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Observational Study of Congenital Disorders of Glycosylation (CDGs)

This study is looking to learn more about Congenital Disorders of Glycosylation (CDGs), which are conditions where the body can't properly attach sugars to important building blocks like proteins and fats. This can cause problems in many parts of the body, including the brain, nerves, muscles, and liver. Researchers want to understand what causes these problems and how these disorders progress over time. You may be able to join if you are between 1 month and 80 years old and have a known or suspected CDG. The main goal is to build expertise and knowledge about these conditions.

Study design
This is an observational study, meaning researchers will study people with CDGs without giving them any specific interventions. It aims to include up to 200 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study aims for ongoing expertise establishment, suggesting long-term observation.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02089789

Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation

Recruiting
Not specifiedAges 1–80Observational
National Human Genome Research Institute (NHGRI)
~200 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Expertise Establishment
Measured over Ongoing

Conditions

Congenital Disorders of Glycosylation

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Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Lynne A Wolfe, C.R.N.P. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

Who to contact

Lynne A Wolfe, C.R.N.P.
[email protected]
(301) 443-8577
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Exclusion

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.

What this trial measures

  • Expertise EstablishmentOngoing

    DescriptionTo employ consultations, physical examinations, and medical and genetic histories to establish expertise in these disorders appropriate to advise patients and physicians concerning diagnosis, prognosis, and therapy of CDGs.