Addressing the Musculoskeletal Phenotype in Hypermobile Ehlers-Danlos Syndrome: Biomarker Pilot Study

Study of Biomarkers in Hypermobile Ehlers-Danlos Syndrome (a connective tissue disorder)

C
Clair Francomano

Primary Investigator

J
J Thomas Callaghan

Primary Investigator

Enrolling By Invitation
18 years - 100 years
All
Phase N/A
32 participants needed
2 Locations

Brief description of study

The purpose of this study is to define additional diagnostic criteria for symptomatic patients with hypermobile Ehlers-Danlos syndrome (hEDS) by evaluating mast cell inflammatory biomarkers. Diagnosis is confirmed by a flare in clinical features that are responsive to treatment with mast cell stabilizers or antihistamines; this process allows the correlation of the dynamics of mast cell biomarkers versus clinical features to see if biomarkers predict mast cell activity or act as potential therapeutic targets.  The overall primary objectives are to develop a diagnostic patient phenotype involving biomarkers that does not require a flare as a diagnostic criterion, and to select a MC mediator cluster that reflects the dynamic fluctuations of the disorder.
 
THIS STUDY IS ENROLLING BY INVITATION ONLY - Subjects will be patients of Dr Clair Francomano's practice, and she will offer them the opportunity to participate. Patients will be queried about their interest in participating in the hypermobile Ehlers-Danlos (hEDS) study by their physician, one of the PIs.  This pilot trial will recruit all patients with an hEDS/MCA phenotype. The ICD/HIPAA may be discussed with patients at a regular clinic visit or by phone or telehealth before the CRC baseline visit. ICD/HIPAA will be signed in-person. A letter may be used to recruit patients from Dr. Francomano's patients.

Detailed description of study

Enrolled patients will undergo baseline testing on the CRC. 
•    Contact with the patients about the study can be via telephone or telehealth visits or in person as when they visit the CRC upon developing a flare-up of their symptoms. 
•    Patients will self-monitor for spontaneous flare-ups and flares will be confirmed with NIH-PROMIS survey and physician review and confirmed by tryptase values afterwards. 
•    Patients will visit the CRC during a flare. Flare assessments will repeat baseline tests except that DXA and TPSAB1 genetic testing will not be repeated. With the rebound of SARS-CoV2 and its omicron variant, we may test patients with a COVID Rapid Antigen test before proceeding with Visit 2. If negative, Visit 2 will proceed and a follow-up PCR test will be performed. If positive, the patient will be referred for Covid Outpatient therapy and the 2nd Flare visit will be rescheduled. However, Biobank samples may be collected. 
•    Patient recovery after the flare visit Recovery will be assessed by communicating by phone/email. If symptoms persist and the patient agrees, a 3rd CRC visit may occur with surveys, FIT evaluations, and inflammatory biomarker collection, and the patient will be discharged from the active phase of the study or upon return to usual prior state of health. 
•    Patients are not expected to participate in the live phase of the study beyond six months.
•    Patients will be monitored at least monthly for adverse events (AdE) after a flare or will be monitored at CRC visits and near the end of the trial.
•    Disease symptoms will be also evaluated with a global ordinate scale: improving, stable, and worsening in relation to baseline values at patient baseline. 
 

No investigational treatments will be administered in this study; however, patients will be allowed to continue their regular standard of care treatments, which may involve drugs or complementary medicines with unapproved indications for hEDS/MCA. 
 

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Ehlers-Danlos Syndrome
  • Age: 18 years - 100 years
  • Gender: All

Inclusion Criteria
•    Patients (male or female) recruited from Dr Francomano’s clinic 
•    Patients older than 18 years 
•    Patients able to give informed consent

Exclusion Criteria
•    Known Immunodeficiency Disease or HIV infection or treatment for HIV
•    Patients on systemic immunosuppressive agents, other than topical/inhaled steroids
•    Patients with active infection or infections within the past month
•    Patients abusing opiates or dependent on cocaine, amphetamines, opiates, benzodiazepines, or alcohol. 
•    Patients with life-threatening illnesses
•    Patients who have undergone major surgery within the prior 2 months or who plan to have major surgery within the 4 months after enrollment
•    Patients whose condition is attributed to another diagnosis
•    Female patients of child-bearing potential, who are known to be pregnant or are trying to become pregnant

 

This study investigates hypermobile Ehlers-Danlos syndrome (hEDS), a condition affecting the body's connective tissues, by evaluating specific markers in the blood called biomarkers. The purpose is to find new ways to diagnose hEDS without waiting for symptoms to worsen. This involves looking at how certain cells in the body, called mast cells, behave and how they might be used to understand the condition better.

Participants will not receive any investigational treatments but will continue their usual care. They will be monitored for flare-ups, which are sudden increases in symptoms, and will visit the study center during these times for tests. These tests will include surveys and blood samples to check for biomarkers. The study will also assess recovery after flare-ups through phone or email communication.

  • Who can participate: Adults over 18 from Dr. Francomano’s clinic, who can give informed consent, can participate. Those with certain infections, drug dependencies, or major surgeries are excluded.
  • Study details: Participants will self-monitor for symptom flare-ups and visit the study center during these times for testing. No investigational treatments are given; participants continue their usual care.
  • Study timelines: The study will last 6 months.
Updated on 07 Oct 2025. Study ID: CPHR-IIR-HEDS-MCA-BIOMARKERS, 10897
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only