Beta thalassemia intermedia syndromes are genetic anemias caused by mutations which reduce production of beta globin, a major component of adult hemoglobin A, the protein which delivers oxygen throughout the body. Patients suffer from poor growth, fatigue, heart failure, endocrine deficiencies, and eventually, many require chronic blood transfusions. There is no approved therapeutic for the deficiency of beta globin chains in beta thalassemia.

 

This trial will study an oral therapeutic which stimulates production of fetal globin, an alternate type which is produced by all humans, but is normally switched off in infancy. This type of globin can compensate for the missing protein in beta thalassemia.

 

More Information: clinicaltrials.gov

memorial sloan kettering cancer center

Memorial Sloan-Kettering Cancer Center will begin evaluating a new stem-cell-based gene therapy for patients with the inherited blood disorder β-thalassemia. The clinical trial is the first to receive US Food and Drug Administration approval to treat this disease with genetically engineered cells and is a culmination of more than two decades of research led by Memorial Sloan-Kettering investigators.

 

This study is being done to see if the investigators can make the stem cells produce normal red blood cells and hemoglobin. The investigators do this by collecting the stem cells. The genes with mistakes are removed from the cells. These cells are then treated so they have the corrected gene for making normal hemoglobin. These treated cells are given back to the patient through an injection (shot) in the vein. This is also known as gene transfer. In order for the body to accept these cells, the patient will need to receive a low dose of a drug called busulfan. It is a drug that will prepare the body to receive the new stem cells.

 

This study will let the investigators know:

  • If it is safe to give the patient the treated stem cells
  • If the treated stem cells will go into the bone marrow without causing side effects.

 

More Information: clinicaltrials.gov, Cooley's Anemia Foundation

RareDiseaseDay2012

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level. February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries. On this day hundreds of patient organisations from more than 40 countries worldwide are organsing awareness-raising activities converging around the slogan “Rare but strong together”.  

 

Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! Get involved! The focus of this year's event is Solidarity.

 

More information: Rare Disease Day 2012

emqn

The EMQN, in conjunction with EuroGentest, is organising a Best Practice meeting to update the 2002 EMQN Best Practice Guidelines for Haemoglobinopathy Testing. The workshop will take place in Leiden, The Netherlands, on 5-6th September 2012.

map

The Malaria Atlas Project (MAP) is a non-profit project which brings together researchers based around the world with expertise in a wide range of disciplines from public health to mathematics, geography and epidemiology. MAP aims to generate new and innovative methods of mapping malaria risk and to produce a comprehensive range of maps and estimates that will support effective planning of malaria control at national and international scales.

The MAP team have assembled a unique spatial database on linked information based on medical intelligence, satellite-derived climate data to constrain the limits of malaria transmission and the largest ever archive of community-based estimates of parasite prevalence. These data have been assembled and analysed by a team of geographers, statisticians, epidemiologists, biologists and public health specialists.

More information: The Malaria Atlas Project