FAQ: The HEDGE Study

What is the HEDGE Study?

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.

Do you have an IRB for this study?

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

What is the process involved?

Individuals who may meet the hEDS 2017 criteria should first complete the surveys in the Global Registry. Based on those responses, we will invite candidates who are eligible, and after obtaining informed consent, we will arrange for a blood sample to be taken either at your home or close to where you live for genetic tests, including whole-genome sequencing.  Fasting is not required. These tests will help our researchers in their efforts to identify the possible genetic cause(s) of hEDS.

Where is the study being held?

We are no longer doing in-person enrollment events in 2020 or 2021 and hope to conclude the enrollment through virtual screening. 

How do I get involved with the study?

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, complete the personal and family history surveys, and upload the necessary documents to show the diagnosis. 

Typically, this will be the record from the initial visit where your provider made the diagnosis.​ A document or record simply stating you meet the requirements will not be sufficient; the specific elements required by the 2017 guidelines must be included. Some examples of documents would be; a letter confirming the diagnosis, or a hEDS 2017 diagnostic checklist completed by your healthcare providor.

If you do not have the full record from the visit when your doctor first established the diagnosis, you should request it from your doctor.  However, if that visit was before 2017, it is unlikely the record will contain the required itemized information. After you obtain the record establishing your diagnosis under the 2017 criteria, you should upload it to the EDS and HSD Global Registry.

You can find the registry here: ehlers-danlos.com/eds-global-registry/. If accepted, we will contact you to obtain consent and arrange the blood draw.

Is there a cost to participate in the study?

There is no cost to you to participate in the study itself.

Can I take part from anywhere in the world?

Currently, we are able to arrange blood draws from all areas of the world except Central, South America, and the U.S. Minor Outlying Islands. Upon invitation, we will work with each candidate to ensure we have adequate coverage to complete the blood draw with one of our providers.

Will my travel expenses be paid for?

Your travel expenses will not be covered. Costs to consider may include travel, lodging, food, and conference registration (if applicable).

What if I had already been invited to attend an in-person screening?

Currently, all enrolment is virtual, you will need to upload all the necessary documents onto the registry and we will contact you if you meet the criteria so that we can arrange the consent and the blood draw. If there are any in-person events in the future we will let everyone know.

I already uploaded my documents to the Global Registry for an in-person event earlier this year. What do I need to do?

If you have already uploaded the necessary documents and completed all required surveys on our Global Registry, then you don’t need to do anything.  We will review the information you uploaded and determine if those documents contain the information required to meet the 2017 criteria. For most people invited to screening events, the uploaded documents did not have the necessary information. If you were invited to a screening event, we will let you know before the end of 2020 whether your uploaded documents meet the requirements.

How long will the process take?

Your consent should take approximately 15minutes and your blood draw is around 15-30 minutes.

What steps are being taken to ensure the blood draws are within COVID-19 safety guidelines?

As physical distance is impossible during the blood draw process, the following protective measures will be in place: 

  • All examiners will be required to wear facial protection that covers the eyes, nose, and mouth
  • All examiners will be required to wear gloves

Is there an age limit for study participants?

The age limit is 16 years to 99 years old.

Will my research data be kept confidential?

Yes. The EDS Global Registry data is securely stored on LinaDNA 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 LunaDNA platform and about the EDS Global Registry please refer to the frequently asked questions (FAQ) listed at the click here.
In addition to the written consent form, if you are selected to participate in the HEDGE study, you will also be asked to view a consent video presentation, which can be viewed here.

Will DNA be sold?

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.

Who funded HEDGE?

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.

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