Clinical trial NCT04199000: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Official title: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Study type: OBSERVATIONAL
Overall status: RECRUITING
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
PIGG
PIGN
PIGS
PIGT
PMM2
SLC35A2
SLC35C1
SLC39A8
SRD5A3
SSR4
FUT8
GALNT2
MAN2B2
VMA21
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Seattle Children's Hospital
name: Children's Hospital of Philadelphia
name: University of Pittsburgh
name: Boston Children's Hospital
name: Tulane University School of Medicine
name: Baylor College of Medicine
name: University of Minnesota
name: Children's Hospital Colorado
name: Sanford-Burnham Medical Research Institute
name: University of Utah
name: University of Alabama at Birmingham
name: Mayo Clinic
First posted: 2019-12-13
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
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

Brief summary: The purpose of this research is to study the natural history of congenital disorders of glycosylation and its causes and treatments.

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.

Eligibility criteria: Inclusion Criteria:

* Individuals with a genetically, enzymatically, or molecularly confirmed diagnosis of CDG or NGLY1 deficiency

Exclusion Criteria:

* None

Primary outcomes:
measure: Indicators of Disease Severity and Progression - organ system involvement
timeFrame: Length of study, up to 5 years
measure: Indicators of Disease Severity and Progression - degree of cognitive disability
timeFrame: Length of study, up to 5 years
measure: Indicators of Disease Severity and Progression - case-fatality
timeFrame: Length of study, up to 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: San Diego
country: United States
facility: Rady Children's Hospital
state: California
city: Aurora
country: United States
facility: Children's Hospital of Colorado
state: Colorado
city: Jacksonville
country: United States
facility: Mayo Clinic Florida
state: Florida
city: New Orleans
country: United States
facility: Tulane University School of Medicine
state: Louisiana
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Rochester
country: United States
facility: Mayo Clinic in Rochester
state: Minnesota
city: New York
country: United States
facility: Icahn School of Medicine at Mount Sinai
state: New York
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh
state: Pennsylvania
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Eva Morava-Kozicz, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: