Congenital Disorders of GlycosylationNCT04199000
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
An observational study of Congenital Disorders of Glycosylation, run by Icahn School of Medicine at Mount Sinai at 12 sites in United States.
Trial summary
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Congenital Disorders of Glycosylation
- How many people
- 500 participants
- Where
- 12 sitesUnited States
- Study dates
- 8 Oct 2019to 31 Jul 2030
- Phase
- Observational
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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
Who may be able to join
- Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency
Who cannot join
- None
Trial locations and contacts
12 sites in 1 country. Contact the study team or a site near you to ask about taking part.
12 sites in 1 country
United States12 sites, 12 recruiting
- Recruiting
Children's Hospital of Colorado
Aurora, Colorado, 80045
Austin Larson, MD, 303-724-3632, Austin.Larson@childrenscolorado.org
Christien Hernandez, 720-777-0440, christien.hernandez@childrenscolorado.org
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Gerard Berry, MD, 617-355-6394, Gerard.Berry@childrens.harvard.edu
Debbie Fu, yu-ting.fu@childrens.harvard.edu
- Recruiting
Baylor College of Medicine
Houston, Texas, 77030
Fernando Scaglia, MD, FACMG, 832-822-4280, fscaglia@bcm.edu
May Ali, 832-822-1630, maali@bcm.edu
- Recruiting
Mayo Clinic Florida
Jacksonville, Florida, 32224
Karthik Muthusamy, MD, Muthusamy.Karthik@mayo.edu
Karthik Muthusamy, MD
- Recruiting
University of Minnesota
Minneapolis, Minnesota, 55454
Kyriakie Sarafoglou, MD, 612-624-5409, saraf010@umn.edu
Natalie Pogorelc, pogor022@umn.edu
- Not yet recruiting
Tulane University School of Medicine
New Orleans, Louisiana, 70112
Hans Anderrson, MD, 504-988-5101, handers@tulane.edu
Hans Anderrson, MD
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Mary Freeman, MS, CGC, 212-659-1434, mary.freeman@mssm.edu
Jaya Ganesh, MD
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19146
Andrew Edmondson, MD, 215-590-3376, EdmondsonA@email.chop.edu
Mehdi Youbi, 267-425-1787, youbim@chop.edu
- Recruiting
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Evgenia Sklirou, MD, FACMG, 412-692-5070, SklirouE@chp.edu
Angela Leshinski, MBA, RD, LDN, 412-692-5232, angela.leshinski@chp.edu
- Recruiting
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
Clinical Genomics Research, 5072669140, RSTCGRESEARCH@mayo.edu
Queenie Tan, MD, PhD
- Recruiting
Rady Children's Hospital
San Diego, California, 92123
Jennifer Friedman, MD, jrfriedman@rchsd.org
Corrine Blucher, cblucher@rchsd.org
- Recruiting
Seattle Children's Hospital
Seattle, Washington, 98105
Christina Lam, MD, 206-987-3012, Christina.Lam@seattlechildrens.org
Hayden Vruegdenhil, 206-884-1264, Hayden.Vruegndenhil@seattlechildrens.org
About this study
The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.
Read the detailed description
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.
- Conditions
- Congenital Disorders of Glycosylation
- Keywords
- CDG, CDDG, Congenital Disorders of Glycosylation, Congenital Disorders of Deglycosylation, ALG1, ALG3, ALG6, ALG12, ALG13, COG6, DPAGT1, DPM1, EDEM3, MAN1B1, MPDU1, MPI, NGLY1, PGAP3, PGM1, PIGA
- Medical subject headings
- Congenital Disorders of Glycosylation
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: Length of study, up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Dec 2019
- Study start8 Oct 2019
- Primary completion31 Jul 2030 (estimated)
- Study completion31 Jul 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.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- 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
- Case only
- Time perspective
- Other
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Seattle Children's Hospital, Children's Hospital of Philadelphia, University of Pittsburgh, Boston Children's Hospital, Tulane University School of Medicine, Baylor College of Medicine, University of Minnesota, Children's Hospital Colorado, Sanford-Burnham Medical Research Institute, University of Utah, University of Alabama at Birmingham, Mayo Clinic
- Responsible party
- Principal investigator, Eva Morava-Kozicz, Icahn School of Medicine at Mount Sinai
- Investigators
- Eva Morava-Kozicz, MD, PhD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04199000
- Sponsor's protocol ID
- Mayo 19-005187
- Other IDs
- U54NS115198-01
- Status last verified
- Jul 2026
- First submitted
- 8 Dec 2019
- Last updated
- 21 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.