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. Our moonshot is a clinical research study with the goal of finding the underlying genetics and gene expression/s of hEDS. The research will start by enrolling 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)
Individuals who may meet the hEDS 2017 criteria should first complete the surveys in the Global Registry. Based on those responses, we will select candidates for further in-person screening by EDS experts. After screening, we will offer those candidates who meet the enrollment criteria the opportunity to participate in the genome study. After obtaining informed consent, we will draw a blood sample (fasting is not required) for genetic tests, including whole genome sequencing. These tests will help our researchers in their efforts to identify the possible genetic cause(s) of hEDS.
We will be holding screening events globally during 2019 and 2020. Once you begin your application you will be informed of the locations currently on offer.
To be considered for the study, you must first have a diagnosis of hEDS given by a doctor, then enroll in the EDS global registry and complete the personal and family history questions. You can find the registry here: ehlers-danlos.com/eds-global-registry/. Once you have enrolled on the registry, you can then complete the application form to be considered for the study: ehlers-danlos.com/heds-genetic-research-study. If accepted, you will be contacted with an appointment date and time.
There is no cost to you to participate in the study itself.
Your travel expenses will not be covered. Costs to consider may include travel, lodging, food, and conference registration (if applicable).
Your participation in the study should take about one hour (not including travel time).
The age limit is 16 years to 99 years old.
Yes. The EDS Global Registry data is securely stored on the Platform for Engaging Everyone Responsibly (PEER platform) and held in an environment that is compliant with rules related to privacy and security of information, including those of European General Data Protection Regulation (GDPR). To learn more about the PEER platform and about the EDS Global Registry please refer to the frequently asked questions (FAQ) listed at the bottom of the EDS Global registry page.
Yes. The blood sample will be used for whole genome sequencing and the results will remain private and confidential. The sequencing data will be analyzed by researchers to look for the genetic causes of hEDS. Researchers viewing these samples and data will not have access to identifying information.
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.
Fill out the following fields, click submit, and someone from the research team will get in touch with you.