exon 46-50 deletion

For group of families having exon 46 to 50 deletion.

Members: 14
Latest Activity: Apr 16, 2017


CRISPR/Cas9 Gene Editing

Started by Jeffrey Kopp Apr 27, 2016. 0 Replies

We finally have some very promising news for the development of adequate treatment for our boys with mutations requiring double or multi exon skipping!In reading through…Continue

Tags: Duan, viral, vectors, Dongsheng, AAV

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Comment by Tuyet Lan Thi Tran on November 5, 2013 at 2:30am

Dear All

I live in Viet Nam, I just join this PPMD Comunity . I have 1 boy who under the genetic checking, not yet get the result. But my older sister have 1 boy with exon 46-50 deletion. pls advise whether have any trial clinic for this kind of gene.Thanks you

Comment by RAKTIM SINGH on September 17, 2010 at 10:23am
Hi David,
Sorry for replying late. Normally one get a mail if someone post anything of other member's wall or into the group. But in this, I had not got any mail after your posting on 18th AUG.

No, I am not aware of these high-doasage traetment part.

As such, GSK non-ambulatory trial in on in US so I guess things must be fine only.

Will update in case I find anything more here.

Comment by David on August 18, 2010 at 1:12pm

I just heard from my clinician (UC Davis in California USA) that phase 2 of the GSK trial in the US ( was 'on hold' because some primates died after high-dosage treatment and FDA wants additional follow-up toxicity studies.

She said it happened "a few weeks ago". But I can't find any info, press releases, or anything else on the topic. Do you know what this is?

Comment by RAKTIM SINGH on May 26, 2010 at 7:51am
For our kids, exon 45 and 51, both need to get skipped.
I had checked with Annemieke Aartsma-Rus of Leiden University about the feasability of this. I am quoting from her mail
Dear Raktim,

You are correct: your son’s mutation needs skipping of exon 45 and exon 51. We have shown in cultured cells from a patient with the same mutation as your son that this is feasible and leads to dystrophin restoration. We also know that it is feasible to skip two exons at once in mice and dogs.

There are currently no plans to perform clinical trials for double exon skipping. However, it is anticipated that exon 51 and exon 45 skipping drugs will be available in the near future (since they apply to the largest and second largest group of patients, respectively). We are currently discussing with the medicine agencies whether it is possible to treat patients like your son with exon 51 and exon 45 skipping drugs once they become available, or whether a separate trial would be needed for this.

Best regards,

Has anyone has more information on this type of exon skipping ( where 2 exons need to get skipped). How efficient will it be.

Comment by RAKTIM SINGH on January 19, 2010 at 7:45am
For my kid, report says exon 46 to 50 deletion.
I am putting down all the information which I was able to gather till date.

We require both exon (45 and 51) skipping. In March 2009,the researchers used a cocktail containing multiple DNA patches to bypass the affected exons.This was done in dogs.

I had tried contacting various Researchers in DMD areas to understand what can be done.
Though some agree that a cocktail ( of exon 51 skipping +exon 45 skipping molecules) can indded be a solution but we need to look at the efficiency of this.
I understand that MDEX UK group is trying to develop single oligonucleotides molecules which can skip both exons simultaneously.

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