Clinical and Basic Investigations Into… | Clinical Trial

Key information

Conditions

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Rady Children's Hospital, San Diego, California, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

None

Treatment and study plan

Primary outcomes

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.
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.
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.

Study contacts

Contact information is provided by the study sponsor or research team.

Eva Morava-Kozicz, PhD, MD

CONTACT

[email protected]

(504) 444-9386

Mary Freeman, MS, CGC

CONTACT

[email protected]

212-659-1434

Sponsors and collaborators

Lead sponsor

Icahn School of Medicine at Mount Sinai

Other

Collaborators

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

Registry information

Important dates

Study start: 2019
Primary completion: 2030
Study completion: 2030
First posted: Dec 13, 2019
Registry last updated: Jul 21, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Recruiting