Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
NCT03093493 · ClinicalTrials.gov registry record
Genetics of Ehlers-Danlos Syndrome
A clinical trial, sponsored by Boston University.
- Completed
- Registry status
- 334
- Enrollment target
NCT03093493 is a clinical trial that has completed, run by Boston University. The registered enrollment target is 334 participants.
The verdict
NCT03093493 has completed, sponsored by Boston University.
- COMPLETED
- Registry status
- 334 participants
- Enrollment target
Study Summary
We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous diagnosis at other institutions, age, clinical signs and symptoms of EDS, Joints Hypermobility Syndrome (JHS), , and other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that supports these diagnoses. Subjects' peripheral vein blood and saliva will be taken. No clinical intervention/randomizations will be performed. No patients' identifiers will be reported. In this pilot study genomic DNA will be extracted and will be used for genotyping as sequencing in 30 EDS patients and their 30 relatives with or without EDS to compare genetic variations between them. After validation by Sanger sequencing for these variations, we plan to prepare a genetic panel for EDS. After all validation testing, we plan to evaluate the saliva DNA in a similar manner and compare the results with those obtained from the DNA from the blood sample. The purpose is that if they are comparable, we will be able to use saliva in place of blood as it easier method for accessing a person's DNA. This will be especially helpful for evaluating infants or those patients who prefer not to have a blood sample drawn. NOTE: Results of this study will not be disclosed to subjects.
Interventions
- DIAGNOSTIC_TEST Genotyping
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 334 participants |
| Start Date | 2017-08-25 |
| Est. Completion | 2025-04-03 |
Interested in This Trial?
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT03093493
The ClinicalTrials.gov registry entry for NCT03093493 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 334 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Boston University, which has 185 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 1 intervention - of which Genotyping is the first listed.
NCT03093493 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT03093493 about?
NCT03093493 is a clinical study titled "Genetics of Ehlers-Danlos Syndrome". We are planning to collected blood and saliva for DNA extraction to use for genetic testing of children and adults with EDS and their relatives. Medical records from other institutions and clinical notes for visits in Dr. Holick's clinic will be reviewed to obtain the following information: previous...
What is the current status of trial NCT03093493?
This trial is currently completed. The enrollment target is 334 participants. The study started on 2017-08-25. Estimated completion is 2025-04-03.
What interventions are being tested in trial NCT03093493?
The interventions under investigation include: Genotyping (DIAGNOSTIC_TEST).
Who is sponsoring clinical trial NCT03093493?
This trial is sponsored by Boston University, which has 185 total clinical trials registered on ClinicalTrials.gov.
Learn More About Clinical Trials
Explore more on PlainTrial
Read our methodology - how this data is sourced, computed, and verified.
Related
Every figure on PlainTrial is rendered directly from the ClinicalTrials.gov registry, no number is typed in by an editor. This page mirrors this trial's own ClinicalTrials.gov registry record, live from the dataset. See our editorial standards & corrections policy, the methodology behind these numbers, or report a data error.