EJPRD’s Internal call for innovation project in clinical trials methodology

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/


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Endo-ERN webinar: Endocrine and bone management in Duchenne muscular dystrophy

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.

Webinar summary

WebinarEndocrine and bone management in Duchenne muscular dystrophy
DateJanuary 25th, 2021
Time14:30 – 15:30 hr
SpeakersJarod Wong
Justus Kuijer
RegistrationRegistration is closed

Launch of Exchange Programme for healthcare professionals in European Reference Networks

Knowledge sharing and stimulating collaboration between health care professionals in European Reference Networks (ERN). That is the aim of the Exchange Programme 2020-2022, funded by the European Commission. In the coming two years, three different rounds of exchanges will take place between professionals of HealthCare Providers that are member of an ERN. The first round of visits will start in March 2021.

The objective of the ERN Exchange Programme is to palliate disparities in specific knowledge or gaps in expertise by facilitating the arrival of high-level expertise in a considerable number of diseases to a big number of Healthcare Providers.

Ecorys Ltd will provide services to all European Reference Networks in the framework of the Exchange Programme of the European Commission.

More information on the Exchange Programme will follow soon.

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The ERICA Project: joining forces to integrate research and innovation capacity across all 24 European Reference Networks

The European Rare disease research Coordination and support Action (ERICA) Project received a positive evaluation for a H2020 grant of 2.3 million to establish a structural framework in support of the research activities of the ERNs.

ERICA will strengthen research and innovation capacity by integration of ERN research activities, outreach to European research infrastructures to synergistically increase impact and Innovation. This will result in safe, accessible and efficient access of therapies for the benefit of patients suffering from rare diseases and Conditions.

Rare diseases

Rare diseases are defined as diseases that affect not more than 1 person per 2000 in the European population. However, while individual rare diseases affect only a small percentage of the population, they collectively affect up to 30 million people in the EU.

A great deal of research into rare diseases is carried out at LUMC. The Ministry of Health, Welfare and Sport (VWS), has recognised 40 centres of expertise in the field of rare diseases.

European Reference Networks

In 2017, 24 European Reference Networks (ERNs) were established by the European Commission. The aim of these networks is to facilitate access to high-quality cross-border healthcare and to promote cooperation on healthcare for rare diseases between Member States.

The ERICA project builds on the strength of these individual ERNs by promoting inter-ERN research activities and by establishing close partnerships with existing European and international infrastructures and consortia involved in research and innovation in the field of rare diseases.

The ERICA Consortium consists of 29 partners, amongst which all 24 ERNs, EURORDIS, the EJP RD, Orphanet, Mapi Trust Research, and EATRIS. The ERICA Project is coordinated by Alberto Pereira (Endo-ERN coordinator, Leiden University Medical Center, The Netherlands).

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Endo-ERN webinar: Sex Development & Maturation

On Friday December 18th at 13:00 – 15:00 CET an Endo-ERN webinar is organised with multiple speakers within the main thematic group of “Sex Development & Maturation”



13:00 Introduction by the chairs Olaf Hiort, Luca Persani, Manuela Brosamle
& Arlene Smyth

13:10-13:20 Olaf Hiort, Lubeck, Germany
German DSD network and quality of care

13:20-13:40 Sasha Howard, Queen Mary University of London, UK
Genetics of delayed puberty: differential architecture of CDGP vs CHH

13:40-13:55 Martine Cools, University of Gent, Belgium
Management of GD in Europe: an update in pediatric care

13:55-14:10 Guy T’Sjoen, University of Gent, Belgium
Management of GD in Europe: an update in adult care

14:10-14:20 Message from ePAGs

14:20-14:40 Anders Juul, University of Copenhagen, Denmark
INSL3 an useful marker in DSD and hypogonadism?

14:40-15:00 Anna Nordenström, Karolinska, Stockholm, Sweden
Update on the Endo-ERN guideline on sex hormone replacement


Webinar summary

WebinarSex Development & Maturation
DateDecember 18th, 2020
Time13:00 – 15:00 hr
SpeakersOlaf Hiort
Luca Persani
Manuela Brösamle
Arlene Smyth
Sasha Howard
Martine Cools
Guy T'Sjoen
Anders Juul
Anna Nordenström
RegistrationRegistration is closed

Glasgow Webinar Series in Rare Conditions: Hypophosphatasia – Diagnosis and Management

Glasgow Webinar Series in Rare Conditions: Hypophosphatasia – Diagnosis and Management


Tuesday 8th December 17.00 -18.30 (GMT) 18.00-19.30 (CET)

17:00 Introduction – S. Faisal Ahmed, Glasgow

17:05 A case of infantile HPP – James Irvine, Glasgow

17:15 The aetiology and clinical presentation of HPP – Agnès Linglart, Paris

17:40 The management of HPP across the life span – Anya Rothenbuller, Paris

18:15 Q&A

18.30 Close

The Glasgow Webinar Series is supported by the Glasgow Children’s Hospital Charity and An unrestricted education grant from Alexion.

Webinar summary

WebinarHypophosphatasia – Diagnosis and Management
DateDecember 8th, 2020
Time18:00 – 19:30 hr
SpeakersFaisal Ahmed
James Irvine
Agnès Linglart
Anya Rothenbuller
OrganisationOffice for Rare Conditions Glasgow
WebsiteVisit webinar website
RegistrationRegistration is closed

Endo-ERN CPMS webinar: How to enrol a patient, start a panel and upload files to a panel

On Thursday December 3rd at 17:00 – 18:00 CET an Endo-ERN CMPS webinar about “How to enrol a patient, start a panel and upload files to a panel is organised”

During this webinar you will learn how to create a CPMS panel. We will show you how to enrol a patient, how to start a patient panel and how to upload files to your panel.
After the presentation our operational helpdesk members (Isabel Moenig and Danielle Steenvoorden) will be available to answer your questions during the live Q&A.

Webinar summary

WebinarHow to enrol a patient, start a panel and upload files to a panel
DateDecember 3rd, 2020
Time17:00 – 18:00 hr
SpeakersDanielle Steenvoorden
Isabel Moenig
RegistrationRegistration is closed
CPMS Clinical Patient Management System


The coordinators of the EU funded S4R project are organising an International Conference on Rare Diseases and COVID-19 where we have been invited to provide a speech on the ERNs and the COVID-19 pandemic on 13th of November at 14:00.

The conference will include virtual meetings with patients and professionals from around the world to know how COVID19 has impacted the community of people affected by rare diseases.

The conference is of free access but you would need to register.

Event summary

DateNovember 13th, 2020
Time14:00 hr
RegistrationRegistration is closed