Genetics of Ehlers-Danlos Syndrome

NCT03093493 | Completed

• 1 other identifier: H-36286
• Study Type: observational
• Target: 334
• Locations: 1 country
• Sites: 1

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.

Conditions

Genetics Syndrome; Ehlers-Danlos Syndrome

Outcome Measures

Primary Outcomes (1)

• Causative genetic variations relation to EDS

  Comparing genetic variations between EDS patients and their family memebers with or without EDS by next generation sequencing

  one year

Study Arms (2)

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

EDS family members with or without EDS

Family members of EDS patients with or without EDS. Genotyping will be done.

Diagnostic Test: Genotyping

Interventions

Genotyping DIAGNOSTIC_TEST

Genotyping by next generation sequencing

EDS family members with or without EDS; EDS patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

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.

Sponsors & Collaborators

• Boston University: lead

Study Sites (1)

Boston Medical Center

Boston, Massachusetts, 02118, United States

Location

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.

MeSH Terms

Conditions

Genetic Diseases, Inborn; Ehlers-Danlos Syndrome

Interventions

Genotype

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Skin Diseases, Genetic; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases

Intervention Hierarchy (Ancestors)

Genetic Phenomena

Study Officials

• Michael Holick, MD PhD

  Boston Univeristy

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 22, 2017
• First Posted: March 28, 2017
• Study Start: August 25, 2017
• Primary Completion: January 2, 2025
• Study Completion: April 3, 2025
• Last Updated: January 27, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)