View Full Version : Hunter familie's, I have news!

Priscilla Raftery
March 30th, 2004, 01:18 PM
I have fallen upon some information just minutes ago...not being very familiar with Hunter's (Joey has Sanfilippo) I'm not sure what I'm reading, but I believe it is new clinical trials for something called 12S? Log on to
http://www.TKTX.com There is a Hunter Media Kit, a page on PhaseI/II long-term data, AIM study for 12S Pivotal Trial and a website to log on to re: clinical trials http://www.clinicaltrials.gov.
The company is called Translaryotic Therapie's and is located in Cambridge, MA. The reason I heard of it is because a very small article about Joey was published in our local town paper in February. The CEO of this company saw the article. He had his secretary contact me and give me this information. He is sending me a personal letter in the mail. I was so excited, I couldn't wait to log on. I thought it was for Sanfilippo. But I am just as happy for all of the Hunter familie's...admitedly disappointed and sad for me, Joey and MPSIII, but I am pleased to pass this on. When I get the letter I will let you all know what it says. Priscilla

March 30th, 2004, 11:08 PM
Priscilla~ These news clips are great! I looked at the clinical trials website and found that they are also recruiting for a clinical trial for MPS VI ! Yeah! Progress !

Thanks for sharing!

March 31st, 2004, 01:16 AM
Thanks Pricilla, that is very interesting information.

March 31st, 2004, 09:54 AM
Thank you for posting this information here, Priscilla. TKT is the Pharmacutical company that has the enzyme for MPS II patients. They have been enrolling patients in the Phase III clicnical trial for ERT since September. The enrollment is expected to close this month (if not already). Unfortunately, the protocol for this trial does not allow the severely affected patients the opportunity to participate (which includes Kraig and several other kids here on the forum). However, there are families here on the forum that are able to participate in this trial and I hope that they are able to share their experiences here with everyone. ERT approval for MPS II can't come soon enough for me, I am always interested in hearing how the kids who are able to get it are doing.

That's wonderful that TKT contacted you after seeing the article on Joey. :) Do you have a link to the article that you can share with us?

Priscilla Raftery
March 31st, 2004, 10:08 AM
No, Kris, there is no link...this paper is small and not even on the web! It only covers four of the towns here on Cape Cod, that's why I was amazed the CEO of the company saw it! But, alot of very well-off people have weekend and summer homes here, so I imagine that's how he saw it, as the article came out on a Friday. I just faxed the Press Release we received from the MPS Society back in February to several papers and this was the only paper willing to publish it :roll: . Back to the ERT clinical trial, I should have known you all would have heard of it by now...having just come to my attention yesterday, I thought I had "discovered" something :lol: ! Priscilla P.S. They did, however, welcome me to come and tour their facility...I still might take them up on that!

March 31st, 2004, 10:31 AM
Priscilla, I am really glad you posted that information here. You just never know when you have new information that others have not heard about yet. I would love to visit TKT, I have contacted them several times, everyone I have talked to has been really nice and helpful. Kraig's picture has been used on several posters they have created. When I went to the International MPS conference in Paris in June 2002, I was so surprised to see the TKT display and see Kraig's picture. The display was huge, much taller than me. I was miles away from my sweet little red head, and then BAM there he was bigger than me.

Priscilla Raftery
March 31st, 2004, 01:23 PM
Wow, what a really neat story, Kris! :D

Laura Brodie
March 31st, 2004, 01:34 PM
yeah Kraig's photo was really big!! I met 'it' :lol: before we bumped into Kris at breakfast! Love Laura

April 1st, 2004, 08:26 PM
:lol: Laura. I took a picture of myself standing in front of that display.

Priscilla Raftery
April 2nd, 2004, 04:01 PM
I just received a letter in the mail from TKT. Here is what it said:
Dear Mr. and Mrs. Raftery,
I read the February 27th article in the Mashpee paper about your son, as well as the Furlani's daughters, with great interest.
Transkaryotic Therapies is, to the best of my knowledge, the only company in the world actively working on treatments for Sanfilippo syndrome, but the program is still in the basic research stage. Our progress has been slow because the enzyme missing in patients with this disease does not cross the blood-brain barrier. We are, however, working on some new approaches to the problem and hope to try direct infusion of enzyme into the central nervous system of patients with a similar lysosomal storage disease in late 2005. If that trial is successful, we hope it will allow us to move the Sanfilippo program forward.
I have enclosed a copy of our annual report, and you can also learn more about us at http://www.tktx.com. If you would ever like to visit TKT, we would be delighted to update you on our research activities.
Sincerely, (and he signed it himself)
Michael J. Astrue, President and CEO

Laura Brodie
April 2nd, 2004, 04:14 PM
Pricilla, Its so good to know they can be that personal :) our kids lives depend on these people Love Laura

April 5th, 2004, 01:15 PM
Hi everyone,

The first part of this trial the phase I/II is the clinical trial my son is in and continues to be followed with the others. There was 12 total in the first part of the trial. The phase III part has just been started with I believe about 90 patients from around the world.

We have seen some good results from this treatment and for my son, no bad side effects. He has more energy, range of motion, etc. However, he has started having problems walking with hip dysplasia (sp?) but we were told up front that it wouldn't help with the bones or cross the blood brain barrier. It has stablized his heart condition over the past 2 years. He has an enlarged heart on one side and mild to severe aortic and mitral valve leak.

He will have been on this treatment (ERT) 3 years this May. Any inprovement for our kids is wonderful!

Tressia Watkins

Sharon Cochenour
April 5th, 2004, 04:55 PM
Thanks for the update on ERT for Hunters. We are limited in the information we recieve. Sorry to hear about the hip dysphasia. Hope Cameron continues to see improvement. :)

May 24th, 2004, 02:29 PM
hi just read the stories on therapy for hunters. isaac has hunters and has quite severe brain damage and we have been warned that isaac needs to follow a series of comands- theres no way that isaac can even understand you saying get up or walk never mind anything else. any way rumour has it that even those who don't get on the trials will be given it soon as its going to improve the quality of life if anything. does anyone know if thickened heart muscles are severe or leading up to ? i just feel like theres no hope for isaac as if its a few years away ... well you just don't know .. please ignore me having a bad day today .hormones!!!!

Laura Brodie
May 24th, 2004, 02:52 PM
Kate-Has Issac had a heart evaluation? Will has severe brain damage too so I do know how you feel! Ring me anytime on a bad day! Can you get in the chat room yet?? Love Laura xxx

May 24th, 2004, 02:58 PM
:( Kate,
I just wanted to tell you that I'm sorry you are having a bad day and not to apologize for it!! It is completely allowed. I don't have experience with Hunters but from all the mom's here it sounds as if it is very difficult day to day and I am sure it is hard to see your child struggle. It is only natural for you to want to get Isaac therapy as he SHOULD get it!! All we have is hope for most of these kids and it is something none of us are going to give up!!! Don't ever feel sorry for that! You are a great mom who wants what is best for Isaac and hopefully we'll all get to see some of this science put to work for our own children. I hope you hang in there today, tomorrow is another day, and undoubtedly, another challenge so take care and know you can vent anytime you like!!


Tonia Karl
May 24th, 2004, 03:03 PM
No need to apologize that is what we are here for!!!!! I too hope the best for little Issac. Keep us posted. Tonia

May 24th, 2004, 05:19 PM
hi there just to let you know that i feel alot better now , laura phoned and that made my day!!! ive realy been rapped up with this ot that deals with isaac as we went to a chair assesment last week and when we got there we were made to feel very unwelcome and when she spoke to the rep of the chair she said," well katie thinks isaac is going to deteriorate and that his illness is going to degress in quitea way and that i felt that isaac needed this sort of level of support". she discussed that isaac used a plastic bog-standard chair at school and there were 4-5 children with 2 adults but isaac acording to his parents is very hypo and unsteady at home and that the chair at school is perfectly adequte. do you think i'm being over the top with the situation as i feel that they don't believe me and i am so angry its unreal!! i am asking for an ot changeover tommorrow as i am so fed up of having to proove isaacs disorder as if they done there research then we wouldn't have this problem! we have a good paediatrician though he looked after christine lavery's son simon .