andrew Edmondson, MD
        • Principal Investigator:
          • Miao He, PhD
      • Pittsburgh, Pennsylvania, United States, 15224
        • Recruiting
        • University 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

All patients included in the study must have genetic confirmation of a primary congenital disorder of glycosylation

Description

Inclusion Criteria:

  • Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing

Exclusion Criteria:

  • Patients without congenital disorders of glycosylation

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.

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.

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 (Anticipated)

October 1, 2024

Study Completion (Anticipated)

October 1, 2024

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 (Actual)

May 9, 2023

Last Update Submitted That Met QC Criteria

May 8, 2023

Last Verified

May 1, 2023

More Information

Terms related to this study

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

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.

Clinical Trials on Congenital Disorders of Glycosylation

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