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NCT04275479 · ClinicalTrials.gov registry record
Diabetes/ Endocrine Surveillance in SDS
A clinical trial, sponsored by Washington University School of Medicine.
- Terminated
- Registry status
- 11
- Enrollment target
NCT04275479 is a clinical trial that was terminated before completion, run by Washington University School of Medicine. The registered enrollment target is 11 participants.
The verdict
NCT04275479 was terminated before completion, sponsored by Washington University School of Medicine.
- TERMINATED
- Registry status
- 11 participants
- Enrollment target
Study Summary
Shwachman-Diamond syndrome(SDS) is a rare autosomal recessive disorder involving primarily the Shwachman-Bodian-Diamond syndrome gene located on chromosome 7q11. The gene effects function of the 60S ribosome by interfering with the function of the Guanasine triphosphatase elongation factor 1 in the release of eukaryotic initiation factor 6 from the 60 S ribosomal subunit for translation initiation. Seventy five percent of the individual affected by the syndrome have a biallelic mutation (258+2T\>C and 183-184T \> CT). The syndrome results in defects primarily in the pancreas and bone marrow resulting in pancreatic insufficiency, leukopenia with an increased risk of infection and an increased risk for acute myelocytic leukemia. Animal models that have knocked out the function of the SBDS gene in the pancreas reveals at the pancreas at birth as well as the insulin producing cells in the pancreas are normal but subsequently developed fatty infiltration and apoptosis without inflammation resulting in pancreatic exocrine insufficiency with initially normal endocrine pancreatic function. The endocrine pancreatic function declines over time such that by 12 months of age these mice show a phenotype of impaired glucose tolerance. The finding of early onset diabetes is not yet considered a manifestation of this genetic defect but likely is occurring. This study is designed to assist in understanding the prevalence of glucose abnormalities in this syndrome. Exocrine pancreatic insufficiency leading to diabetes is a common hallmark of cystic fibrosis and cystic fibrosis related diabetes. Prevalence of glucose abnormalities in diabetes is a approaching 50% by the 2nd and 3rd decade of life in this disorder. The cystic fibrosis Foundation recommend screening for diabetes utilizing an oral glucose tolerance by the age of 10. Early diagnosis of diabetes in the syndrome as resulted in improved outcomes for patients with cystic fibrosis. It is my expectation that the prevalence of d
Interventions
- DEVICE Continuous Glucose Monitor
- DIAGNOSTIC_TEST Oral Glucose Tolerance Test
- OTHER Modified Oral Glucose Tolerance Test
- OTHER Modified Mixed Meal Tolerance Test
- OTHER Food Diary
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 11 participants |
| Start Date | 2020-01-10 |
| Est. Completion | 2022-12-30 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04275479
The ClinicalTrials.gov registry entry for NCT04275479 describes a study currently listed as terminated, categorized as an unspecified phase. The registered enrollment target is 11 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Washington University School of Medicine, which has 1,502 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 5 interventions - of which Continuous Glucose Monitor is the first listed.
NCT04275479 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT04275479 about?
NCT04275479 is a clinical study titled "Diabetes/ Endocrine Surveillance in SDS". Shwachman-Diamond syndrome(SDS) is a rare autosomal recessive disorder involving primarily the Shwachman-Bodian-Diamond syndrome gene located on chromosome 7q11. The gene effects function of the 60S ribosome by interfering with the function of the Guanasine triphosphatase elongation factor 1 in the ...
What is the current status of trial NCT04275479?
This trial is currently terminated. The enrollment target is 11 participants. The study started on 2020-01-10. Estimated completion is 2022-12-30.
What interventions are being tested in trial NCT04275479?
The interventions under investigation include: Continuous Glucose Monitor (DEVICE), Oral Glucose Tolerance Test (DIAGNOSTIC_TEST), Modified Oral Glucose Tolerance Test (OTHER), Modified Mixed Meal Tolerance Test (OTHER), Food Diary (OTHER).
Who is sponsoring clinical trial NCT04275479?
This trial is sponsored by Washington University School of Medicine, which has 1,502 total clinical trials registered on ClinicalTrials.gov.
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