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Genetics of Ehlers-Danlos Syndrome

NCT03093493 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 334

Last updated 2026-01-27

No results posted yet for this 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.

Conditions

  • Genetics Syndrome
  • Ehlers-Danlos Syndrome

Interventions

DIAGNOSTIC_TEST

Genotyping

Genotyping by next generation sequencing

Sponsors & Collaborators

  • Boston University

    lead OTHER

Principal Investigators

  • Michael Holick, MD PhD · Boston Univeristy

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-08-25
Primary Completion
2025-01-02
Completion
2025-04-03

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03093493 on ClinicalTrials.gov