RareDiseaseDay logo B

28 February 2018 marks the 11th edition of Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness about rare diseases and their impact on patients' lives. This year’s theme is research, recognizing patient and public involvement in rare disease research progress. Cures and treatments exist for a few conditions but are distant hope for most. This year’s Rare Anaemia Day is celebrated to promote an increased and more effective patient involvement in rare disease research. On and around this day, rare disease patient communities from countries and regions all over the world will hold awareness-raising activities based on the slogan Show your rare, Show you care, encouraging everyone’s participation by posting an image or selfie on any social media channel of their faces painted in the Rare Disease Day logo colours and including the hashtags #ShowYourRare, #MyRare or #RareDiseaseDay. 

 

More information: Rare Disease Day 2018; The 2018 Rare Disease Day Video

 

radeep

The Rare Anaemia Disorders European Epidemiological Platform (RADeep) is an integrated platform connecting databases and patient registries for rare hematological conditions across Europe. It was conceived and put under development by EuroBloodNet, the European Reference Network (ERN) on Rare Hematological Diseases, to foster European cooperation for epidemiological surveillance, improve access to specialized and adequate health care, and facilitate research and development of new treatments, thus increasing the knowledge and promoting best practices for these rare diseases at the EU level.

RADeep is being implemented in different phases through disease-specific arms. For each disease-specific arm, a scientific committee will be established including experts on the prevention, diagnosis and clinical care of the disease, researchers, and national coordinators for data gathering.

The disease-specific arms of RADeep include:

  1. PKDeep (1st phase of implementation on pyruvate kinase deficiency),
  2. Sickle cell disease,
  3. Thalassaemia,
  4. Congenitaldyserythropoieticanaemias (CDA),
  5. Hereditary erythropoietic failure or aplasia: Diamond Blackfan anaemia (DBA) and Fanconi Anaemia (FA),
  6. Membrane disorders and other enzymopathies,
  7. Hereditary sideroblastic anaemias, and
  8. Hereditary non-sideroblastic anaemias due to iron defects.

 

More information: RADeep Official Site

 

GG2020 logo

Τhe HVP Global Globin 2020 Challenge is organising a fringe meeting at the 14th International Conference on Thalassaemia and Other Haemoglobinopathies. The meeting, entitled "Towards Comprehensive Global Epidemiology and Prevention of Haemoglobinopathies", will be held on 19th November 2017 at the Grand Hotel Palace – Ilida Meeting Room, Thessaloniki, Greece, between 14:00 and 16:30. 

The GG2020 Challenge  seeks to apply recent developments in human genomics, including the systematic collection and sharing of variation data, to fighting haemoglobinopathies (notably thalassaemias and sickle cell disease) in low- and middle-income countries. The GG2020 meeting, a great opportunity to forge new collaborations, will highlight the main goals and partnerships (including with WHO and UNESCO) of the Challenge and will provide an update on past achievements, ongoing projects and future plans. 

More information: Programme

 

La Jolla

La Jolla Pharmaceutical Company has initiated a phase II clinical study of LJPC-401 in patients with transfusion-dependent beta thalassaemia [ClinicalTrials.gov Identifier: NCT03381833]. LJPC-401 is La Jolla’s proprietary formulation of synthetic human hepcidin, the body’s naturally occurring regulator of iron absorption and distribution. In healthy individuals, hepcidin prevents excessive iron accumulation in the heart and other vital organs, where it can cause potentially fatal complications. La Jolla is developing LJPC-401 for the potential treatment of iron overload, with promising results reported in preclinical and phase I clinical studies. The phase II clinical study is a multinational, multicentre, randomized, controlled study designed to involve 100 patients from 40 sites across 9 countries. The primary outcome measure in this study is the effect of LJPC-401 on myocardial iron overload in patients receiving chelation therapy. Secondary outcome measures include the effect of LJPC-401 on blood iron levels, on hematology laboratory parameters, and on iron laboratory parameters.

The first clinical trial site for the phase II study of LJPC-401 has now opened in San Diego, CA. Additional trial sites will open in the U.S. in the near future.

Eligibility criteria include:

  1. 18 years of age or older with transfusion-dependent beta thalassemia.
  2. Increased iron blood levels as measured by transferrin saturation (TSAT).
  3. Increased iron levels in the heart as measured by MRI.
  4. Received iron chelation therapy for a minimum of 1 year and be on a stable dose prior to enrollment in the study.

 

More information: La Jolla announcementCAF NewsLJPC , Clinical trial

 

ITHANET logo trans300bioRxiv logo

 

We are pleased to inform you that a preprint describing all sections of the ITHANET portal is now available online on bioRxiv (doi: https://doi.org/10.1101/209361). This is the first article resulting from our partnership with the HVP Global Globin 2020 Challenge. Most importantly, we would like to thank everyone who supported the ITHANET portal, contributed data and provided suggestions for its improvement. 

Abstract

Haemoglobinopathies are the commonest monogenic diseases, with millions of carriers and patients worldwide. Online resources for haemoglobinopathies are largely divided into specialised sites catering for patients, researchers and clinicians separately. However, the severity, ubiquity and surprising genetic complexity of the haemoglobinopathies call for an integrated website to serve as a free and comprehensive repository and tool for patients, scientists and health professionals alike. This paper presents the ITHANET community portal, an expanding resource for clinicians and researchers dealing with haemoglobinopathies. It integrates information on news, events, publications, clinical trials and haemoglobinopathy-related organisations and experts and, most importantly, databases of variations, epidemiology and diagnostic and clinical data. Specifically, ITHANET provides annotation for 2690 haemoglobinopathy-related variations, epidemiological data for more than 180 countries and information for more than 600 HPLC diagnostic reports. The ITHANET portal accepts and incorporates contributions to its content by local experts from any country in the world and is freely available for the public at http://www.ithanet.eu.