Hello,
I just got off the phone with Lindsay, the clinical trials coordinator for Dr. Mendell. She asked me to post that anyone whose son is between 5-15 who would benefit from skipping 51 who is interested in participating in a systemic trial should contact her at arnottl@ccri.net.

The trial will have a placebo arm. It will take place in Columbus. I don't know the dosage.

Take care, all,
Mindy

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Thank you Mindy!! My son qualifies for exon skipping and we see Dr. Wong. She had our hopes up last year when she asked us if we wanted to be part of systemic trials this summer. Earlier this year, I emailed her for update and she stated that trials are only in Europe. I deflated at that time because I was so full of hope that my son could be part of trials now, and hopefully for all our boys help curb this disease - or, in the very least, help the boys of the future.

After reading your discussion.... I'm floating in the air again, just with the thought that this could really help my son as well as the many others out there!!
Thank you so much for this notice. I've sent our information in. Do you know anything about the timing for when this might come to fruition?
Nothing on timing yet...
who benefits from this trial, what individual exon if you know?
They are here: http://www.avibio.com/duchenne_muscular_dystrophy.php

Exon to be skipped Drug Candidate Stage Treatable Deletions
51 AVI-4658 Clinical Development Phase 1b 45-50, 47-50, 48-50, 49-50, 50, 52


jenn said:
who benefits from this trial, what individual exon if you know?
So not to sound utterly stupid here...but since Xavier has deletion of 48-52 would he qualify? or does it have to be exactly one of those groupings? We have always been under the impression, not sure why, that we would not qualify for a 51 skip.

Ofelia Marin said:
They are here: http://www.avibio.com/duchenne_muscular_dystrophy.php

Exon to be skipped Drug Candidate Stage Treatable Deletions
51 AVI-4658 Clinical Development Phase 1b 45-50, 47-50, 48-50, 49-50, 50, 52


jenn said:
who benefits from this trial, what individual exon if you know?
Hi Jennifer,

You don't sound stupid, this stuff is very complicated! But if I were you I'd be calling my neuro right now to get that very answer.

good luck - I will keep fingers crossed that your son qualifies! Please let us know what you find out if you don't mind.
cheryl

Jennifer Shumsky said:
So not to sound utterly stupid here...but since Xavier has deletion of 48-52 would he qualify? or does it have to be exactly one of those groupings? We have always been under the impression, not sure why, that we would not qualify for a 51 skip.

Ofelia Marin said:
They are here: http://www.avibio.com/duchenne_muscular_dystrophy.php

Exon to be skipped Drug Candidate Stage Treatable Deletions
51 AVI-4658 Clinical Development Phase 1b 45-50, 47-50, 48-50, 49-50, 50, 52


jenn said:
who benefits from this trial, what individual exon if you know?
Hi Jennifer,

It looks like they have another table with more mutations and the exons to be skipped under "Information for Physicians, Scientists and Investors" on the page: http://www.avibio.com/duchenne_muscular_dystrophy.php. With a deletion of 48-52 one needs to skip 53 to make it in-frame.

Exon skipped Repaired Deletions
51 45-50, 47-50, 48-50, 49-50, 50, 52
50 51, 51-53, 51-55
45 12-44, 18-44, 44, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55
53 10-52, 45-52, 46-52, 47-52, 48-52, 49-52, 50-52, 52
44 10-43, 19-43, 30-43, 35-43, 36-43, 40-43, 42-43, 45, 45-54
8 4-7, 5-7, 6-7, 3-7,
55 47-54, 48-54, 49-54, 50-54, 52-54, 54, 56, 56-62
7 2-6,8-11, 8-17, 8-43, 8-45
52 53, 53-55, 53-57, 53-59, 53-60
17 12-16, 18, 18-20, 18-22, 18-25, 18-27, 18-29, 18-33, 18-36, 18-38, 18-41, 18-44


Ofelia


Jennifer Shumsky said:
So not to sound utterly stupid here...but since Xavier has deletion of 48-52 would he qualify? or does it have to be exactly one of those groupings? We have always been under the impression, not sure why, that we would not qualify for a 51 skip.

Ofelia Marin said:
They are here: http://www.avibio.com/duchenne_muscular_dystrophy.php

Exon to be skipped Drug Candidate Stage Treatable Deletions
51 AVI-4658 Clinical Development Phase 1b 45-50, 47-50, 48-50, 49-50, 50, 52


jenn said:
who benefits from this trial, what individual exon if you know?
i have looked at the web site, but it doesn't say anywhere that there is a trial in columbus, only london... also is this just a safety trial or will it actually produce results( hopefully)? i sent our info, i have 2 boys, we had thought they had a deletion of 51, but it is 52, so i think they qualify for this.
Hi Jenn,
This is new news, so it's not on the website yet. They aren't even sure of the timing yet.

It is supposed to be an efficacy study (producing results), not just a safety study.

Best,
Mindy
Thanks, I thought in the back of my head that 53 was our number, I guess I knew that but was secretly hoping it was my imagination after a long work week :)

Ofelia Marin said:
Hi Jennifer,

It looks like they have another table with more mutations and the exons to be skipped under "Information for Physicians, Scientists and Investors" on the page: http://www.avibio.com/duchenne_muscular_dystrophy.php. With a deletion of 48-52 one needs to skip 53 to make it in-frame.

Exon skipped Repaired Deletions
51 45-50, 47-50, 48-50, 49-50, 50, 52
50 51, 51-53, 51-55
45 12-44, 18-44, 44, 46-47, 46-48, 46-49, 46-51, 46-53, 46-55
53 10-52, 45-52, 46-52, 47-52, 48-52, 49-52, 50-52, 52
44 10-43, 19-43, 30-43, 35-43, 36-43, 40-43, 42-43, 45, 45-54
8 4-7, 5-7, 6-7, 3-7,
55 47-54, 48-54, 49-54, 50-54, 52-54, 54, 56, 56-62
7 2-6,8-11, 8-17, 8-43, 8-45
52 53, 53-55, 53-57, 53-59, 53-60
17 12-16, 18, 18-20, 18-22, 18-25, 18-27, 18-29, 18-33, 18-36, 18-38, 18-41, 18-44


Ofelia


Jennifer Shumsky said:
So not to sound utterly stupid here...but since Xavier has deletion of 48-52 would he qualify? or does it have to be exactly one of those groupings? We have always been under the impression, not sure why, that we would not qualify for a 51 skip.

Ofelia Marin said:
They are here: http://www.avibio.com/duchenne_muscular_dystrophy.php

Exon to be skipped Drug Candidate Stage Treatable Deletions
51 AVI-4658 Clinical Development Phase 1b 45-50, 47-50, 48-50, 49-50, 50, 52


jenn said:
who benefits from this trial, what individual exon if you know?
Mindy said:
Hi Jenn,
This is new news, so it's not on the website yet. They aren't even sure of the timing yet.

It is supposed to be an efficacy study (producing results), not just a safety study.

Best,
Mindy
do you have a phone number for lindsay at dr. mendells office? i sent an email, but i would love to follow up on monday. thank you for the info, will your son be participating?

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