The image is a promotional banner featuring a family group and information on a medical study. On the left side, bold white text reads, "A Natural History Study of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders," set against a soft blue gradient background with a subtle dotted wave pattern. The right side of the image shows a family of diverse ages and ethnicities, gathered together with smiles. They appear to be enjoying a moment, with an older person offering a small red item to a young child seated at the center. The family members include two older adults, two parents, and two children, all warmly engaged with one another. The blue gradient background smoothly transitions towards the family photo, curving around the family on the right. This composition emphasizes a welcoming and inclusive atmosphere while promoting the study.

How Do the Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) Progress Over Time?

In December 2023, The Ehlers-Danlos Society received a generous donation of $6.7 million from the Mike and Sofia Segal Foundation to fund critical research. Part of this funding has been allocated to establish a $2.5 million biobank, and we are thrilled to announce that their donation has also made it possible to launch a five-year natural history study. This much-needed $920,000 study will provide groundbreaking insights into the progression of these conditions over time. 

Why is this Natural History Study Important for EDS and HSD? 

Natural history studies are fundamental to medical research, especially for complex conditions like EDS and HSD. They provide critical information on how these conditions evolve as people age, offering valuable insights for better diagnosis, care, and treatment options.  

While previous studies in EDS and HSD have focused on specific comorbidities, they often capture just one point in time. Much of the research to date has been focused on joint issues and chronic pain, despite leading research that demonstrates EDS and HSD can affect multiple organ systems. By studying natural history, we can help clinicians recognize these conditions sooner, leading to earlier diagnoses and more effective interventions. This study will also contribute to the development of clinical guidelines and suggest future avenues for research on treatment options. 

Study Overview 

Part one of this two-part study will focus on a retrospective clinical review of patients with hypermobile Ehlers-Danlos syndrome (hEDS) who have been seen by Dr. Clair Francomano at the Ehlers-Danlos Clinic at Indiana University and Greater Baltimore Medical Center. The review will examine the medical records of these patients, identifying common characteristics and symptoms, and exploring how they have changed over time. 

Part two of this study will start in 2027. It will follow two groups: first, same group of patients from part one, and second a new group who will be asked to join the study through the DICE global registry. The study will then run for five years to observe how their symptoms evolve. This phase will track clinical outcomes, comorbid conditions, and other factors that impact patient quality of life. By gathering and analyzing this data, we will gain a clearer understanding of how EDS and HSD as a whole and hEDS specifically develop as people age.  

While the research control group is focused on hEDS, the insights gained will help inform future research into all types of EDS and HSD, leading to better care protocols and insights into long-term patient management. 

Timeline 

  • The data collection phase is currently underway. Eligible participants have been identified, and chart audits are ongoing. This process will continue into 2025. 
  • Data analysis and additional chart audits will begin and continue throughout 2025. 
  • We will begin working on the requirements for Phase Two of the study, incorporating emerging information from the Road to 2026 initiative. This timeline allows us to adjust to any new developments. 
  • We are targeting January 2027 to begin enrolling prospective participants from the community as part of Phase Two. 

How Can You Get Involved? 

In 2027, individuals with a type of EDS or HSD will be able to participate in the study by filling out a survey that will be available on our website. This current page will also serve as an enrollment portal for those interested in joining the study in 2027. In the meantime, you can join our DICE global registry to help with research, and stay informed by joining our mailing list to receive the latest updates about this study.  

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