Gene Therapy Experiment in Milan

Hello,

I know this case is not related to thalassemia but if the gene therapy is a success than it may open doors for thalassemia as well.

Good Luck

Boy's best chance for life is in Milan
 
CHARLA JONES/TORONTO STAR
Mar 12, 2007 04:30 AM
Tanya Talaga
Health Reporter

After an agonizing wait, 14-month-old Parker DesLauriers and his parents are heading off to Italy today so the infant can begin potentially life-saving, experimental gene therapy.

Parker suffers from a rare disease called ADA-deficient severe combined immunodeficiency (SCID), an illness he inherited from his parents, who both carried a copy of a defective gene.

"I started packing today and it's crazy," Parker's elated mother Tracy told the Toronto Star last week. "I've got five suitcases. We are going from a nice-sized home to a tiny hotel room."

The condition, also known as "boy in the bubble" disease after a famous case in the 1970s, is so rare that the Hospital for Sick Children has only treated 15 patients in the past two decades.

Parker spent most of his first five months of life at Sick Kids – isolated from others for fear he would catch an infection his body is unable to fight off. He was finally allowed to go home to Ajax last June while he is on ADA replacement therapy and his immune system is propped up.

Air Canada has donated the DesLauriers' flights to Milan and is making every effort to ensure the family arrives safely, including whisking them through the airport check-in and security lines. "It's perfect," she says. "Five minutes before we get to the airport, we'll call them and they'll check us in and take us to the lounge."

Air Canada will also assist when the family lands in Frankfurt,in order to catch their connecting flight to Milan. "I'll bring my little Lysol wipes and wipe down his seat," said Tracy, who always makes sure Parker is in the cleanest environment possible.

The disease means his body is missing the enzyme adenosine deaminase (ADA). Without this enzyme, which removes toxins from the body, toxins accumulate in the blood and organs and can lead to critical infection.

He currently gets ADA through enzyme injection therapy at Sick Kids twice a week and he's thriving.

But few children survive more than three years on this therapy, known as PEG-ADA.

The experimental gene therapy in Milan is Parker's best hope at long-term survival. The family will be in Milan for six months. There, Italian doctors, led by Dr. Alessandro Aiuti, will remove stem cells from his bone marrow and introduce a normal version of the ADA gene. These will be reinjected and it is hoped they will migrate to the bone marrow and begin making ADA.

Scientists believe gene therapy holds much promise for the future. A cell's genetic material is stored on chromosomes in the nucleus on long molecules of deoxyribonucleic acid or DNA, which contain genes that dictate an organism's characteristics.

"Parker has been doing so well, I don't even think about this not working," said Tracy of her son, who weighs 26.5 pounds.

After they arrive, Parker will go through one month of tests. Then he'll be given chemotherapy and placed in isolation. After a period of time, the gene therapy treatment will begin.

There are 16 children participating in the clinical trial. Since this is a trial, the family doesn't have to pay for the medical treatment.

But both Tracy and her husband Kevin have taken leave from their teaching jobs to be with their son full-time, so money will be tight.

The family is looking forward to a big homecoming in six months. "Our arrival home will be more fun than the departure," she said. "My mom has been crying for two weeks."

 

I sure wish they pull it off.

It's the kind of breakthrough that we need too. Some how to replace the faulty genes on our Bone Marrow!

I wonder how they are going to do it?

Well, all my prayers are with them

Yes Sajid,

This experiment is also important because so far the biggest problem in gene therapy is selection of effective vectors (transmitor) which can carry and introduce corrected genes in bone marrow. Production of healthy genes so far is not a big problem.

So lets hope they find vectors that can carry beta chains as well.

I sincerely hope we can pull it off so that in near future Andy will be out of job.    

This website gives an update as to what is happening with Parker. It is updated daily.

http://www.scidada.blogspot.com

I think it's the correct one.

Regards.
Manoj

Below is the link to an update on Parker.

http://www.thestar.com/News/GTA/article/261446

I pray for the family involved - and for the sake of all others who will benefit when doors are opened - if these therapies are a success.

Blogspot is banned on my ISP

even Pkblogs and Inblogs are not working to override the ban

Is there another way to view it?

Posting here for you Sajid !!

I do apologise, as I normally do when I do not write an article in a long time. We have run out of Internet time so we have to purchase a card for every 30 minutes of Internet we use now. So, we try not to use up the card too quickly. In addition, I have tried to use as much of my free time to review for my exam that I have to write a couple weeks from returning to Canada. That said, I am writing now and we do have some good news.

I had mentioned that there was a good possibility that we would be returning home with Parker very soon. I am happy to say that we have gotten confirmation from Parker's team of doctors in Italy that we may return to Canada. Thus, in the next several days we will once again get to sleep in our own bed and Parker in his own room.

My wife mentioned last night at dinner that we have spent a lot of time in our battle against Parker's immunodeficiency. Now, that we are going home I can say that the first half of the battle is complete.

Parker still remains immunodeficient. Actually, he is much more immunodeficient leaving Italy than he was coming. Without giving away too much information about the team's work I will give you a couple of numbers to ponder. Eight months ago Parker had about 2500 neutrophils per unit of blood and the results of some tests in the months prior to then Parker had over 3000. Since completing the gene therapy and after giving his bone marrow some time to recuperate from chemotherapy Parker's most recent blood results have his neutrophils just beginning to reach 2000. And even still, there will definitely be some fluctuations in these level over the next several weeks.

If you have been reading the blog for a while now you may remember how well Parker responded to PEG-ADA (the injections of ADA he received twice a week to give him the enzyme he was unable to produce himself). The greatest number of lymphocytes that I have recored for Parker are 2600 cells/unit of blood. Now, this is a relatively high number of cells for a child on PEG-ADA but as I had mentioned Parker did respond well on enzyme replacement therapy. Now, before I mention the number of lymphocytes that Parker has three months post gene-therapy I have to mention a couple things about PEG-ADA.

First, PEG-ADA is not a long term solution. Although Parker had normal levels of lymphocytes (low but relatively still normal) while on PEG-ADA the effectiveness of the drug after only a few years of being on it decreases significantly. It decreases enough after three years that Parker would have very little few lymphocytes left by the time he was to enter kindergarten.

Secondly, Parker would have to have the twice weekly injection of PEG-ADA for the rest of his life. With each injection costing $2500US it becomes very expensive and there is no guarentee that the government would pay for the drug indefinitely.

It was for those reasons we chose to take part in the gene therapy trial rather than having Parker stay on enzyme replacement therapy for his lifetime.

As I was saying, Parker had quite a few lymphocytes while on PEG-ADA (2600 in August 2006). Shortly, when we leave Italy, Parker's lymphocyte level will be somewhere in the range of 100 to 200 cells/unit. Yes, this is significantly less that what he had on PEG-ADA but we knew right from the start that it would take quite a bit of time for Parker's lymphocyte level to increase after gene therapy. They may never reach the level they were while Parker was on PEG-ADA but at least a portion of his cells produce ADA by themselves. For that reason these modified cells will be able to rid Parker's body of the metabolites that cause serious damage to his organs in addition to putting his immune system into a state where it is unable to fight infection.

We are still unsure how well the therapy will work for Parker since there was some difficulty with the therapy over the past months. Remember, there was a time that we thought we were going to have to repeat the therapy because it did not work. Now, only a couple of months later we are happy to know that although Parker may not be their most successful patient to date the therapy does seem to be working.

What do these numbers mean for us and Parker? We must continue to keep him protected so that he does not catch a serious infection. My wife will remain at home for at least another year before returning to work and we both will do everything possible to keep ourselves from bringing anything that can harm him inside the walls of our home.

We are extremely excited about returning home to see our family and friends. There are so many people that we want to thank and I know that I am going to miss a bunch of people but I want to try anyways.
 

Written by Parker's father on 25th september 2007,want me to post more?

ZAINI.

Thanks Zaini,

I think I get the picture. I know he is a difference case than ours and his low lymphocytes are not enough for him to stay outside his protected environment, but the good news is that he is off from getting the hormone replacement therapy. So, it is still good.

I hope even a partial success in case for Thal. would mean a low Hb but it should be enough to keep us Thals off the Tx. and Desferal which is good enough for me.

My understanding of gene therapy for thalassemia is that some amount of expression is required - it does not need to be complete.  heck - many of us are thal minor and we function just fine.  This is all very tricky and very different, depending on the disease being treated.