Not provided
Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| U54NS115198-01 | U.S. NIH Grant/Contract | View source |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
| Seattle Children's Hospital | OTHER |
| Children's Hospital of Philadelphia | OTHER |
Not provided
Not provided
Not provided
Not provided
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Indicators of Disease Severity and Progression - organ system involvement | 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 | 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 | 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 |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
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
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Eva Morava-Kozicz, PhD, MD | Contact | (504) 444-9386 | eva.morava@mssm.edu | |
| Mary Freeman, MS, CGC | Contact | 212-659-1434 | mary.freeman@mssm.edu |
| Name | Affiliation | Role |
|---|---|---|
| Eva Morava-Kozicz, MD, PhD | Icahn School of Medicine at Mount Sinai | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rady Children's Hospital | Recruiting | San Diego | California | 92123 | United States |
Not provided
| Label | URL |
|---|---|
| Frontiers in Congenital Disorders of Glycosylation (FCDGC) | View source |
Not provided
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.
Length of study and beyond
Not provided
Not provided
Not provided
| University of Pittsburgh |
| OTHER |
| Boston Children's Hospital | OTHER |
| Tulane University School of Medicine | OTHER |
| Baylor College of Medicine | OTHER |
| University of Minnesota | OTHER |
| Children's Hospital Colorado | OTHER |
| Sanford-Burnham Medical Research Institute | OTHER |
| University of Utah | OTHER |
| University of Alabama at Birmingham | OTHER |
| Mayo Clinic | OTHER |
Not provided
Not provided
Not provided
Stool, urine, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.
| Children's Hospital of Colorado | Recruiting | Aurora | Colorado | 80045 | United States |
|
| Mayo Clinic Florida | Recruiting | Jacksonville | Florida | 32224 | United States |
|
| Tulane University School of Medicine | Not yet recruiting | New Orleans | Louisiana | 70112 | United States |
|
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
|
| University of Minnesota | Recruiting | Minneapolis | Minnesota | 55454 | United States |
|
| Mayo Clinic in Rochester | Recruiting | Rochester | Minnesota | 55905 | United States |
|
| Icahn School of Medicine at Mount Sinai | Recruiting | New York | New York | 10029 | United States |
|
| Children's Hospital of Philadelphia | Recruiting | Philadelphia | Pennsylvania | 19146 | United States |
|
| Children's Hospital of Pittsburgh | Recruiting | Pittsburgh | Pennsylvania | 15224 | United States |
|
| Baylor College of Medicine | Recruiting | Houston | Texas | 77030 | United States |
|
| Seattle Children's Hospital | Recruiting | Seattle | Washington | 98105 | United States |
|
| ID | Term |
|---|---|
| D018981 | Congenital Disorders of Glycosylation |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
Not provided
Not provided