Large-scale hEDS Study Begins Recruiting Participants

Large-scale hEDS Study Begins Recruiting Participants

The Ehlers-Danlos Society announced that the large-scale Hypermobile Ehlers-Danlos Syndrome Genetic Research Study, aiming to find genetic markers underlying hypermobile Ehlers-Danlos syndrome (hEDS), has started recruiting participants.

Following two independent and anonymous donations — each around $1 million — to the Ehlers-Danlos Society in early 2018 and 2019, the organization created the Hypermobile EDS Genetic Research Network, made up of an international group of physicians, geneticists, and technical staff aiming to find the genetic causes of hEDS.

The study will extend over the next nine months, and recruit 1,000 participants diagnosed with hEDS, according to the most recent clinical criteria for the disease (set in 2017). To assess genetic variants (or mutations) that may underlie the condition, the study will screen and sequence the DNA of recruited participants.

“To find preventions and treatments for hEDS, we have to understand the cause,” Joel Hirschhorn, MD, PhD, Concordia professor of pediatrics, professor of genetics at the Boston Children’s Hospital/Harvard Medical School, and member of the Hypermobile Genetic Research Network, said in a news release. “Genetic studies like this one provide a path toward that goal.”

hEDS is the most common form of EDS, and is the only subtype among the 14 within the EDS disease group with no identified genetic markers.

“Understanding the genetic causes of hypermobile EDS is absolutely crucial to the EDS community,” said Clair Francomano, MD, chair of the Ehlers-Danlos Society’s medical and scientific board, and director of the Ehlers-Danlos Society Center for Clinical Care and Research at the Harvey Institute of Human Genetics.

“Understanding the genetic pathways leading to hypermobile EDS will inform the search for rational therapies for this disorder, and hopefully, eventually, a cure,” Francomano said.

Potential participants for the Hypermobile Ehlers-Danlos Syndrome Genetic Study must first join a global registry for EDS and related disorders, initiated by the Ehlers-Danlos Society in July 2018. The registry contains clinical information gathered from thousands of patients with EDS and related disorders, and allows the researchers to compare data among patients on a large scale.

A collaboration between the Ehlers-Danlos Society and a group of selected clinicians worldwide will enable the study to select participants with hEDS who have completed the global registry.

“If we are successful in identifying the underlying genes for hypermobile EDS, the opportunities for earlier diagnosis and more comprehensive treatment and care are virtually limitless,” said Lara Bloom, international executive director for the Ehlers-Danlos Society. “We are incredibly grateful to the generous donors who’ve made this possible.”

The first enrollments will take place in Madrid, Spain, in April, and in Nashville, Tennessee, in July, at the respective Learning Conferences organized by the Ehlers-Danlos Society.

More information about the Hypermobile EDS Genetic Research Study, and how to participate can be found here.