Research Trials for People with hEDS

Many people with hypermobile Ehlers-Danlos syndrome (hEDS) wonder whether research trials can offer new hope, better care, or a chance to help others. Although hEDS is under-researched compared to other chronic conditions, the number of trials is increasing—slowly—and new tools like telemedicine and online registries are making it easier to participate. This article explains how research trials work for people with hEDS, what they typically study, how to find and enroll in one, what they cost (if anything), and what participants might gain.

Overview of Where Trials Happen and Who Runs Them

• Research trials for hEDS in the U.S. usually take place at

  • Large academic medical centers

  • University hospitals

  • Connective tissue disorder clinics

  • Pediatric hospitals (for studies involving children)

• Principal investigators (the doctors or researchers who lead the study) are most often:

  • Medical geneticists

  • Rheumatologists

  • Pediatric rheumatologists

• Depending on the topic, research teams may also include

  • Physical therapists

  • Cardiologists

  • Pain management specialists

  • Orthopedic surgeons

  • Psychologists or psychiatrists

Internationally, the situation is similar, though national health systems (e.g., in the UK or Canada) often make it easier to centralize research efforts and patient recruitment.

What Are Trials Studying?

The most common topics studied in hEDS research include

• Pain management and fatigue

• Physical therapy and exercise outcomes

• Mental health, functional ability, and quality of life

• Diagnostic criteria and classification

• Comorbidities such as POTS or mast cell activation

• Healthcare access, misdiagnosis, or costs

• Genetics and molecular pathways (although no hEDS gene has yet been identified)

Estimated Distribution of hEDS Research Topics (U.S. and international combined)

Based on available studies from sources like ClinicalTrials.gov, published literature reviews, and EDS Society summaries, approximate topic distribution is as described in the following chart.

Study Types and How They Work

Because hEDS is rare and complex, most U.S. studies use observational designs such as

• Surveys or questionnaires

• Registries (databases of people with hEDS who agree to be contacted)

• Medical chart reviews

Interventional studies—where researchers test a treatment or therapy—are less common, but may include

• Exercise or physical therapy programs

• Rehabilitation or pain management techniques

• Surgical or device-related outcomes (very rare)

Most interventional studies are small, non-randomized, and open-label (meaning everyone knows what treatment is being used).

What Happens When Someone Finds a Trial?

Once a person identifies a research study they may qualify for, the next steps typically include

• Contacting the research coordinator or study site listed in the study posting (e.g., on ClinicalTrials.gov).

• A phone or email screening to check eligibility based on diagnosis, age, symptoms, and health history.

• Scheduling a baseline visit (in person or remote) to provide informed consent and complete assessments.

• Ongoing participation depending on the study (may include surveys, clinic visits, telehealth sessions, imaging, physical exams, or treatment protocols).

The study team explains everything in plain language before asking anyone to sign up. Participation is always voluntary.

Consent and Ethics for Adults and Children

In the U.S., all research studies must be approved by an Institutional Review Board (IRB), which ensures safety, fairness, and clarity.

For adults (18+)

• Informed consent must be given in writing

• Participants are told about risks, benefits, procedures, and alternatives

• No one is required to join, and they can withdraw at any time

For children (under 18)

• A parent or guardian must give permission

• The child must also give assent (agree to join), usually if they’re age 7 or older and capable of understanding

Researchers are trained to explain studies in developmentally appropriate ways. No child is forced to participate.

What Participation Involves

Study visits vary widely depending on the type of study. Some involve a one-time survey. Others include months of physical therapy or follow-up.

Participation might include activities such as

• Joint exams and Beighton score testing

• Bloodwork or imaging (e.g., X-rays, MRIs)

• Questionnaires on fatigue, pain, anxiety, or functioning

• Wearing a monitor or device for a few days

• Physical therapy sessions at home or in a clinic

In pediatric studies, there may also be neurodevelopmental assessments.

Benefits to Participants

• Direct benefits may include

  • Physical therapy tailored to hEDS

  • Pain or fatigue reduction

  • Education or monitoring not available elsewhere

  • Help from an expert team

  • Some participants report better posture, less fatigue, and better function months after completing a study.

  • Some find value in being heard and helping future patients.

• Indirect benefits include

  • Contributing to medical understanding

  • Being connected to other people with hEDS

  • Finding providers who understand the condition

Risks and Downsides

Risks are typically low, but possible downsides include

• Fatigue or injury during physical testing or therapy

• Discomfort with assessments or questions

• No personal benefit from participation

• Time, travel, or childcare burdens

Who Pays and What’s Covered?

• In the U.S., many academic and NIH-funded trials reimburse for

  • Travel and parking

  • Lodging (for long-distance participants)

• Indirect costs—like lost wages, childcare, or non-covered care—may not be reimbursed. Some trials offer stipends.

• Federal law requires most insurance plans to cover routine medical care received as part of a clinical trial. Medicaid and Medicare also provide this coverage.

Remote and Telehealth Options

Because people with hEDS may be geographically spread out or have mobility limitations, many new trials are using

• Online surveys

• Electronic consent (eConsent)

• Telemedicine visits

• Hybrid models (some in-person, some virtual)

This has improved access, especially for rural patients or those with fatigue and pain.

How Many Trials Are There?

The number of hEDS-specific trials is increasing but still small.

In a typical year, 3–7 trials in the U.S. are active or recently completed. A few more may exist internationally.

Most are observational, with fewer interventional studies.

How to Find a Trial

• Use ClinicalTrials.gov and search “Ehlers-Danlos syndrome hypermobile”

• The EU Clinical Trials Register registers participants for international studies

• The WHO ICTRP covers global trials

• The Ehlers-Danlos Society posts research opportunities

• Patients can ask their doctor or join patient registries directly to hear about studies.

Summary

Research trials for hEDS are still relatively few, but growing. Most focus on pain, fatigue, physical therapy, or improving daily life—not just genetics or diagnosis. Patients who participate may benefit directly or indirectly. Academic centers, children’s hospitals, and online tools all play a role in making these studies possible. To find a study, start at ClinicalTrials.gov or the Ehlers-Danlos Society’s website.

Increasing patient-centered design, remote access, and inclusion will be key to building better trials for people with hEDS in the future.