Genetics of Ehlers-Danlos Syndrome
Completed
Conditions studied: Genetics Syndrome, Ehlers-Danlos Syndrome
In brief
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.
Key facts
- Study ID
- NCT03093493
- Run by
- Boston University
- People needed
- 334
- Starts
- 2017-08-25
- Expected to finish
- 2025-04-03
- Last updated by the study team
- 2026-01-27
Who can join
Age: any. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Children and adults of any age
- Both gender
- Positive history of hypermobility or other related signs/symptoms of EDS these include among others a history of gastroparesis, orthostatic hypotension and easy bruising in EDS patient group.
You may not qualify if…
- Diagnosed as other metabolic or genetic disorders in EDS suspected subjects.
Where it is running
- Boston Medical Center — Boston, Massachusetts, United States
Full record on ClinicalTrials.gov
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