Read the February-March edition of the Endo-ERN newsletter now! It features a report on our third annual General Assembly, the first EndoRARE webinar, past meetings, and upcoming meetings! Продължаване на четенето на
On Tuesday March 2nd at 17:00 – 18:00 CET an Endo-ERN webinar about “Molecular diagnostic testing of imprinting disorders and related growth disturbances” is organised. The Endo-ERN webinar will be held by Prof Thomas Eggermann from University Hospital Aachen, Germany.
Molecular diagnostic testing imprinting disorders and related growth disorders is challenging due to the broad spectrum of molecular defects. Additionally, the decision on the molecular testing algorithm is hindered by the clinical heterogeneity of these entities. However, the precise identification of the nature of the defect is often a prerequisite for the clinical management and genetic counselling. With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited growth disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex.
In this webinar, the different types of molecular alterations in patients with imprinting disorders and differential diagnosis will be reviewed, and genetic testing strategies will be explained. Based on own data it will be illustrated that comprehensive testing strategies have to be applied in diagnostic testing of congenital disorders.
The early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate.
Резюме на Webinar
|Webinar||Molecular diagnostic testing of imprinting disorders and related growth disturbances|
|Дата||март 2nd, 2021|
|Time||17:00 – 18:00 hr|
Read more about upcoming Endo-ERN webinars, Special supplemental issue on Rare Endocrine Conditions, EJP RD Research Training Workshops for ERN members and much more.
The WorldMEN meeting has something different compared to all the other classical meetings: it was first created to allow for intense discussions about the discovery of the genetic etiologies of tumor syndrome in 1984. Over the last years, the WorldMEN meetings expanded the scope of their participants to a wide audience of endocrinologists, surgeons, gastroenterologists, oncologists, geneticists and more, all concerned by the diagnosis and management not only of multiple endocrine neoplasia, endocrine tumor syndromes and the various diseases they include (Von Hippel Lindau disease, pheochromocytoma and paraganglioma, pituitary tumors, neuroendocrine tumors, neurofibromatosis, calcium disorders…), but also endocrine cancers in general. Still more than an update on these conditions with the world renown specialists who are at the cutting edge of research, the aim of this meeting is to allow for fruitful scientific discussions around multicentric studies and collaborative projects.
Accordingly, this 17th WorldMEN meeting was organized by inviting experts from all over the world to give you the most updated data on endocrine tumor syndromes during workshops that will leave a large time for discussions, or plenaries on genetics, diagnosis, consequences or treatments of such syndromes. Together with the input of the organizers of previous WorldMEN meetings, we have the support of both national (French Endocrine Society SFE, and the Endocrine Tumor Group GTE) and European Societies (European Neuroendocrine Association ENEA). Last but not least, new international guidelines on pheochromocytoma will be discussed, and updates on MEN1 guidelines will also be presented for the first time.
On Thursday January 28th at 17:00 – 17:30 CET an Endo-ERN CPMS webinar about “How to invite members to your panel, schedule a video meeting and join a video meeting“ is organised.
Danielle Steenvoorden from the Operational Helpdesk will give you an overview of the following steps after opening a patient panel within CPMS: how invite members and schedule and join a video meeting. At the end of this webinar there will be a live Q&A for all your questions.
This is the second part of a series of webinars about CPMS.
The first webinar “CPMS: how to enroll a patient and start a panel” can be found on our website or live followed on the next planned date.
Резюме на Webinar
|Webinar||How to invite members to your panel, schedule a video meeting and join a video meeting|
|Дата||януари 28th, 2021|
|Time||17:00 – 17:30 hr|
|CPMS||Clinical Patient Management System|
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.
Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
In September 2020 the EJP RD launched its second call of the “European Reference Networks (ERNs) Training and support program” as part of the ‘Training and Empowerment’ activities that aim to fill the gap in education on rare diseases research.
The “Research Training Workshop” call is aimed at identifying workshop topics to train ERN researchers and clinicians in relevant innovative themes with a cross-ERN added value. Selected applicants will receive financial support for the organization of a 2-days workshop for 20 participants.
Training themes include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Topics have been proposed by the ERNs or by investigators belonging to EJP RD beneficiary institutions.
The second round of submission and evaluation have been finalized in December 2020 and was coordinated by Alberto Pereira. As a result, four workshops were recommended for funding (listed below). The workshops will take place in the upcoming months.
- The 8th international conference on Ectodermal dysplasias (Smail Hadj-Rabia, INSERM, Dept of Dermatology, Paris, France)
- Trans-ERN Working Group for Spina Bifida Training: Workshop for future research on innovative diagnostic and interdisciplinary treatment (Giovanni Mosiello, Bambino Gesù Pediatric and Research Hospital, Rome, Italy)
- ERN multidisciplinary research workshop on diagnostics and treatment of high grade endometrial cancer (Cor de Kroon, LUMC, Dept of Gynaecology, Leiden, the Netherlands)
- Endocrine cancer – a challenge in adults and children (Barbara Jarzab, M. Sklodowska-Curie National Research Institute of Oncology, Gliwice, Poland)
The information on their launch and more details will be provided and updated on the EJP RD website.
In the context of the EJP RD internal call for innovation projects in clinical trials methodologies in limited populations, that opened on 7th of December 2020 and will close on 3rd of March 2021, an “Information/Networking Event” will be organized on the 25th of January 2021. The meeting will take place online from 15:00 to 18:30.
All interested applicants are invited to participate in this event. The objectives of the meeting are as follows:
- Presentation of the call modalities and objectives followed by Q&A session with participants
- Presentation of various perspectives of the remaining challenges that the present call will target (for example in relation to: use of registries, innovation in methodology space, PCOMS, pharmacogenetic biomarkers and pharmacokinetics development, the vision of regulators on future of RD clinical trials, model for innovating therapy in ultra RDs, ethical guidance)
- Open session for participants to discuss the gaps that they would like to tackle and initiate partnerships among interested parties.
The registration to the meeting is mandatory and will close on the 18 of January 2021.
Резюме на Event
|Event||EJPRD internal call for innovation projects in clinical trials methodologies information/network meeting|
|Дата||януари 25th, 2021|
|Time||15:00 – 18:30 hr|
|Уебсайт||Посетете уебсайта на event|
The Internal Call for Innovation Project in Clinical Trials Methodology in Limited Populations has been launched on December 7, 2020. The call is open to EJP RD beneficiaries and their linked third parties.
The innovation methodologies topics particularly include (but are not limited to):
· Development of a disease progression model from a natural history cohort or other observational studies.
· Development and validation of a disease specific clinically meaningful outcome with special interest in PCOMs, or composite endpoints.
· Development of a design and analysis procedure for a pharmacometric model and/or bridging study.
· Development of a randomization-based model as an alternative analysis strategy and explore the level of evidence.
The call aims to encourage collaborations among groups of experts consisting of different stakeholders including methodological experts, clinicians, patients and industry (when relevant) who will jointly develop innovative ready-to-use methods to enhance RD clinical trial methodologies.
• 11 January 2021: A networking meeting will be held to consolidate the collaborative networks.
• 3 March 2021: Foreseen call closing deadline
To get more information click here: https://www.ejprarediseases.org/index.php/ongoing-calls/innovation-project/
In this webinar, Dr. Jarod Wong from the University of Glasgow will review the endocrine and bone morbidity in DMD with focus on the updated international care recommendations and discuss areas for future research which includes management of endocrine and bone in adults with DMD. He will be joined by Justus Kuijer who will share his experience of endocrine and bone morbidity.
Duchenne muscular dystrophy (DMD) is a rare X-linked inherited neuromuscular condition affecting 1 in 4000 boys. Most are diagnosed in early childhood, and it is characterised by progressive muscle wasting. To date, there is no curative therapy, and untreated boys usually loose ambulation between 10-11 years. Oral glucocorticoid (GC) has been shown to slow the muscle wasting prolonging age at loss of ambulation by about 2-3 years. Treatment is also beneficial for respiratory, cardiac status and upper limb function, and is continued indefinitely. Therefore, current standards of care of management of DMD is a model of chronic GC excess, leading to significant endocrine and bone morbidity with impact on the quality of life of these young people. Recent international recommendations of standards of care in DMD (2018) have consolidated endocrine monitoring and management in these boys.
Osteoporosis leading to fragility fractures is observed in about 50-75% of GC treated boys with DMD. Vertebral fracture presenting with back pain is present in about 10%. With the use of routine spine imaging, vertebral fracture is seen in at least about 40% of these boys. Short stature not related to endocrine dysfunction is observed in about 25% of young boys with DMD prior to the introduction of GC: the aetiology of the short stature is still unclear. Delayed puberty due to central hypogonadism is extremely common and contributes further insult to the skeleton. Secondary adrenal insufficiency from the use of long-term GC is an issue that may often not be addressed in detailed and has been a cause for concern at the start of the COVID19 pandemic. Emerging data also suggests that endocrine and bone morbidity may differ depending on GC regimen. Boys on daily GC are shorter, more overweight and have higher risk of fractures including vertebral fractures. However, boys on intermittent GC may have poorer skeletal muscle outcome. Published data also suggests that short stature and bone morbidity may be commoner in those treated with Deflazacort whereas weight gain appears commoner in those treated with Prednisolone.
Резюме на Webinar
|Webinar||Endocrine and bone management in Duchenne muscular dystrophy|
|Дата||януари 25th, 2021|
|Time||14:30 – 15:30 hr|
|Speakers||Jarod Wong |