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Cryo-Save Facilitates the First Transplantation in Spain to Treat Blackfan-Diamond Anaemia Thanks to the Cost-Free Donation Program


News provided by

Cryo-Save Group N.V.

29 Apr, 2013, 09:00 GMT

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ZURICH, April 29, 2013 /PRNewswire/ --

At no charge whatsoever to the family, this Cryo-Save program has made it possible to treat this congenital anaemia, classified as a rare disease, using cord blood stem cells.

A 4-year-old boy was treated for Blackfan-Diamond anaemia (BDA) with a stem cell transplant from his sister's umbilical cord blood. The transplant was performed on April 25 at the Hospital del Niño Jesús in Madrid, one of the most important paediatric hospitals in Spain. It is the first transplant performed in this country to treat BDA with a cryo-preserved sample from a family bank, in this case, the leading Family Stem Cell Bank in Spain, Crio-Cord, a subsidiary of the Cryo-Save Group. This treatment was provided thanks to the Cryo-Save Cost Free Donation Program, which provides free storage of the umbilical cord blood and cord tissue stem cells for families who have a family member diagnosed with a disease treatable with stem cells.

The transplantation was successful, and the child is expected to make a normal recovery. This pioneering treatment in Spain may herald a radical improvement in the child's quality of life, as since birth he has required regular red blood cell transfusions. "Up until the transplantation our life was bound to these transfusions. We could hardly be happier, because now our son will be able to lead a completely normal life", said Elena, the boy's mother. The parents had only found out about the possibility of this type of treatment when Elena was pregnant with her daughter, now the cord blood donor. They did not hesitate for an instant. "We had the opportunity to heal our son, if the sample was compatible, and we could not forego it", she said. "Our daughter will be very happy when she learns that her brother got better thanks to her", she added.

"Blackfan-Diamond anaemia is a congenital disease that prevents the bone marrow from producing the red blood cells needed to carry oxygen throughout the body," explained Dr. Luis Madero, Head of the Oncohaematology Department of the Hospital Niño Jesús in Madrid, and the physician who performed the transplantation. Until recently, the main treatments were periodical red blood cell transfusions, which clearly affects the patient's quality of life, and long-term corticosteroid therapy, which is not tolerated in all cases.

"The transplantation of umbilical cord blood stem cells, especially between siblings, is now a recommended treatment option for certain types of haematological diseases, such as this anaemia. The benefits versus other treatments for this disease are clear", asserted Dr. Madero. This is confirmed by some studies[i],[ii].

Cost Free Donation Program

As soon as they were informed by the family bank that there was a possibility of treatment, the child's family opted into the Crio-Cord "Cost-Free Donation" program. "Crio-Cord told us about the existence of this programme when we called to enquire about the storage of our daughter's umbilical cord blood. As we met the requirements, we initiated the different procedures and, once we were accepted on the program, we got the great news that our children were compatible," said Elena. "Moreover, thanks to the programme we confirmed the diagnosis of the disease, which was not clear up until then," she added. All the tests performed on the patient and his sister, were coordinated by Dr. Luis Madero.

The Cost-Free Donation Program also covers the whole process required for the transplant to take place: the analyses required on the sample to guarantee that it is compatible with the patient to be treated, the coordination of the treatment and the transportation of the sample from the Cryo-Save Group's Storage Facility in Belgium, to the hospital where the treatment will take place, all free of charge within the European Union.

To qualify for the Program, a family member must have been diagnosed with a disease that is currently treatable with stem cells. They must be a first degree relative to the newborn child whose stem cells will be collected and have the opinion of an oncologist or haematologist recommending stem cell treatment. If participation in the Program is approved, the family will receive the collection kit. At he time of the birth, the sample will be collected, processed and stored until it is needed, totally free of charge.

"We are very proud and pleased to have contributed to alleviating this family's suffering. Cryo-Save wants to demonstrate its commitment to the development and welfare of society, not only through collaborative programs with researchers and universities, but also by directly supporting families in need, through this program," said Arnoud van Tulder, Cryo-Save's CEO.

Blackfan-Diamond Anaemia

The annual incidence of BDA in the European general population is approximately 1/150,000. This rare disease, which affects both sexes equally, is usually detected in the first two years of life. The main symptoms are pallor and dyspnoea, especially during feeding or breastfeeding.

Half of all patients with BDA are short and have congenital anomalies, the most frequent ones being craniofacial, genitourinary and thumb anomalies. BDA patients have a high risk of getting leukaemia and cancer. BDA is inherited in an autosomal dominant pattern with variable penetrance. Currently, the mutations that cause the disease have been identified in 40%-45% of patients.

Diagnosis can be confirmed by family history, associated malformations and elevated levels of adenosine deaminase (ADA) in erythrocytes. In familial cases, the risk of recurrence is 50%. In all cases careful ultrasound monitoring is advisable during pregnancy, as a pregnancy where the baby is affected by BDA is regarded as high-risk pregnancy for mother and child. Disease severity depends on the quality of care received and the response to treatment.

About Cryo-Save

Cryo-Save, the leading Stem Cell Family Bank, holds more than 225,000 blood and umbilical cord tissue samples. Since the first successful cord blood transplant in 1988, cord blood has been successful in the treatment of more than 70 life-threatening diseases including leukemia, lymphoma, sickle cell anemia, aplastic anemia and other blood related disorders. Transplants with umbilical cord stem cells are recognized as an alternative to bone marrow transplantation, and to date more than 25,000 umbilical cord stem cell transplantations have been performed worldwide utilizing these stem cells for unrelated recipients, family members and in some cases for the patient themselves. Cryo-Save has cryopreserved samples from more than 70 countries on six continents, with state-of-the-art processing and storage facilities in Belgium, Germany, Dubai, India and South Africa. http://www.cryo-save.com/group  

i. Renata Bizzetto et al. Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia. Haematologica. 2011 January; 96(1): 134-141.

ii. Roy V et al. Bone Marrow Transplantation for Diamond-Blackfan Anemia. Biology of Blood and Marrow Transplantation 11:600-608 (2005)_ 2005 American Society for Blood and Marrow Transplantation

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