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NCT03093493 · ClinicalTrials.gov registry record
Genetics of Ehlers-Danlos Syndrome
A clinical trial, sponsored by Boston University.
- Completed
- Registry status
- 334
- Enrollment target
NCT03093493: Completed study, sponsored by Boston University.
NCT03093493 is a clinical trial that has completed, run by Boston University. The registered enrollment target is 334 participants. According to ClinicalTrials.gov, the official US trial registry.
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.
Primary Outcome
Comparing genetic variations between EDS patients and their family memebers with or without EDS by next generation sequencing
Interventions
- DIAGNOSTIC_TEST Genotyping
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 334 participants |
| Start Date | 2017-08-25 |
| Est. Completion | 2025-04-03 |
What the finished NCT03093493 record still lists
NCT03093493 is an observational study that tracks outcomes without assigning an intervention. The registered 334 participants enrollment target is mid-sized for trials with a published cap.
The record links to 0 conditions, and to 1 intervention - of which Genotyping is the first listed.
NCT03093493 does not publish any study locations in the registry export this page uses.
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.
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