ESE and Endo-ERN launch an initiative to collect data on patients with rare endocrine conditions and COVID-19

Posted on

The ESE Rare Disease Committee, alongside Endo-ERN, have engaged in an initiative to collect data concerning specific groups of patients with rare endocrine conditions, who are also affected by COVID-19. We believe this is a global unmet need and requires swift, concerted and coordinated action.

The European Registries for Rare Endocrine Conditions (EuRRECa) project, supported by both Endo-ERN and ESE, has developed an e-reporting tool (e-REC) which has been fully operational for over a year within a robust governance and ethical framework and which does not require individual patient consent. The platform is now open to all [...]

Continue reading →

This entry was posted in General.

ECRD 2020 Online 14-15 May

Posted on

In the context of the current COVID-19 pandemic, the upcoming European Conference on Rare Diseases & Orphan Products (ECRD) will take place ONLINE on 14-15 May.

The ECRD is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

The ECRD 2020 theme “The rare disease patient journey in 2030” recognises that the next decade holds great potential for improvement and that while we cannot predict the future, we all have a role in preparing for it. See the

Continue reading →

This entry was posted in General.

New Endo-ERN manuscript accepted for publication in European Journal of Endocrinology

Posted on

We are proud to announce that the manuscript from Work Package 5 “Diagnostics & laboratory analysis” in collaboration with EU COST action, entitled “Peptide Hormone Analysis in Diagnosis and Treatment of Differences of Sex Development: Joint Position Paper of EU COST Action “DSDnet” and European Reference Network on Rare Endocrine Conditions” has been accepted for publication in European Journal of Endocrinology.

To view the publication, click here.

Continue reading →

This entry was posted in General.

EuRRECa Project Group Meeting Webinar

This event took place on March 9th, 2020

Following the necessary cancellation of the face-to-face meeting of the EuRRECa Project Group in Verbania, we are pleased to inform you that a Webinar is being arranged as an alternative on the same date.Monday 9 March 2020

The meeting will begin at 10:50 and finish at 13:10 (CET).

The PGB meeting which will be held after the Project Group meeting.

Continue reading →

Endo-ERN GA2020 Webinar

This event took place on March 10th, 2020

Following the necessary cancellation of the face-to-face meeting of the Endo-ERN General Assembly in Verbania, we are pleased to inform that a Webinar is being arranged as a concise alternative for the F2F meeting on the first of the two settled dates: Tuesday 10 march 2020.

We are currently working on the (shortened) definitive programme, which will be announced on Tuesday 3 March.
The meeting will consist of two parts: morning session: 11:00-13.00, and afternoon session: 14.00-15.30/16.00 (CET).

The Steering Committee & Advisory board meeting will be held prior to the General Assembly (9.30-10.30 CET).

Continue reading →

LUMC is actively involved in the international approach to rare diseases

Posted on

How can we help patients with a rare disease in the best possible way? On Tuesday, February 18, the European strategy on rare diseases was discussed during the Rare Disease Day Policy Event with members of the European Parliament in Brussels. The Leiden University Medical Center (LUMC) was represented by. LUMC professor prof. Alberto Pereira as invited speaker, and as coordinator of the European reference network on rare endocrine conditions (Endo-ERN) sharing his experiences and vision for the future.

A person is considered having a rare disease if his or her condition affects less than 1 in 2,000 [...]

Continue reading →

This entry was posted in General.

Endo-ERN webinar: Prophylactic thyroidectomy in Children with MEN2

This webinar took place on February 21st, 2020

On Friday February 21st at 15:30 – 16:30 CET an Endo-ERN webinar about “Prophylactic thyroidectomy in Children with MEN2” is organised.

Multiple Endocrine Neoplasia type 2 is an autosomal dominant inherited tumour syndrome which occurs in 1:200000 live birth and have an estimated prevalence of 1:30 000 to 1:40 000 individuals.

It is caused by mutation of RET protooncogene located on 10q11.2 which encodes a transmembrane receptor tyrosine kinase. RET mutations are also responsible for Hirschprung disease, urogenital abnormalities and other pathologies.All MEN2 patients develop medullary thyroid cancer, half of them pheochromocytoma and 10-20% Primary Hyperparathyroidism. RET mutations have [...]

Continue reading →