Investigating congenital disorders of glycosylation
Official title: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation and Deglycosylation
Run by National Institutes of Health Clinical Center (CC) · NCT02089789 · Data updated 2026-11-12
This study is looking to learn more about congenital disorders of glycosylation by gathering information and samples from people of all ages who have or might have these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Month to 80 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | March 7, 2014 |
| Main results expected | December 1, 2030 |
| Study ends | December 1, 2030 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT02089789 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals aged 1 month to 80 years with known or suspected congenital disorders of glycosylation.
✕Probably not a fit
Patients under 1 month of age or those over 2 years who are not medically stable may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to enhance understanding of congenital disorders of glycosylation (CDGs) by characterizing their etiology and natural history. Participants aged 1 month to 80 years with known or suspected CDGs will be evaluated through medical history, physical exams, and possibly telehealth consultations. The study will involve both inpatient and outpatient assessments, with a focus on gathering biological samples for further research. The goal is to expand knowledge about these complex disorders and improve diagnostic approaches.
Why it matters
Potential benefit: If successful, this study could lead to better diagnosis and management of congenital disorders of glycosylation, improving patient outcomes.
How similar studies have gone: Other studies have explored congenital disorders of glycosylation, but this specific approach to characterizing their etiology and natural history is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Participants 1 month or older will have been or will be referred to this protocol with a known or suspected CDG. Participants over two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. One or more probands may be admitted to the NIH Clinical Center for investigation as well as carrier family members. Some participants will be relatives of patients with known CDG's, and their specimens will be obtained for the purpose of heterozygote testing and to serve as controls to help diagnose the proband. Participants may be seen as inpatients, outpatients or via Telehealth. In some cases, biologic samples may be obtained remotely and sent to the Gahl lab. EXCLUSION CRITERIA: * Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center. * Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis. * Pregnant women and newborns are excluded.
Where it's running
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Lynne A Wolfe, C.R.N.P. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Lynne A Wolfe, C.R.N.P.
- Email: lynne.wolfe@nih.gov
- Phone: (301) 443-8577
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Investigating congenital disorders of glycosylation
This study looks at how congenital disorders of glycosylation affect patients over time by tracking their symptoms, diet, and health to better understand the condition.
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NMN in DHDDS-CDG: is this safe and tolerable for people with DHDDS-CDG?
This study tests whether taking NMN daily is safe and tolerable for people with DHDDS-CDG.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.