FAQ: The HEDGE Study

HEDGE Study, the search for the genetic cause of hEDS

Out of the 14 identified subtypes of the Ehlers-Danlos syndromes, hypermobile EDS (hEDS) is the most prevalent type and is the only one for which we currently do not have a genetic marker. This clinical research study has the goal of finding the underlying genetics and gene expression/s of hEDS. The research study enrolled 1000 study participants with a confirmed diagnosis of hEDS based on the 2017 criteria.

This study has Institutional Review Board oversight and approval by the Genetic Alliance (IORG0003358) IRB (IRB00003999). Genetic Alliance Federal Wide Assurance number is: FWA00017292. More information can be found on this IRB by putting Genetic Alliance in the NAME search field on the Office of Human Research Protections website.

Protocol EDS002 has been approved by the Genetic Alliance IRB (Federal registration number IORG0003358)

We are no longer recruiting for this study. We encourage you to enter your details on our Global EDS and HSD Registry for future research opportunities. You can find more information about the registry here.

The analysis part of the study is now underway, and this is forecast to take 2 years and will lead to a publication with the results. These will be shared on all our social media platforms and our website, and will feature in a leading journal which will have gone through rigorous international independent peer review. 

The age limit is 16 years to 99 years old.

It is important to remember that this is a research study and not a diagnostic test. However, if the study identifies a genetic variant that appears to be responsible for hEDS, we will notify participants with that genetic variant and provide further explanatory information. Please see the consent form for further information about return of results.  

There will be no further communication related to your involvement in the study so please keep an eye on our website and social media relating to HEDGE updates.  

Fill out the following fields, click submit, and someone from the research team will get in touch with you.

To preview the consent form a participant signed, please click here
In addition to the written consent form, people viewed a consent video presentation, which can be viewed here.

Participants in the HEDGE study have consented to their blood samples being tested for whole genome sequencing. The results of these tests are private and confidential. The DNA is not sold to a third party. Sequencing data will be analyzed by researchers to look for the genetic causes of hEDS. Researchers viewing the data will not have access to identifying information.

HEDGE is fully funded by gifts from two anonymous private donors, whose families have been impacted by hypermobile EDS. None of the individuals funding this study have any commercial interest, ownership, or rights to any of the data from this study.