Ongoing research in EDS

Ehlers-Danlos Syndrome (EDS) affects roughly 1 in every 5,000 people. What's being done to help mitigate it?

A zebra striped ribbon is the symbol for EDS awareness

By Erin Rought

What is EDS? 

Ehlers-Danlos Syndrome is a group of 13 genetic conditions that affect the connective tissues in the body. It is considered a rare condition, as 1 in 5,000 people are suspected to have it. However, the actual number is unknown. People with EDS normally visit multiple doctors to receive the best care for them, since everyone with EDS experiences diverse levels of severity for the symptoms.

What is the EDS Research Foundation? 

The Ehlers-Danlos Syndrome Research Foundation (EDSRF) was founded in January 2020 by Dr. Jennifer Berman and Dr. Alissa Zingman. The EDSRF is a non-profit organization run by two part-time employees and multiple volunteers. EDSRF supports research to improve the diagnostic or therapeutic care for people with EDS, HSD, and other related disorders. The EDSRF provides grants to researchers to support EDS medical projects, mostly in the United States. 

Ongoing Research 

Dr. Jane R. Schubart (Penn State College of Medicine), and Avnish Katoch (Research, Informatics, Clinical & Translational Science Institute, Penn State College of Medicine) will use TriNetX (a global federated health research network) to access electronic medical records across large healthcare organizations to determine the prevalence of Ehlers-Danlos syndrome and related comorbidities in the United States. 

Schubart is also set to decide the cost of care for people with EDS. She is using survey questionnaires. An understanding of the economic burden of EDS is important in advocating for the much-needed health care policy changed to help patients with EDS. This research is based in the United States, and includes direct medical cost, non-medical cost, and loss of income. 

Dr. Anne Maitland; Dr. Ilene Ruhoy (Chiari EDS Center, Mount Sinai South); and Dr. Isabella Brock are trying to assess the prevalence of HEDS/HSD, and autonomic dysfunctions, in patients found to have deficiencies in the innate immune compartment. The observations may lend support to the role of recurrent tissue injuries and aberrant tissue repair. 

Dr. Alissa Zingman (P.R.I.S.M Spine and Joint, Bethesda, MD) and Dr. Clair A. Francomano (Indiana University School of Medicine) plan to use survey questionnaires to assess the baseline state of provider knowledge, patient access to appropriate care, and the cost inadequacies to both patients and society.  

Earlier Research 

Dr. Jessica Pizano and Dr. Anne Maitland (NovaCombian Research Institute/Clinical Paradigms LLC); Dr. Alissa Zingman (P.R.I.S.M Spine and Joint); Dr. Clair A. Francomano (Indiana University School of Medicine); and Dr. Jane R. Schubart (Penn State College of Medicine) discovered that hypersensitivity disorders (including mass cell activation disease) are emerging as a comorbidity with the hypermobile type of EDS. They discovered that nutritional testing is a promising approach to prescribe nutritional therapies to meet the needs of patients with EDS. 

Dr. Jane R. Schubart, Miss Susan Mills (MPH, RN) and Dr. Heather Stucky-Peyrot (Penn State College of Medicine) studied twenty-eight people who have EDS for over a decade to figure out the trajectory in symptoms. 

Dr. Alissa Zingman (P.R.I.S.M. Spine and Joint, Bethesda MD); Miss Kelly Tuchman (Metropolitan Neurosurgery Group, Bethesda MD); Dr. Fraser Henderson Sr (University of Maryland Capital Region Medical Center, Largo MD & Metropolitan Neurosurgery Group, Bethesda MD); and Dr. Clair A Francomano (Indiana University School of Medicine, Indianapolis) tried to determine the safety and efficacy of surgical release of the filum terminale

(FT)  for the treatment of tethered cord syndrome (TCS) in patients who have hypermobile EDS. They used thirty patients, all female, who were treated by a single neurosurgeon for surgical release. They completed surveys with items about the pre- and postoperative symptoms, pain levels, and satisfactions. It was discovered the surgical release was safe and effective in that cohort. 

Next batch? 

The Ehlers-Danlos Society has set up a roadmap to develop its research priorities. They are looking for research in education; basic sciences; epidemiology; therapeutics; and social sciences. The Ehlers-Danlos Syndrome Research Foundation is currently not funding bench research. The EDSRF is looking to fund research that focuses on: Impact, diagnosis, and management of EDS; Interventions, targeted therapies that are solution-based and impactful; Studies with meaningful, near-immediate effect on clinical practice; Musculoskeletal studies; Long-term outcomes of spine and joint surgeries, and non-surgical interventions including complications and infection rates; EDS and HSD comorbidities and the impact of these comorbidities; and Epidemiology, natural history, or clinical history. 

Wanna chat? Email Erin at er965821@ohio.edu or follow her on Instagram @attitudesgenetic.