EDS & HSD Global Registry

The overall prevalence of Ehlers-Danlos syndromes (EDS) is cited as 1 in 5000, and some types of EDS are rarer than 1 in 5000. Some types of EDS affect less than 1 in a million or are ultra-rare in that they affect small numbers of individuals and families. No disease-specific treatments are available for any type of EDS or HSD, so the conditions are managed by addressing each person’s symptoms. Because they can cause a variety of symptoms throughout the body, people often require multiple providers to manage their care.  

Those with EDS and HSD can experience many symptoms and respond differently to management strategies. This variation poses significant challenges during the diagnostic process, which is 10 years or more in most cases. Although effective management of EDS and HSD relies on individualized care and management plans, significant gaps in accessible care and clinical proficiency pose challenges to this for most EDS and HSD patients.

“People with Ehlers-Danlos syndromes or hypermobility spectrum disorders can experience many complications and many comorbidities that have a profound impact on their health and quality of life. A focus on clinical research in EDS and HSD is essential. We lack diagnostic markers for the most common type of EDS and for HSD, and we need to continue building a strong evidence base for the safety and effectiveness of treatments across all the types of EDS and HSD.” -Dr. Alan Hakim, Chief Medical Officer 

Needs for an improved understanding of clinical and management topics for EDS and HSD are wide-ranging. Research can respond to these needs; breakthroughs will speed up diagnosis, improve care, improve outcomes, and save lives. Our approach to research prioritizes clinical significance and community relevance. We champion systems that respond to the lifelong needs of those who live with these conditions. 

Our solution builds on the existing success of our world-class DICE Global Registry, a powerful research platform that curates engagement across the world. Through clinically-validated surveys, our Registry accelerates research on a global scale.  

The expansion of our research programming through our Registry will take the shape of: 

• Investigating clinically significant and community-centered concepts that advance understanding, such as diagnostic criteria, analysis of genetic markers, and pain management 

• Recruitment and retention programming 

• Administration of global RFPs to facilitate collaboration, promote equity, and aid in research dissemination 

• Widening our impact through collaborative studies with our network of global experts 

To accomplish this, we’ll utilize REDCap, which we’ve configured on AWS to meet our global reach and data protection requirements.  

"The Ehlers-Danlos Society is committed to increasing the availability of clinical services and decreasing the diagnostic odyssey. Geographical, financial, and cultural considerations will advance the highest standards of care to improve the lives of people with EDS and HSD worldwide." -Lara Bloom, President & CEO   

Our solution primarily serves those affected by EDS and HSD around the world, and their needs are at the center of all our research endeavors. Our approach to research prioritizes clinical significance and community relevance. We champion systems that respond to the lifelong needs of those who live with these conditions. An example of this is the feedback mechanism in our Registry. >span class="NormalTextRun SCXW183990375 BCX0">gh this, participants have an opportunity to tell us about what is important to them, as well as communicate the impact that participating in our research has on them.   

Our solution also impacts caregivers, loved ones, practitioners, and researchers looking to advance therapies, management strategies, and clinical understanding of EDS and HSD. By expanding our research offering, we directly impact the lay audience and clinical understanding of these conditions, which improves lives.

We support the development of effective and equitable therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD. Our programs are managed internally and benefit from the provision of program support, graphics, communications, and financial management internally. 

Our in-house research team is well-equipped to deliver the creation, administration, and analysis of qualitative and quantitative research. We do have consultants and contractors on retainer who will provide additional support as needed for areas not covered internally, such as specialized analysis or specific subject matter expertise  

We have close working relationships with regulatory compliance representatives, with who our in-house data protection team collaborates to ensure our compliance obligations are met. This enables us to navigate the complexities of international research and data collection primarily in-house. 

Delivering high-quality research outputs in an environment where research is only a piece of the puzzle can be a challenge. As a non-profit whose scope extends beyond research, our research outcomes are disseminated through conferences and meetings, custom digital materials, and dedicated community education programming. This combination is novel for an organization of our size and presents an immense benefit to our community. However, the proportional cost of delivering global, clinically relevant, community-centered research programming can pose significant challenges.  

As we grow, we want to prioritize sustainable outputs from our research activities that align with our roadmap. Our 5 and 10-year planning aims to administer a minimum of 3 surveys each year beginning in 2024, which are separate from our anticipated collaborative surveys and/or studies. This would be a transformative commitment to studies dedicated to EDS and HSD. We’re seeking this Prize to assist us in the development, translation, and regulatory costs associated with delivering on that commitment.

Dr. Hakim is an Acute Physician and Rheumatologist with a specialist interest in heritable disorders of connective tissue. While supporting >span class="NormalTextRun SCXW18384350 BCX0">s a member of our Medical and Scientific Board and as a Member of the Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.  

 
As the spearhead of our DICE (Data, Inclusion, Collaboration, and Excellence) EDS & HSD Global Registry - helping researchers throughout the world to advance >span class="NormalTextRun SCXW18384350 BCX0">understanding of the EDS, HSD, and related symptoms and conditions, through the Registry data and by sharing new surveys for Registry members to participate in is at the forefront of Dr. Hakim’s work.

We champion creating systems for feedback from those who live with these conditions.  Our approach to research prioritizes the combination of clinical significance and community collaboration in a novel way.  

Our research portfolio is innovative in its scope, as well as in the community it serves. As outlined so well in the call for applications in the Horizon Prize itself, rare diseases too often face barriers and inefficiencies in receiving care. What we’ve done with our Registry is create an innovative way for a global audience to contribute to research that wouldn’t be possible otherwise, for lack of adequate sample size, translation services, or programmatic support.  

We ensure that our solution is sustainable by designing it to be responsive to practitioner and community needs. The result is framework for global research that could be extended to other rare disease contexts.

Impact goals 2023-2024: 

• Administration of surveys for community participation 

• Dissemination of research priorities based on community needs/feedback 

Impact goals 2025-2029: 

• A deeper understanding of pain management techniques, therapies, and modalities within the EDS and HSD community 

• Dissemination of findings to professional and lay audiences 

• Actionable datasets for further research into pain management

We’ll measure progress by: 

• Project milestones 

• Retention and participation figures 

• Examples include total enrollment, survey completion, invitation response time, etc. 

• Reach and audience metrics 

• The number of countries reached, languages used, etc.  

As rare diseases, there is much to be understood about EDS, HSD, their comorbidities, and the management of these conditions over a lifetime. While much has been accomplished to bring us to our current understanding of these connective tissue disorders, research is an essential piece in advancing understanding of EDS and HSD both clinically and for those it impacts. Through our EDS & HSD Global Registry, we facilitate research and collaboratively engage in studies with some of the world's most prolific and knowledgeable EDS professionals, delivering world-class research tools that span everything from qualitative survey work to large-scale genetic studies. In this next phase of our project, we're building on our existing success and delivering impactful studies to our community.

Our REDCap is used for data collection, program applications, and study management. Since its launch in January 2023, we have been successfully delivering global projects with a reach of more than 15,000 participants.  

We plan to build on this foundation by: 

• Enhancing security infrastructure  

• Digitization of applications, program materials, and communications 

• Leveraging insights to develop recruitment and retention tools 

• Expand our library of translated materials 

• Delivery of four pain management studies  

• Participation in dissemination activities for study results/publications 

Full-time: 10 

Part-time: 2 

Contract/other: 3 

The first phases of our solution have been in place since 2019, and we’ve been developing this next phase of the project since the summer of 2022.

We aim to have an encouraging approach to inclusion in the research we do, share, and fund. This has looked like:  

• Studies that are shared through the Society require researchers to discuss how they have addressed diversity considerations within their study design. 

• The Society has created new priorities to diversify medical imagery, research, and outreach efforts through initiatives such as the “Breaking Down Barriers: Diversifying Medical Imagery” Project. 
  

Community 

• Community members requested an increased focus on resources aimed towards the quality of life, which has shaped our projects over 2022 and will as we move into 2023. 

• To increase access, we offer a collection of translated materials, which includes conference videos and medical articles. We have begun to explore translation processes that will allow for more fluid translation material and access for community members. 

• When sharing content, we are committed to providing alternative text, transcriptions, and/or close captioning whenever possible. 

• We are intentional about recognizing acknowledgment and awareness days from a lens of empowerment through our messaging. 

The Ehlers-Danlos Society is dedicated to advancing and accelerating research and education in Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). We support the development of effective and equitable EDS and HSD therapies and work collaboratively to improve the lives of individuals affected by EDS and HSD. We are driving forward Care, Access, Research, and Education through a dedicated helpline team supporting individuals, families, and carers, and medical professionals worldwide through a telephone helpline and email support. Vibrant online communities on social media with over 200,000 members and a closed group on Inspire’s health forum with over 120,000 members where individuals can go for peer-to-peer support and advice from our helpline team. Development of our Youth Program providing access to age-appropriate resources and support services, events, and community-building activities, in multiple languages, and engaging and inclusive mediums. The Ehlers-Danlos syndromes and hypermobility spectrum disorders are genetic disorders, and individuals can be symptomatic from birth. With earlier diagnosis and intervention, and with support networks, our younger community members can thrive! Many spend years coping alone with symptoms, missing out on social occasions, schooling, or hobbies, and not being able to express the grief and frustration they feel. For children, teens, and young adults affected by rarer types of EDS, there may also be life-limiting complications. Global Centers and Networks of Excellence Program. The Ehlers-Danlos Society is committed to increasing the availability of clinical services for people living with EDS and HSD, decreasing the diagnostic odyssey, and standardizing communication and care. Toward that end, we are developing a program of Centers and Networks of Excellence around the globe. Our aim is to fund $1 million in research each year through our research grant program, providing grants to researchers into EDS and HSD. We share opportunities for our community to participate in research to progress understanding and knowledge to improve diagnosis and care and host a registry to facilitate medical research. Project ECHO® addresses population health in a scalable way — moving knowledge instead of people via tele mentoring and collaborative care with the philosophy of we can ‘all teach, and all learn’. In 2019 The Ehlers-Danlos Society launched EDS ECHO, a revolutionary program that seeks to support health professionals around the world in caring for patients with EDS and HSD. The first-ever rare diseases ECHO, EDS ECHO seeks to tackle a key issue facing patients with EDS and HSD: lack of knowledgeable clinicians. EDS ECHO is helping us reach clinicians all over the world, arming them with the tools and knowledge to care for their own patients with EDS and HSD. 

We will bring in money to fund our work by soliciting donations from the public, both for our general operations. For specific programs, we raise funds through various channels such as physical mail, social media, in-person networking, etc. We also create educational events for healthcare professionals and the public, during which we raise funds. We also search for many different types of grants that can support the work we do. We manage our expenses to fit within the funds we raise and adjust our programs accordingly. 

We have been able to find several major donors who share our passion for our programs and research activities, such as our HEDGE study. We have also been sharing details of what we've accomplished with the public which has resulted in a steady growth of general donations. These have allowed us to create and grow and reserve funds to help ensure we can continue operations through any unexpected hardships.