About

News and press releases about the Joshua Frase Foundation and its efforts behind CNM/MTM

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Thu, Jun 21, 2018

Rare Leader: Alison Rockett Frase, President of the Joshua Frase Foundation

The Basics
Name: Alison Rockett Frase

Title
: President, co-founder, and patient advocate

Organization
: Joshua Frase Foundation for Congenital Myopathy Research

Disease focus
: Myotubular myopathy, a X-linked genetic condition that affects skeletal muscles and occurs almost exclusively in boys. People with this condition have muscle weakness and decreased muscle tone. The condition impairs the development of motor skills, such as sitting, standing, and walking. Often people with the condition need assistance breathing and suffer abnormal bone development. About half will die within the first 18 months of life, and most will not live past early childhood.


Thu, Jun 07, 2018

Gene Therapy for Myotubular Myopathy: Early Signs of Success!

Parents cherish developmental milestones, from a newborn’s grip of an offered finger; to an infant’s holding her head up the first time; to rolling over, creeping, and crawling; then to standing, cruising, and finally walking. Even kicking during a diaper change or yowling requires muscle strength and coordination. But a boy with X-linked myotubular myopathy (MTM) is so weak that even breathing is a huge struggle. If a baby survives the initial hospital stay, care at home becomes a full-time job and is only supportive, delaying the inevitable. That grim picture may be changing.


Fri, Jun 01, 2018

From Canines to a Cure


Fri, May 18, 2018

Audentes Announces Continuing Positive Data from First Dose Cohort of ASPIRO, a Phase 1/2 Clinical Trial of AT132 in Patients With X-Linked Myotubular Myopathy

Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases, today announced continuing positive data from the first dose cohort of ASPIRO, a Phase 1 / 2 clinical trial of AT132 in patients with X-Linked Myotubular Myopathy (XLMTM).  ASPIRO is a multicenter, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately 12 XLMTM patients less than five years of age.  The data were presented during an oral presentation at the 21st annual meeting of the American Society of Gene and Cell Therapies in Chicago, IL.


Wed, Feb 28, 2018

A Boy With the Will to Live: Biobanking Contributing to Breakthroughs in Rare Diseases

Joshua Frase was born on February 2, 1995. When Joshua was three months old, a muscle biopsy revealed that he had the ultra-rare X-linked myotubular myopathy (XLMTM), a muscle disorder. Tragically, only 50% of the children born with Joshua’s disorder live to the age of two. Fewer still survive past their early school years. Joshua’s parents, Paul and Alison, were told that he may not survive the day. After 24 days in the NICU, his parents were told to take their child home and enjoy the remainder of the little time they had left. Joshua lived to 40 days shy of his 16th birthday.


Thu, Jan 04, 2018

Audentes Announces Positive Interim Data from First Dose Cohort of ASPIRO, a Phase 1/2 Clinical Trial of AT132 in Patients With X-Linked Myotubular Myopathy

Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases, today announced positive interim data from the first dose cohort of ASPIRO, a Phase 1 / 2 clinical trial of AT132 in patients with X-Linked Myotubular Myopathy (XLMTM).  ASPIRO is a multicenter, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately 12 XLMTM patients less than five years of age.


Wed, Nov 22, 2017

UW, Family Rewriting Neuromuscular Research

Physicians and researchers at the UW Medicine Institute for Stem Cell and Regenerative Medicine have partnered up with a nonprofit foundation in one of the leading efforts to find a cure or treatment for a rare neuromuscular disease called myotubular myopathy (MTM).


Tue, Oct 17, 2017

Transnetyx produces "Brick in the Wall," second short film in its Love Letter Series

MEMPHIS, Tenn., Oct. 17, 2017 /PRNewswire/ -- Transnetyx, an automated genotyping company that serves biomedical researchers worldwide, today announced the premier of the documentary, "Brick in the Wall," as part of its storytelling collection, the Love Letter Series. The series chronicles the impactful stories of patients with rare disorders and the people who dedicate their lives to serving innovative research, aimed at finding a cure. "Brick in the Wall" follows the life and legacy of Joshua Frase, and his family's journey to find a cure for myotubular myopathy (MTM).


Wed, Oct 11, 2017

The Joshua Frase Foundation for Congenital Myopathy Research, Inc.

Article on Alison's speech at the National Animal Interest Alliance, October 2017


Thu, Sep 21, 2017

Audentes Therapeutics Announces Dosing of First Patient in ASPIRO, a Phase 1/2 Clinical Trial of AT132 for the Treatment of X-Linked Myotubular Myopathy

SAN FRANCISCO, Sept. 21, 2017 /PRNewswire/ -- Audentes Therapeutics, Inc. (Nasdaq: BOLD), a biotechnology company focused on developing and commercializing gene therapy products for patients living with serious, life-threatening rare diseases, today announced it has commenced dosing of patients in ASPIRO, a Phase 1 / 2 clinical trial of AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM).  ASPIRO is a multicenter, multinational, open-label, ascending dose study to evaluate the safety and preliminary efficacy of AT132 in approximately twelve XLMTM patients less than five years of age. Preliminary data from ASPIRO is expected to be available in the fourth quarter of 2017.


Wed, Jun 07, 2017

Gene Therapy Leads to Long-Term Benefits in Dog Model of Devastating Childhood Disease

Researchers who previously showed that a gene therapy treatment could save the lives of dogs with a deadly disease called myotubular myopathy—a type of muscular dystrophy that affects the skeletal muscles—have found that the therapy is long-lasting. The results support a clinical trial in patients.



Tue, Mar 21, 2017

Determined Parents are Moving the Needle on Gene Therapy

Families of patients are starting advocacy groups, raising money for research, and founding biotech companies to advance cures for rare diseases.


Fri, Feb 03, 2017

Local Foundation Makes Headway In Gene Replacement Therapy

One little boy, who was granted just 15 years on this earth, touched a lot of people for the good.


Thu, Jan 26, 2017

An Active Philanthropist

An active philanthropist, Costa is an avid supporter and board member of various charitable organizations, such as the Multiple Sclerosis Foundation; Joshua Frase Foundation, supporting the ongoing research for myotubular myopathy; and the Sean McDonough Charitable Foundation, raising funds for children’s charities throughout Massachusetts. In his free time, Costa enjoys dining at new restaurants, wine tasting, and traveling the world.


Wed, Nov 23, 2016

A Walk to Remember

Students at Landrum Middle School in Ponte Vedra Beach participated in the ninth annual Walk of Remembrance on Monday. The purpose of the event was to allow students to honor veterans as well as victims or survivors of cancer. These two causes were chosen by the Landrum I.M.P.A.C.T. club (Inspiring Mentoring Parents and Caring Teachers), a student group that aspires to help those in need and promote community involvement and awareness.


Sat, Nov 12, 2016

Pine Brook Resident Advocates for Patients with Rare Muscle Disease

MONTVILLE, NJ – When a family member is diagnosed with a debilitating condition, it’s natural to reach out to not only family, but others whose loved ones are going through the same thing.


Mon, Nov 07, 2016

Odessa Mom Spreads Awareness of Her Son's Fatal Muscle Disease

Lindsay Jones and Ryan Jones are married. Ryan is an Odessa firefighter and Lindsay is a stay-at-home mom, but what she does, requires 24 hour love and care, for little Raxton.


Mon, Oct 17, 2016

Paul Frase remembers former teammate Dennis Byrd

His post football-playing travels landed former Jets defensive tackle Paul Frase in Oklahoma City about eight or nine years ago for business, and Frase says now that he wasn't about to let the opportunity pass without trying to reunite with his old Gang Green teammate and Oklahoma native, Dennis Byrd.


Wed, Aug 03, 2016

Guest Blog: Tour For A Cure

Alison's visit with European MTM families, MTM European Family Conference, European Neuromuscular Center, Genethon, and The French MuscularDystrophy


Our recent campaign to increase participation in our Family Registry was published in MDA Quest Magazine, and can be seen below.