Wednesday, December 27, 2006

Newsfeed in regards to ADA Deficiency

Long-Term Safety and Efficacy of Stem Cell Gene Therapy for ADA-SCID [Abstract #200]

Severe combined immunodeficiency (SCID) is caused by a severe genetic defect often found in newborns. Because the immune system is so severely compromised, exposure to even benign germs can result in serious or life- threatening infections like pneumonia, meningitis, or bloodstream infections. The condition must be diagnosed and treated quickly to prevent serious complications, and doctors continue to struggle with often ineffective treatment options. In this study, a team of Italian researchers found that the use of stem cells may effectively fight SCID caused by a deficiency of the ADA gene (adenosine deaminase), which is critical for the immune system to function properly.

Previous research has shown that immune function has improved when patients were given an autologous hematopoietic stem cell transplant (HSC), from the body's own bone marrow, combined with the ADA gene. The current phase I/II study treated eight ADA-SCID children (ages 7-67 months) with HSC conditioned with busulfan, a treatment that helps with the engraftment process. After following patients for an average of three years, researchers have seen no adverse events related to the gene transfer. In fact, they have observed that the stem cells have successfully integrated into the patients' marrow, giving rise to genetically repaired blood cells.

In the six children with a follow-up of more than one year, white blood cell counts progressively increased and T-cell functions normalized. In addition, tests found the presence of antigen-specific antibodies (proteins that help the immune system identify and fight bacteria and viruses). In five patients, levels were high enough to discontinue supplemental antibody treatment.

"We feel that these data confirm the safety and efficacy of gene therapy in improving immune and metabolic function in children diagnosed with this form of severe combined immunodeficiency," said Alessandro Aiuti, MD, of the San Raffaele Telethon Institute for Gene Therapy in Italy and lead author of the study with Maria Grazia Roncarolo, MD. "This may represent a viable solution to reduce the mortality rates associated with SCID in newborns."

At the conclusion of the study, all participants were healthy, with no severe infections, up to six years from the treatment. Researchers noted that because the ADA genes had sustained activity in the blood cells, the children's growth and development has continued to improve.

The treatment is funded by the Italian non-profit Telethon Foundation, a major charity that raises and distributes funds in Italy for biomedical research on genetic diseases, and has recently attained Orphan Drug status from the European Medicines Agency (EMEA).

Obtained from:


Uncle Mikey said...

Good Morning Parker,

I'm glad to hear you had such a wonderfull Christmas. I knew Santa would spoil you, seeing as you were first on his nice list this year. Enjoy all your new toys, I think a few more will be coming on the 15th. I can't believe you're turning one soon...just think of all the cake you get to eat!!

Take care and thank your dad for the article's nice reading possitive feedback about the treatment in Italy.

Love Uncle Mikey, Auntie Christini and Jacob

Natalie said...

Hello My Little Parker Pants!

I missed you little one! I hope that you had a very Merry Christmas and I can tell from the wonderful photos that you did! Yippee! Santa came to visit! What luck!

I hope that you are enjoying all of your new toys...they look like such fun!

I think that your dinner on Christmas day looked absolutely delicious! I wish I could reach through the computer screen and take a great big bite!

Merry Christmas Parker Poo!

Auntie Natalie & Uncle David xoxox

Auntie Christini said...

Dear Parky,
We missed you at Christmas, due to all of us being ill (Jacob still seems to be fighting something!) but we're so happy you got a ton of gifts from Santa this year. You deserve it big guy! We will see you once we are all healthy. Play lots and lots and you'll have even more fun when you start walking, which will probably be soon. Take care Parker. You are always in our thoughts.
Love you,
Auntie Christini xoxoxoxo

Bree said...

Wow! Great article! I wonder if they can one day do something like that for me! No more IV's!!