Exon skipping 53


Exon skipping 53


My son has deletion 48-52 and need 53 skipped. Want to get in touch with any one who needs 53 skipped.



Members: 19
Latest Activity: Jun 16, 2018


exon 53 skipping

Started by connie lainez Feb 16, 2017. 0 Replies

My grandson has 49-52 exon skipping he is 12 years oldContinue

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Comment by rajendra garad on June 16, 2018 at 3:09pm
My son has 48-52 deletion
He is 4 years 7 months old
Last year we came to know he is having Dmd
He is on deflazcort .cqlc and multivitamins
We are from India.
We did stem cell therapy to him.
He is better than last year.
Hope any up coming treatments may help him better
Comment by Alexandre da Costa e Silva on February 17, 2017 at 8:44am

Hi Amrit and Connie. My son has deletion 48-52 and need 53 skipped also.  We live in Brasil and he was diagnosed when he was 3yr old. Since than he has received all the available treatment like physiotherapy, hydrotherapy, and makes use of deflazacort, heart drugs in addition to vitamins and antioxidants. We are also waiting for the EXXON Skipping 53. If I can help in any way please let me know.

Comment by connie lainez on February 16, 2017 at 3:01pm

My grandson has 49-52 exon he is 12 years old

Comment by Alexandre da Costa e Silva on September 8, 2014 at 7:00am

Dear All, My son, Rafael, has a deletion of exons 48 - 52, so he needs to skip 53 as well. Is this group still active ?

Comment by Leslie Guzman on November 28, 2012 at 12:13am



Here are some encouraging news:





Sarepta Therapeutics Enters Into Collaboration for the Development of Additional Exon-Skipping Product for Duchenne Muscular Dystrophy

Collaboration Represents Significant Progress in Sarepta's Path to Develop Treatments for Broader DMD Population

Nov 26, 2012 (Marketwire via COMTEX) -- Sarepta Therapeutics (NASDAQ: SRPT), a developer of innovative RNA-based therapeutics, announced today a collaboration for the development of an additional exon-skipping drug targeting exon 53, its fourth drug in development, in support of Sarepta's broad-based program for the treatment of Duchenne muscular dystrophy (DMD). Sarepta's collaboration is with University College London's (UCL) scientist, Professor Francesco Muntoni, MD, the Dubowitz Neuromuscular Centre, the Institute of Child Health and other scientists from the EU and US. The EU Health Innovation-1 2012 Collaborative research grant will support certain IND-enabling activities and clinical proof of concept studies for an exon 53-skipping therapeutic. Sarepta recently announced positive results from its extension study of its Phase IIb trial of eteplirsen, its exon 51-skipping therapeutic candidate for the treatment of DMD. Sarepta is also developing other PMO-based exon-skipping drug candidates for exons 45 and 50.

"The recent compelling clinical data on eteplirsen targeting exon 51, which started with our work on the Phase I study in the UK, provides a strong foundation for using Sarepta's technology against exon 53," said Francesco Muntoni, professor of pediatric neurology and head of the Dubowitz Neuromuscular Centre at the UCL Institute of Child Health, London. "We are pleased to be working with Sarepta to bring this exciting exon-skipping therapeutic approach to Europe and the broader DMD population."

This program will be based on Sarepta's advance proprietary RNA-based platform, Phosphorodiamidate Morpholino Oligomers (PMOs), which is a novel backbone chemistry that provides enhanced target tissue specificity, increased potency to allow for more efficient dosing, and greater uptake within a cell to further increase protein production. Targeting exon 53 with this technology will potentially address one of the most prevalent sets of mutations in DMD that are amenable to exon-skipping (deletion of exons 42-52, 45-52, 47-52, 48-52, 49-52, 50-52, or 52) by restoring the cellular machinery's ability to produce a functional dystrophin protein.

"The initiation of this program, along with our other collaborations for exons 45 and 50, continues to advance Sarepta's strategy in pursuing exon-skipping therapeutics for all of the DMD patients who may benefit from this drug technology," said Chris Garabedian, President and CEO of Sarepta Therapeutics. "Our goal of demonstrating that the success of eterplirsen can be reproduced across other exon-skipping targets is a critical step in being able to treat more boys and young men affected with this devastating disease."

About EU Health Innovation-1 2012




Comment by J's mom on August 25, 2012 at 8:51pm

My son, Jake, has a deletion of exons 45 - 52, so he needs to skip 53 as well. Has anybody heard anything lately about when a 53 trial might start?

Comment by mehmet tarık dündar on May 29, 2012 at 4:20am

Dear All, My son is suffering from DMD.He is now 2.5 years old. We need also exon 53, his deletion (45-52). We don't use cortison drugs. How can we attend to the these trials?

Comment by Claire Diemler on March 4, 2012 at 3:52pm

My son needs 53.

Comment by Amrit on February 21, 2012 at 5:25pm

Yes i heard that Prosena will be starting phase1 this year.

Comment by Bruce Underwood on February 20, 2012 at 6:10pm

My son, Connor, also has this same deletion (48-52). I was told by a doctor at one point that this deletion is pretty common. Nothing to back it up however.

Yes -- we also are awaiting the future exon skipping -- I think phase 1 testing might be this year. Though I am not certain if Prosensa or not.


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