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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 : December 17, 2019
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Eva Morava-Kozicz, Mayo Clinic

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.

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Study Type : Observational
Estimated Enrollment : 100 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 1, 2024
Estimated Study Completion Date : December 31, 2024





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.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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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

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: Kaitlin Schwartz, B.S. 507-293-9114 schwartz.kaitlin@mayo.edu

Locations
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United States, Minnesota
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: Kailtin Schwartz, B.S.    507-293-9114    Schwartz.kaitlin@mayo.edu   
Sponsors and Collaborators
Mayo Clinic
National Institute of Neurological Disorders and Stroke (NINDS)
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:
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: December 17, 2019
Last Verified: December 2019
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
Additional relevant MeSH terms:
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Congenital Disorders of Glycosylation
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases