Research project offers hope for pediatric patients with thalassemia

Jun 1 2018

Children born with thalassemia, a genetic blood disease, cannot create normal hemoglobin, which is needed to produce healthy red blood cells. Regular blood transfusions are the only treatment available, but iron overload is inevitable.

Since iron accumulation can cause potentially fatal multi-organ dysfunction, transfusion therapy is coupled with iron chelation – the removal of excess iron from the blood via special drugs. Deferiprone (DFP) – authorized in Europe in 1999 – is considered very effective, but it has remained second in line and in fact discouraged for treating children under the age of six due to a scarcity of studies involving pediatric patients.

297 patients, 16 hospitals, 6 countries

This is where the independent consortium DEEP (Deferiprone Evaluation in Paediatrics) stepped in. Born from the TEDDY Network – an EU-funded Network of Excellence, the DEEP project has already provided evidence confirming the safe dosage for use without risk in children (DEEP-1 clinical trial results). It also led to the development of a new oral liquid formulation of DFP suitable for the pediatric use (including in babies from the first month), to be administered in that dose. The complete panel of the drug activities, efficacy and safety will be available soon (DEEP-2 clinical trial).

The DEEP Project also investigated the long-term safety of DFP therapy in children suffering from beta-thalassemia major, which unfortunately requires lifelong treatment (DEEP-3 observational study). DEEP 3 was a cohort study conducted in 16 hospitals in six Mediterranean countries (Albania, Cyprus, Egypt, Greece, Italy and Tunisia) between November 2012 and April 2016. A total of 297 patients were enrolled and observed.

‘Remarkable’

For Amal El-Beshlawy, chair of the Egyptian Thalassemia Association, the project’s findings are “remarkable”.

The Egyptian member of the DEEP consortium, El-Beshlawy is quick to note the project’s importance – especially for her country. “Thalassemia is a major health concern in Egypt,” she says. “The prevalence of disease carriers is nearly 9%, one of the highest rates worldwide. For every 1.5m children born in Egypt annually, almost 1 000 carry the disease.”

El-Beshlawy has been working hard to shed light on this disease, and is pleased that Egypt has been at the forefront of efforts to find the best treatment for children.

“The DEEP project…is crucial for the life of young patients with thalassemia. Iron overload can kill. The treatment is lifesaving.”

Such far-reaching international cooperation, involving so many countries from Europe and North Africa, is unrivaled, says El-Beshlawy. “It has been a real success because treating this disease is very important in all these countries. It has been a great experience and a big advantage to be part of this global cooperation.’

According to El-Beshlawy, the project’s impact will be huge for patients in Egypt and other countries struggling with a particularly high prevalence of thalassemia. “Many lives will be saved.”