Thu, Mar 12, 2015

The International Family Registry for Centronuclear and Myotubular Myopathies

Category: General

When I look at the map pictured above, I see community. I see families across the country who's lives, while different, look much like mine. I see hope for a brighter future. Most importantly, I see that I am not alone.

Wed, Mar 27, 2013

Recensus Study

Category: General

Audentes Therapeutics has initiated its first study of X-Linked Myotubular Myopathy (XLMTM), entitled RECENSUS: A Medical Chart Review of Patients with XLMTM. RECENSUS is a Latin word which means to review and investigate. The goal of this study is to collect information from medical charts in order to characterize aspects of the condition and associated medical care for males with XLMTM.

This is a retrospective, non-interventional study, meaning there is a review of past care. It does not require visits to a study site or any medical procedures.

We hope that this study will contribute considerably to the understanding of XLMTM. If you are interested in having your or your child’s medical chart included in the study, please follow the link below for more information about the study and participating sites:

https://clinicaltrials.gov/ct2/show/NCT02231697?term=audentes&rank=1

Those patients enrolled in the Begg’s registry do NOT need to do anything else. Their data is already being included in the study. Participation in this study does not influence the selection of patients for the clinical trial.

For any further questions, please contact:

Barbara H. Wuebbels, RN, MS

Vice President of Patient Advocacy

Audentes Therapeutics Inc.

Cell 480-437-0192
email bwuebbels@audentestx.com

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For those of you new to MTM, please download The Family Guide for Myotubular Myopathy created by JFF's Educational Advisory Board. This is a fantastic guide to share with all of your child's caregivers and clinicians.

Also, if you haven't already, please 'Like' us on Facebook - we love to stay in touch with our community via social media!

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

Wed, Oct 17, 2012

Flying the Puppies

Category: General

From Mandy Lockard:

"Fittingly, a XLMTM (caninie) carrier named Elvira born at Halloween not only tricked us, but she has given us a great treat...

Elvirawas recently bred to "Rocky", our XLMTM affected dog who received gene therapy. Rocky has amazed everyone by not only surviving beyond the expected age of 18 weeks, but by surviving to over a year old, due to the gene therapy we have developed, supported by your donations...

From this breeding, Elvira gave us a gift of five pups: one male and four females. To our surprise, Elvira tricked us by passing on an affected X chromosome to all of the pups in the litter... Then came our treat: Against the odds...this process has created the first known XLMTM Affected Female Dogs. These results are nothing short of miraculous.

With the realization of these female affected dogs, we have potentially more than doubled the speed of the research."

WE GET TO START SAVING LIVES DOUBLE TIME!

THE ASK: What we need is the donation of your American Express points that we can use to 'buy' flights for 4 members of our team to fly these dogs to Seattle. These pups are too fragile and valuable to risk shipping in the baggage compartment, so we will personally handle these pups on the plane. You can transfer your american express points, or if you choose to give a monetary donation through our website, just put 'dog colony' in the memo and we will apply it directly to this project. We will be transporting these pups on March 3rd, so we need your points or donation as soon as you are able to coordinate.

THANK YOU, THANK YOU, THANK YOU!!!

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

Sat, Sep 01, 2012

First Annual Benjamin Earp Run

Category: General

Dear Friends and Families,

We wanted to share what one of our families is doing this coming October. The following is copied from their Facebook event page. What this couple is doing is incredible for our community! Enjoy! - Alison Frase

Please join Allison and I for the inaugural "Run For Benjamin" 5k Run / 1 Mile walk in honor of Benjamin Earp on Saturday, October 13th, 2012 in Newtown Square, PA at 9 AM!

To sign up for the race or the walk, please go to www.runtheday.com and click "find a run" under the "runners" section. In the search box just type "Benjamin" and click search. You can then register online via the link. The race fee is $25, and all proceeds will go to the Joshua Frase Foundation ( see more info below ). Children 12... and under are free - no registration required! Please invite any friends who may be interested!

As many of you know, on February 13, 2012, our son Benjamin David Earp passed away on his 1 month birthday due to complications from a disease called X-Linked Myotubular Myopathy. He is dearly missed by all who knew and loved him for his short time with us. The company I work for, SAP, has graciously agreed to host this run on their campus in Newtown Square, PA. There is a 5k run and also a 1 mile walk option. The 5k course is comprised of 3 one mile loops around SAP's campus, and the 1 mile walk is one loop of the same course. For a course map click here.

There will be prizes for the top 2 male and female finishers and Run For Benjamin t-shirts will be available for the first 500 to register!

All proceeds from this run will go to the Joshua Frase Foundation. The Joshua Frase Foundation supports ongoing research to find a cure or treatment for Myotubular Myopathy, and also supports families who are affected by congenital myopathies. For more information on the Joshua Frase Foundation, please visit their website.

You can help support this very worthy cause in the following ways:

-Registering for the Run or Walk

-If you cannot attend, you can donate directly to the Joshua Frase Foundation. Please make sure to note the donation is a tribute to Benjamin Earp. Also, if you are an SAP Employee, please consider using the SAP Matching Program.

Allison and I would be so thrilled to see you there as we remember Benjamin, celebrate his life, laugh with friends, and raise funds to help other children with this disease. Thank you!!!!

Sincerely,

Brian and Allison

Alison Rockett Frase | PO Box 2041 Ponte Vedra, Fl 32004 | 904-607-1358

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Always for the Children

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The International Family Registry for Centronuclear and Myotubular Myopathies

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Flying the Puppies

From Mandy Lockard:

First Annual Benjamin Earp Run

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