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Clinical and Basic Investigations Into Congenital Disorders of Glycosylation

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04199000
Recruitment Status : Recruiting
First Posted : December 13, 2019
Last Update Posted : May 9, 2023
Sponsor:
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
Seattle Children's Hospital
Children's Hospital of Philadelphia
University of Pittsburgh
Boston Children's Hospital
Tulane University School of Medicine
Baylor College of Medicine
University of Minnesota
Children's Hospital Colorado
Sanford-Burnham Medical Research Institute
University of Utah
University of Alabama at Birmingham
Information provided by (Responsible Party):
Eva Morava-Kozicz, Mayo Clinic

Study Description
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

Condition or disease
Congenital Disorders of Glycosylation

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 Design
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Study Type : Observational
Estimated Enrollment : 150 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Actual Study Start Date : October 8, 2019
Estimated Primary Completion Date : October 2024
Estimated Study Completion Date : October 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.


Biospecimen Retention:   Samples With DNA
Stool, urine, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
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
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Patients without congenital disorders of glycosylation
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04199000


Contacts
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Contact: Eva Morava-Kozicz, PhD, MD 507-266-2967 morava-kozicz.eva@mayo.edu
Contact: Alexandra Miller 507-284-5467 miller.alexandra@mayo.edu

Locations
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United States, Colorado
Children's Hospital of Colorado Not yet recruiting
Aurora, Colorado, United States, 80045
Contact: Austin Larson, MD    303-724-3632    Austin.Larson@childrenscolorado.org   
Contact: Bridget Flanders, BA    720-777-4309    Bridget.Flanders@childrenscolorado.org   
Principal Investigator: Austin Larson, MD         
United States, Louisiana
Tulane University Medical School Recruiting
New Orleans, Louisiana, United States, 70112
Contact: Hans Anderrson, MD    504-988-5101    handers@tulane.edu   
Principal Investigator: Hans Anderrson, MD         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Gerard Berry, MD    617-355-6394    Gerard.Berry@childrens.harvard.edu   
Contact: Danielle Terek    617-355-7346    Danielle.Terek@childrens.harvard.edu   
Principal Investigator: Gerard Berry, MD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55454
Contact: Kyriakie Sarafoglou, MD    612-624-5409    saraf010@umn.edu   
Contact: Paige Hill    612-624-8672    hillx615@umn.edu   
Principal Investigator: Kyriakie Sarfoglou, MD         
Mayo Clinic in Rochester Recruiting
Rochester, Minnesota, United States, 55905
Contact: Eva Morava-Kozicz, MD, PhD    507-266-2967    Morava-Kozicz.Eva@mayo.edu   
Contact: Alexandra Miller, B.S.    507-293-1139    miller.alexandra@mayo.edu   
Principal Investigator: Eva Morava-Kozicz, MD, PhD         
United States, Pennsylvania
Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19146
Contact: Andrew Edmondson, MD    215-590-3376    EdmondsonA@email.chop.edu   
Contact: Elizabeth McCormick, MS, LCGC    267-426-4961    McCormickE@email.chop.edu   
Principal Investigator: Andrew Edmondson, MD         
Principal Investigator: Miao He, PhD         
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Evgenia Sklirou, MD, FACMG    412-692-5070    SklirouE@chp.edu   
Contact: Angela Leshinski, MBA, RD, LDN    412-692-5232    angela.leshinski@chp.edu   
Principal Investigator: Gerard Vockley, MD, PhD         
Sub-Investigator: Evgenia Sklirou, MD, FACMG         
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Fernando Scaglia, MD, FACMG    832-822-4280    fscaglia@bcm.edu   
Contact: May Ali    832-822-1630    maali@bcm.edu   
Principal Investigator: Fernando Scaglia, MD, FACMG         
United States, Washington
Seattle Children's Hospital Recruiting
Seattle, Washington, United States, 98105
Contact: Christina Lam, MD    206-987-3012    Christina.Lam@seattlechildrens.org   
Contact: Hayden Vruegdenhil    206-884-1264    Hayden.Vruegndenhil@seattlechildrens.org   
Principal Investigator: Christina Lam, MD         
Sponsors and Collaborators
Mayo Clinic
National Institute of Neurological Disorders and Stroke (NINDS)
Seattle Children's Hospital
Children's Hospital of Philadelphia
University of Pittsburgh
Boston Children's Hospital
Tulane University School of Medicine
Baylor College of Medicine
University of Minnesota
Children's Hospital Colorado
Sanford-Burnham Medical Research Institute
University of Utah
University of Alabama at Birmingham
Investigators
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Principal Investigator: Eva Morava-Kozicz, MD, PhD Mayo Clinic
  Study Documents (Full-Text)

Documents provided by Eva Morava-Kozicz, Mayo Clinic:
Study Protocol and Statistical Analysis Plan  [PDF] October 20, 2020
Informed Consent Form  [PDF] October 20, 2020

More Information
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Additional Information:

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Responsible Party: Eva Morava-Kozicz, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT04199000    
Other Study ID Numbers: 19-005187
U54NS115198-01 ( U.S. NIH Grant/Contract )
First Posted: December 13, 2019    Key Record Dates
Last Update Posted: May 9, 2023
Last Verified: May 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
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.
Supporting Materials: Study Protocol
Informed Consent Form (ICF)
Time Frame: Length of study and beyond

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Eva Morava-Kozicz, Mayo Clinic:
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
Additional relevant MeSH terms:
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Congenital Disorders of Glycosylation
Disease
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
 Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases