Congenital Disorders of GlycosylationNCT02089789
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
An observational study of Congenital Disorders of Glycosylation, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Background: Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. Read more about this study
- Who is it for?
- Ages 1 month to 80 years
- Conditions the study is for
- Congenital Disorders of Glycosylation
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Mar 2014to 1 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Anyone with a congenital disorder of glycosylation
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Lynne Wolfe, M.S., 301-443-8577, lynne.wolfe@nih.gov
About this study
Official title: Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation and Deglycosylation
Background:
- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems.
Read more
Objective:
- To learn more about CDGs.
Eligibility:
- People 1 month to 2 years old may be seen as outpatients or by telehealth. Patients 2-80 years with CDG or suspected to have a CDG may be seen under this protocol as inpatients, outpatients or by teleheath.
Design:
- CDG participants may be seen as inpatients, outpatients or by teleheath. Inpatient stays may last 2-5 days.
- They will have:-Medical history and physical exam. They will answer questions about their CDG.
- Blood taken several times. Their skin will be numbed, then a needle will take blood from an arm vein.
- Samples taken of their skin, urine, and maybe stool and spinal fluid.
- Photos taken of their whole body. They can wear underwear and cover their eyes.
- Brain MRI. They will lie on a table that slides in and out of a metal cylinder. The scanner makes loud knocking noises so they can wear earplugs.
- Abdomen ultrasound. Sound waves take images of the body from the outside.
- Hand/wrist X-rays for young patients. They may have a full-body X-ray.
- DEXA bone density scan. Participants will lie on a table under a scanner.
- Echocardiogram and electrocardiogram for heart activity. Pads are stuck on the skin and the electrical activity of the heart is recorded.
- Tests of hearing, thinking, motor skills, and speech.
- Children participants may have tests done under sedation if it will benefit them directly.
- CDG participants may have other procedures during their visit. They may have follow-up visits every year.
Read the detailed description
Study Description:
In this protocol, we propose to characterize the etiology and natural history of known, suspected or secondary CDGs to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of primary, new, and secondary congenital disorders of glycosylation.
- Conditions
- Congenital Disorders of Glycosylation
- Keywords
- Thrombosis, Intellectual Disability, Hypotonia, Hypoglycemia, Hypothyroidism, Natural History
- Medical subject headings
- Congenital Disorders of Glycosylation, Thrombosis, Intellectual Disability, Muscle Hypotonia, Hypoglycemia, Hypothyroidism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CDG | Patients with a suspected CDG based on biochemical tests or a confirmed CDG based on enzymatic or molecular tests will be eligible to enroll in this protocol |
What is being measured
The primary outcome is the main question the study is designed to answer.
Expertise Establishment
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.
Measured: Ongoing
Secondary outcomes (1)
Secondary
To use this protocol to recruit patients for potential future therapeutic studies.-To inspire the initiation of new, treatment-specific protocols.-To allow for collection of data on carrier family members enrolled in this protocol.-To perform standard genetic and non-genetic testing as indicated to identify new CDG s that may yield information about new variant(s) or cell biology.-To provide teaching and research cases for the NHGRI intramural community.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2014 (estimated)
- Study start7 Mar 2014
- Primary completion1 Dec 2030 (estimated)
- Study completion1 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Disorders of GlycosylationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Lynne A Wolfe, C.R.N.P., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02089789
- Sponsor's protocol ID
- 140071
- Other IDs
- 14-HG-0071
- Status last verified
- 3 Nov 2026
- First submitted
- 14 Mar 2014
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: pending
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation and Deglycosylation
- ClinicalTrials.gov ID
- NCT02089789
- Acronym / sponsor ID
- 140071
- Conditions
- Congenital Disorders of Glycosylation
- Keywords
- Thrombosis, Intellectual Disability, Hypotonia, Hypoglycemia, Hypothyroidism, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 7 Mar 2014 (actual)
- Primary completion
- 1 Dec 2030 (estimated)
- Study completion
- 1 Dec 2030 (estimated)
- First posted
- 18 Mar 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
- Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly. People with congenital disorders of glycosylation (CDGs) cannot attach these sugars or sugar chains properly. A child or adult with a CDG can have symptoms in different parts of the body, including brain, nerves, muscles, liver, and immune system. Researchers want to learn more about these diseases to understand better what is causing the problems.
Objective:
- To learn more about CDGs.
Eligibility:
- People 1 month to 2 years old may be seen as outpatients or by telehealth. Patients 2-80 years with CDG or suspected to have a CDG may be seen under this protocol as inpatients, outpatients or by teleheath.
Design:
- CDG participants may be seen as inpatients, outpatients or by teleheath. Inpatient stays may last 2-5 days.
- They will have:-Medical history and physical exam. They will answer questions about their CDG.
- Blood taken several times. Their skin will be numbed, then a needle will take blood from an arm vein.
- Samples taken of their skin, urine, and maybe stool and spinal fluid.
- Photos taken of their whole body. They can wear underwear and cover their eyes.
- Brain MRI. They will lie on a table that slides in and out of a metal cylinder. The scanner makes loud knocking noises so they can wear earplugs.
- Abdomen ultrasound. Sound waves take images of the body from the outside.
- Hand/wrist X-rays for young patients. They may have a full-body X-ray.
- DEXA bone density scan. Participants will lie on a table under a scanner.
- Echocardiogram and electrocardiogram for heart activity. Pads are stuck on the skin and the electrical activity of the heart is recorded.
- Tests of hearing, thinking, motor skills, and speech.
- Children participants may have tests done under sedation if it will benefit them directly.
- CDG participants may have other procedures during their visit. They may have follow-up visits every year.
Detailed description
Study Description:
In this protocol, we propose to characterize the etiology and natural history of known, suspected or secondary CDGs to expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of primary, new, and secondary congenital disorders of glycosylation.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CDG | – | –Patients with a suspected CDG based on biochemical tests or a confirmed CDG based on enzymatic or molecular tests will be eligible to enroll in this protocol |
Who may qualify
- Ages
- 1 month to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Anyone with a congenital disorder of glycosylation
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Expertise Establishment
Time frame: Ongoing
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.
1 secondary outcome
Secondary
Time frame: Ongoing
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. pending
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Lynne A Wolfe, C.R.N.P. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Disorders of Glycosylation, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lynne A Wolfe, C.R.N.P. ((301) 443-8577, lynne.wolfe@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Expertise Establishment (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.