Medical & Scientific News

The specialty pharmaceutical company,  AytuBio Pharma, announced this week that it anticipates the PREVEnt trial will begin in late 2022 or early 2023. This study will be investigating the ability of enzastaurin to reduce the severe complications of vEDS. There are currently no FDA-approved therapies for vEDS.   Aytu BioPharma CEO Josh Disbrow writes the following:   “Aytu BioPharma remains committed
The specialty pharmaceutical company, Aytu BioPharma, Inc. (Nasdaq: AYTU), announced this week that the European Commission granted orphan designation to AR101 (enzastaurin), a PKCβ inhibitor, for the treatment of vascular Ehlers-Danlos syndrome (vEDS). ⁠ ⁠ This clearance will enable the company to commence its pivotal PREVEnt clinical trial in mid-2022 in patients across study sites
New research has been published that studied “Muscle Strength, Muscle Mass and Physical Impairment in Women with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.” The authors of the research, Marie Coussens, Bruno Lapauw, Thiberiu Banica, Inge De Wandele, Verity Pacey, Lies Rombaut, Fransiska Malfait, and Patrick Calders explain more about the study: “This research was
The Ehlers-Danlos Society is delighted to have provided funding as part of the Molecular Studies in hEDS and HSD $1 million grant for this research project titled, “Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD): destructuring the fibroblast secretome to define bioactive molecules and disease mechanisms, and in vivo translational studies”, with Professor Marina
The specialty pharmaceutical company, Aytu BioPharma, Inc. (Nasdaq: AYTU), announced this week that it has received U.S. Food and Drug Administration (FDA) clearance of its Investigational New Drug (IND) application for AR101/enzastaurin for vascular Ehlers-Danlos syndrome (vEDS).   This clearance will enable the company to commence its pivotal PREVEnt clinical trial in early 2022, investigating the ability of enzastaurin to reduce the severe
The pharmaceutical company, Acer Therapeutics Inc. (Nasdaq: ACER), focus on the acquisition, development, and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs, announcing this week that they are planning a pivotal clinical trial in patients with COL3A1+ vascular Ehlers-Danlos syndrome (vEDS) with the treatment EDSIVO™ (celiprolol). Vascular EDS is a
Specialty pharmaceutical company, Aytu BioPharma, announced this week that they will be conducting a pivotal clinical trial for the development of treatment for vascular Ehlers-Danlos syndrome (vEDS).  What is vascular Ehlers-Danlos syndrome?  VEDS is estimated to occur between 1 in 50,000 individuals to 1 in 200,000 and results from pathogenic variants in COL3A1, which is responsible for producing chains of
The EveryLife Foundation for Rare Diseases has published its findings on the economic burden of rare diseases in the USA. Through the advocacy work of our Community and Advocacy Director, Shani Weber, The Ehlers-Danlos Society was invited to share the Foundation’s survey questionnaire. Members of the EDS community in the USA contributed to the survey,
The Ehlers-Danlos Society is now welcoming applications for its second microgrant round and Basic Research Major Grants. Microgrants In early 2020 the applications opened for the Spring Microgrants program 2020. The Society was able to award a number of $5,000 microgrants to assist researchers undertaking research, surveys, and data analysis in the areas of Ehlers-Danlos
To break down geographical barriers in research participation and to adapt to limitations on travel, The Ehlers-Danlos Society is delighted to announce a new screening and enrollment process for the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE).  The exciting newly-established process will make it possible for individuals with hypermobile Ehlers-Danlos syndrome (hEDS) to enroll in the groundbreaking
The Ehlers-Danlos Society invites submission of scientific abstracts or clinical case reports related to comorbidities seen in the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) to the EDS ECHO SUMMIT being held virtually 2-3 October 2020. This scientific meeting will explore the most up to date knowledge of, and research into the association, causation,
Recognizing the hugely important roles nurses play in the care of patients with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD), The Ehlers-Danlos Society is excited to share with you the launch of a new EDS ECHO program specifically for nurses. We are equally delighted to announce this during May Awareness 2020 and in support
EDS ECHO is tackling several key issues facing patients with the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD): supporting clinicians in increasing their knowledge; helping clinicians network with each other to discuss care; increasing access to care by increasing the number experienced clinicians, and supporting community advocates in raising awareness of EDS and HSD.
The following notice is to bring you up to date on the interactions between Acer Therapeutics Inc. and the FDA to try to find a pathway to bring celiprolol to market in the US.  The following is from a summary of the actions and recommendations recently released by Acer.   Summary of statement On March 18, 2020,
The Ehlers-Danlos Society would like to give special thanks to members of our community who took part in the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study screenings in Watford, UK, and Ghent, Belgium in February! As we search for the genetic cause or causes of hypermobile EDS (hEDS) we have now enrolled 413 participants into the
The British Society for Rheumatology (BSR) published a statement this week, concluding that they are of the opinion that the ‘evidence base is insufficient to support the development of guidelines for hypermobility’.  We are disappointed that the BSR has made this decision. We are also disappointed that the BSR never invited The Ehlers-Danlos Society and
The Ehlers-Danlos Society is pleased to share with you our Research Grant program for 2020. We will announce each grant round over the course of the year but have summarised below the opening dates for your information. Further details will be provided with the online application process with each respective round.  We aspire to offer
There are currently 14 subtypes of Ehlers-Danlos syndromes (EDS). In 13 of these (i.e. all except the hypermobile subtype), the diagnosis is confirmed by the combination of clinical features, and the identification of a mutation in corresponding disease-genes. Among them, the current classification identifies 3 subtypes of EDS that are associated with mutations in the
In the summer of 2019 it was announced that there were changes to codes in the ICD-10 directory. We wanted to update our community with what that means going forward.  The ICD is owned by the World Health Organisation (WHO). The 5th edition of ICD-10 was published by the WHO in 2016. Many countries use
UPDATE: November 11, 2019 Last week a paper by Demmler et al. was published looking at patient records from healthcare service databases in Wales over 27 years up to 2017. The study reported that either the diagnosis Ehlers-Danlos syndrome (EDS) or Joint Hypermobility Syndrome (JHS) was found in the healthcare General Practice or Hospital records
The Ehlers-Danlos Society is delighted to launch the new vEDS ECHO: a program led by Dr. Sherene Shalhub dedicated to increasing awareness and education in all aspects of diagnosis and management of vascular Ehlers-Danlos syndrome (vEDS).  VEDS ECHO is a revolutionary program that seeks to support health professionals around the world in caring for patients
Last week the Hypermobile EDS Genetic Research Network met at the Annual Society of Human Genetics conference. A truly collaborative and international group, the HEDGE network, consisting of leading authorities in human genetic research, lead the innovative HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) research study.  By bringing together these medical experts and through building the HEDGE
The Ehlers-Danlos Society is delighted to have held its seventh screening this weekend, for the groundbreaking HEDGE (Hypermobile Ehlers-Danlos Genetic Evaluation) study, devoted to finding the underlying genetic markers for hypermobile EDS (hEDS). Of the subtypes of Ehlers-Danlos syndromes (EDS), only the hypermobile type does not yet have an identified genetic marker. It is also
INDIANAPOLIS, USA — The Ehlers-Danlos Society is pleased to announce the opening of The Ehlers-Danlos Society Center at IU Health, committed to advancing research, education, and patient care for those living with the Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and associated symptoms and conditions. A Center for Change The Ehlers-Danlos Society has donated $500,000
Response to British Society for Rheumatology “Guidance for Management of Symptomatic Hypermobility in Children and Young People – A Guide for Professionals managing Children and Young People with this condition” June 2019 In June 2019 the British Society for Rheumatology published an update of its 2013 document entitled “Guidance for Management of Symptomatic Hypermobility in
Bobby Jones Chiari & Syringomyelia Foundation and The Ehlers-Danlos Society to host “Diagnosis and Management of Syndromes of the Craniocervical Junction and Roundtable Discussion” at The Royal Society of Medicine, London, UK. The situation in the UK for those living with Chiari malformation and cervical instability has been extremely challenging, with delays in diagnosis, lack
Celiprolol and vEDS: facts, limitations and recommendations In the context of the recent press about celiprolol and the FDA announcement not to license Celiprolol in the US for use limited to treatment of people with vEDS, we thought that it was time to bring together the global vascular EDS community from within the consortium, to
The Ehlers-Danlos Society would like to say a big thank you to Professor Qasim Aziz and all of the team at The Wingate Institute who have helped us last weekend bring to London the HEDGE genetic study, devoted to finding the underlying genetic markers for hypermobile EDS (hEDS). “It’s so incredible being part of such
The online educational and mentoring program connects Ehlers-Danlos syndrome (EDS) experts with clinicians around the world to improve patient care and outcomes.
“This round of grant proposals featured some incredibly exciting and needed research studies and projects that have the potential to change and even save lives,” stated Lara Bloom. “We cannot thank our donors enough for allowing us the honor of supporting these critical projects.”
The Ehlers-Danlos Society is excited to announce the start of recruitment for participants in the Hypermobile Ehlers-Danlos Syndrome Genetic Research Study, devoted to finding the underlying genetic markers for hypermobile EDS (hEDS). Since the announcement of the extraordinary “Moonshot” donation in early 2018, which was then followed by a generous matching donation in early 2019,
Gift to support wide range of inquiry from bench-to-bedside, social, and psychological studies to behavioral research involving the Ehlers-Danlos syndromes, hypermobility spectrum disorders, related symptoms, and associated conditions—worldwide. BALTIMORE, MD — The Ehlers-Danlos Society has received a $200,000 gift from one of its generous benefactors to accelerate new research into the Ehlers-Danlos syndromes (EDS), hypermobility
EDS Comorbidity Coalition to create a global resource for practical guidance in the assessment and management of all types of Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), their related symptoms, and associated conditions. AUGUST 22, 2018, BALTIMORE, MD — Thanks to the generosity of a major donor, The EDS Comorbidity Coalition—a partnership established in 2016
AUGUST 9, 2018 – The Ehlers-Danlos Society funds research at all stages, scopes, and scales. Our microgrants provide funds to early-stage investigations primarily designed to provide evidence or “proof of concept” to encourage larger studies. We are pleased to announce our first group of successful applications that include research into aspects of chronic pain, dental
Summary by Dr. Rubina Aktar, PhD In the past 15 years, scientific advances have shown that bowel symptoms are very common in hypermobility related disorders, and in particular, hypermobile Ehlers-Danlos Syndrome (hEDS). This group of patients have a problem with the extracellular matrix (ECM), which is the scaffold that supports joints and organs. Patients with
A new, autosomal recessive type of Ehlers-Danlos syndrome has been discovered; it is very rare, so far found in only four individuals from three unrelated families. Exome sequencing (which looks at a subset of DNA—the genes that are responsible for proteins—and describes how those genes are assembled) revealed unusual variations in the AEBP1 gene. These
APRIL 4, 2018, BALTIMORE, MD USA — As part of its ongoing efforts to improve diagnostic and treatment outcomes for people living with the Ehlers-Danlos syndromes throughout the world, The International Consortium on the Ehlers-Danlos Syndromes and Related Disorders has significantly expanded the scope of its collaborative research endeavors by: Establishing new working groups for
We are very pleased to report that following an effort led by Dr. Brad Tinkle with support from pharma companies and the International Consortium on Ehlers-Danlos syndromes and Related Disorders, a proposed change to the ICD-10 diagnosis codes was presented at the recent committee meeting. It will go for public opinion then be voted on
The International Consortium on Ehlers-Danlos Syndromes and Related Disorders was created following the 2017 diagnostic criteria and management and care guidelines. The Consortium is an independent group of medical professionals and patient experts committed to progress, research, and collaboration in the field, to work on the many challenges and research questions faced by families, clinicians,
The Ehlers-Danlos Society has assisted Genomics England with the EDS gene panel for the 100,000 Genomes Project. The EDS panel has been reviewed by members of the International Consortium for Ehlers-Danlos syndromes and related disorders. The Society were contacted by the team working on the 100,000 Genomes project following the work surrounding the new diagnostic
Abstract Background: Generalised Joint Hypermobility (GJH) is a hereditary condition with an ability to exceed the joints beyond the normal range. The prevalence of GJH in the adult population and its impact on upper body musculoskeletal health and quality of life has mostly been studied in selected populations. The aims of this study were therefore,
Beyond Diagnosis: A Case Study on Healing Time is a recent paper just added to our “EDS Medical Articles” section ( This study reflects about how, along one year, a Pediatric Care Team managed the case of a 16 years old girl (motor-limited since she was 15 months) who had been diagnosed a rare disease (Ehlers-Danlos
The full text of, “Pain Management in Patients With Hypermobility Disorders: Frequently Missed Causes of Chronic Pain” by Dr. Linda Stapleford Bluestein will be available for free from Topics in Pain Management until August 19th. Dr. Bluestein, an Assistant Professor at Medical College of Wisconsin–Central Wisconsin, has developed this CME/CNE activity to help educate medical providers
Masterclass: Advancing Practice in Hypermobility The masterclass includes presentations and workshops led by a team of national and internationally recognised specialists and researchers, including members of the International Consortium. Medical, health and exercise professionals who wish to gain further knowledge and advance their clinical practice in assessing and management of children and adults with hypermobility
Published by BioMed Research International, 2/12/2017 Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional
It’s as if a switch has been flicked. Evidence is mounting that chronic fatigue syndrome (CFS) is caused by the body swapping to less efficient ways of generating energy. Also known as ME or myalgic encephalomyelitis, CFS affects some 250,000 people in the UK. The main symptom is persistent physical and mental exhaustion that doesn’t
Alan Hakim and his colleagues at University College Hospital in London were some of the first scientists to bring these cases to light. Hakim was helping to run a clinic for people with Ehlers-Danlos Syndrome (EDS), a group of very rare genetic diseases characterised by defects in connective tissue, leading to joint hypermobility, skin that
Company obtains exclusive rights to NDA-enabling clinical data of the company’s lead product, VASEBRA™ (celiprolol), for the treatment of vascular Ehlers-Danlos Syndrome (vEDS) CAMBRIDGE, Mass.–(BUSINESS WIRE)–Acer Therapeutics Inc., a pharmaceutical company developing therapies for serious rare diseases with significant unmet medical need, today announced the signing of an agreement with the Greater Paris University Hospitals
This work is being carried out on behalf of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions. The aim of the UK Strategy for Rare Diseases is to ‘ensure no one gets left behind just because they have a rare disease’. The UK Strategy for Rare Diseases presents a landmark for
20 years from now it is expected that many new cures and treatments will be delivered either as a consequence of research using genome editing or, directly, via genome editing derived treatments. Patients affected by rare and genetic conditions are likely to benefit from these techniques. It is important that these patients, and the wider
Rare Disease UK is gathering information to examine the implementation of the UK Strategy for Rare Diseases in England. This work is being carried out on behalf of the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions. The aim of the UK Strategy for Rare Diseases is to ‘ensure no one gets
On a good day, my shoulders, knees, and hips will dislocate two to five times apiece. The slightest bump into a table or door will bloom new bruises on my arms and legs or tear a gash in the thin skin on my hands. My blood pressure will plummet each time I stand, making me
Ehlers–Danlos syndrome (EDS)—hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain.
Although first described in 1892 by Tschernogobow in Moscow, the medical history of Ehlers-Danlos syndrome (EDS) begins with Edward Ehlers’s description in 1900 in Copenhagen. Several avatars would come to stymie its identification to this day, despite its frequency, and foster confusion with other pathologies. The first of these is the description by Alexandre Danlos
Ehlers-Danlos syndrome is heterogeneous in its genetic origins, molecular defects, and ultrastructure of connective tissues (CT). It frequently represents underdiagnosed heritable conditions. The altered mechanical functions of the involved tissues lead to variable combinations of increased skin distensibility and elasticity, joint laxity and CT fragility. In addition, EDS women commonly suffer from some gynecologic and
Opioids are a class of powerful pain-relieving drugs that work by activating opioid receptors on nerve cells in the body and brain. These pain relievers are generally safe when taken for a short time and as prescribed by a doctor, but are frequently misused because they also produce euphoria. When misused or abused, opioid pain
A very small, yet enlightening medical commentary about Postural Orthostatic Tachycardia syndrome (POTS) has recently popped up. POTS is often -erroneously- put down to the result of deconditioning – i.e, not doing enough exercise. It’s one of the things that people with the condition (including me) find most upsetting, the thought – sometimes spoken, more
An interesting kickstarter campaign that could help our community with our diet… We know that in the EDS community there seems to be a higher incidence of IBS related symptoms. One test that is commonly used in GI clinics is a hydrogen breath test to determine if you would benefit from the FODMAP diet. Could
As the nation begins responding to the epidemic of overdoses and deaths caused by opioids, some people with chronic pain who have relied on these powerful painkillers for years are finding them harder to get. A survey conducted by the Boston Globe and Inspire, a health care social network of 200 online support groups with
Ehlers-Danlos syndrome (EDS) is the name applied to a rather large group of inherited disorders that affect the connective tissue, the tissue that provides support to many parts of the body. This genetic disorder is present in at least 1/5000 individuals [1] and an important cause of joint hypermobility syndrome [2]. The disease is characterized
The role of physical trauma in the onset of symptoms in Ehlers-Danlos syndrome (EDS) has never been characterized. We sought to search and describe brain lesions EDS patients also having personal history of physical trauma.… Patients with EDS, hypermobility type, were found to have consistent and specific brain lesions involving white matter tracts. Moreover, the
Of all live births with congenital anomalies, approximately one-third exhibit deformities of the head and face. Most craniofacial disorders are associated with defects in a migratory stem and progenitor cell population, which is designated the neural crest (NC). Musculocontractural Ehlers-Danlos syndrome (MCEDS) is a heritable connective tissue disorder with distinct craniofacial features. … We conclude
ABSTRACT: This article describes the pathophysiology, clinical presentation, differential diagnosis, diagnosis, and management of postural orthostatic tachycardia syndrome (POTS), a potentially debilitating autonomic disorder that can have many causes and presentations. POTS can be mistaken for panic disorder, inappropriate sinus tachycardia, and chronic fatigue syndrome. Clinician suspicion for the syndrome is key to prompt patient