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

JTC

J Thomas Callaghan

Principal Investigator

Status: Enrolling By Invitation Ages: 18 Years - 100 Years Gender: All Genders Phase: N/A 2 Locations

Brief Description

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

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

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

 

Interested in participating?

Enrollment in IU School of Medicine clinical trials is managed through our All IN for Health program. Many studies only accept people who are part of an invited group. Visit allinforhealth.info to connect with the study team, or contact your doctor to see if you are eligible.