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Genetics of Ehlers-Danlos Syndrome

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ClinicalTrials.gov Identifier: NCT03093493
Recruitment Status : Recruiting
First Posted : March 28, 2017
Last Update Posted : June 1, 2018
Sponsor:
Information provided by (Responsible Party):
Michael F. Holick, Boston University

Brief 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.


Condition or disease Intervention/treatment
Genetics Syndrome Ehlers-Danlos Syndrome Diagnostic Test: Genotyping

  Show Detailed Description

Study Type : Observational [Patient Registry]
Estimated Enrollment : 60 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Official Title: Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome
Actual Study Start Date : August 25, 2017
Estimated Primary Completion Date : August 2019
Estimated Study Completion Date : December 2019

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
EDS patients
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 EDS diagnoses. Genotyping will be done.
Diagnostic Test: Genotyping
Genotyping by next generation sequencing

EDS family members with or without EDS
Family members of EDS patients with or without EDS. Genotyping will be done.
Diagnostic Test: Genotyping
Genotyping by next generation sequencing




Primary Outcome Measures :
  1. Causative genetic variations relation to EDS [ Time Frame: one year ]
    Comparing genetic variations between EDS patients and their family memebers with or without EDS by next generation sequencing


Biospecimen Retention:   Samples With DNA
Blood and saliva for DNA extraction to use in genetic testing of children and adults with EDS and their relatives will be collected. Medical records from other institutions and notes from 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), other metabolic or genetic disorders and laboratory results, radiology reports and images, and genetic testing that support these diagnoses. Subjects' peripheral vein blood, saliva and pictures will be taken. A clinical evaluation will be performed to document clinical signs for EDS. No clinical interventions will be performed. No patients' identifiers will be reported.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
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 EDS diagnoses.
Criteria

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • Diagnosed as other metabolic or genetic disorders in EDS suspected subjects.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03093493


Contacts
Contact: Michael F Holick, MD PhD 617 638 4546 mfholick@bu.edu
Contact: Grace Yoon, BA 617 638 4546 Ghyoon@bu.edu

Locations
United States, Massachusetts
Boston Medical Center Recruiting
Boston, Massachusetts, United States, 02118
Contact: Michael F Holick, PhD, MD    617-638-4546    mfholick@bu.edu   
Sponsors and Collaborators
Boston University
Investigators
Principal Investigator: Michael Holick, MD PhD Boston Univeristy

Responsible Party: Michael F. Holick, Professor of Medicine, Boston University
ClinicalTrials.gov Identifier: NCT03093493     History of Changes
Other Study ID Numbers: H-36286
First Posted: March 28, 2017    Key Record Dates
Last Update Posted: June 1, 2018
Last Verified: May 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Ehlers-Danlos Syndrome
Syndrome
Disease
Pathologic Processes
Hemostatic Disorders
Vascular Diseases
Cardiovascular Diseases
Hemorrhagic Disorders
Hematologic Diseases
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases
Skin Diseases