The value of patient registers: Example of a register for a rare disease in a Northern European country Dr Isabelle Th

1. The value of patient registers:Example of a register for a rare disease in a Northern European countryDr Isabelle Thuret Rare Disease Center for Thalassemia France

2. Thalassemia is a rare disease in France 7 new TM cases each year and a total number of patients with a severe form of beta-thalassemia around 450 Beta-thalassemia patients living in France are mainly from South Europe and North Africa. Knowledge about life expectancy or other data reflecting the quality of care of patients with thalassemia living in France were until recently very limited.

3. The French plan for rare disease  In 2004, France has adopted a national plan for rare diseases with a specific budget. - The reference center for thalassemia was established in 2006, located in Marseille and Lyon Labeled reference centers for rare diseases were assigned several tasks: To ameliorate the global clinical care for patients by improving professional practices and establishing a clinical network throughout the country To collect epidemiological data - To increase communication between caretakers and patient advocacy groups. To promote research and innovation In this context, the reference center for Thalassemia has developed a national register to achieve several goals

4. The National Register for beta-thalassemia living patients with TM including patients who received HSC transplantation, TI and E-beta-thalassemia. Follow-up information is requested on the basis of 12-24 months. 437 patients were included from 2005 to 2009 303 TM and 125 TI, 9 not yet classified including 53 HbE/Thal (30 TI, 21 TM, 2?) 60 transplanted patients from 65 different pediatric or hematology departments. The majority of medical institutions treat only a few thalassemic patients (<5). 71% of patients were born in France (74% for TM)

5. Analysis, at a national level, of our past and current clinical practice