H 70° L 52°
Cloudy | 7MPH

Enzyme Replacement Therapy Shows Promising Results in X-Linked Myotubular Myopathy

Jan. 24, 2013

A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy from 4s3 Bioscience.

The findings are published in the January edition of Human and Molecular Genetics

X-linked myotubular myopathy (XLMTM) is a severe muscle disease caused by an absence of a protein called myotubularin. There is currently no treatment for this disorder, and most patients die in infancy or childhood. The overall incidence of myotubular myopathy is 1 in 50,000 live male births.

Michael W. Lawlor, MD, PhD, assistant professor of pathology at MCW, researcher at the Children’s Hospital of Wisconsin Research Institute, and director of the pediatric pathology neuromuscular laboratory in MCW’s division of pediatric pathology, coordinated a study at Boston Children’s Hospital and MCW that used targeted enzyme replacement therapy to deliver myotubularin to muscles of mice with XLMTM. After two weeks of treatment, the mice showed marked improvement in muscle function and pathology.

“These promising findings suggest that even low levels of myotubularin protein replacement can not only improve weakness in patients, but also at least partially reverse the structural abnormalities seen in XLMTM,” said Dr. Lawlor. “The next step is to determine appropriate dosage, and toxicity, before we venture into human trials,” he continued.

The study was supported by the National Institutes of Health, the Muscular Dystrophy Association, the Joshua Frase Foundation, and the Lee and Penny Anderson Family Foundation.

Co-authors of the study are Dustin Armstrong and Michael O’Callaghan from 4s3 Bioscience, Inc.; Marissa Viola, Cynthia P. Hsu, and Alan H. Beggs from Boston Children’s Hospital and Harvard Medical School; Jeffrey J. Widrick from Spaulding Rehabilitation Hospital; Hui Meng from MCW; Robert W. Grange from Virginia Tech; Martin Childers from Wake Forest University; Christopher R. Pierson from Nationwide Children’s Hospital; and Anna Buj-Bello from INSERM.

The efforts of Drs. Armstrong, Beggs, and Lawlor began while Dr. Lawlor was working for Dr. Beggs at Boston Children’s Hospital, and this collaborative effort has continued at Dr. Lawlor’s lab at MCW. As studies progress, Dr. Lawlor will continue to perform pathological analyses on research tissue from preclinical studies with the 4s3 Bioscience replacement enzyme and assist in further elucidating the pathophysiology of XLMTM. This work by Dr. Lawlor’s laboratory utilizes resources partially supported and available through the Children’s Research Institute’s Imaging Core Facility.

This site uses Facebook comments to make it easier for you to contribute. If you see a comment you would like to flag for spam or abuse, click the "x" in the upper right of it. By posting, you agree to our Terms of Use.

Suburban News Roundup

E-mail Newsletter

Your link to the biggest stories in the suburbs delivered Thursday mornings.

Enter your e-mail address above and click "Sign Up Now!" to begin receiving your e-mail newsletter
Get the Newsletter!

Login or Register to manage all your newsletter preferences.

Community Watch

» Bedbugs found in Wauwatosa juvenile court center Updated:  05:35 PM

» Nordstrom Mayfair announces gala, late-night party fundraising events 09:03 AM

» Aurora plans $35 million upgrade to psychiatric hospital in Tosa Updated:  10/2

» Updated week seven rankings of area prep football teams and players Updated:  10/2

» Mayfair mall, Susan G. Komen host series of breast cancer events 10/2

» Wauwatosa schools celebrate Walk to School Day on Oct. 7 10/2

» Initial Reaction Podcast: Is Aaron Rodgers really the best QB in football? 10/1

» Wauwatosa West football whips Pius XI in wild scoring affair 9/29

» Tosa West boys split two matches 9/29

» East kickers tie, lose, win during busy week 9/29

» Tosa East girls take third at Bay Invitational 9/29

» East's Potter finishes second at Nikolai Invite 9/29

» Wauwatosa Sports Shorts Oct. 1 9/29

» Tosa fourth in GMC golf standings 9/29

» 3 things you can do to protect your family, pets from coyote attacks Updated:  9/29

» City of Wauwatosa discussing 2016 executive budget 9/28

» Tosa fire dept. offers CPR class Oct. 17 9/28

» Wauwatosa public invited to chat with education author 9/28

» Nine local office positions in Tosa will be on spring election ballot 9/25

» Comiskey's hat trick leads Bay soccer team past Tosa East, 5-1 9/24

» Public meeting to discuss Wauwatosa coyote problem scheduled Oct. 6 Updated:  9/24

» Tosa Farmers Market to host biking event Sept. 26 9/23

» Echelon Apartments ready to open at Innovation Campus in Wauwatosa 9/23

» Bucks set Fanfest for Oct. 3 9/23

» Wauwatosa East Sports Shorts: Sept. 24, 2015 9/23

View All Posts Got a tip? Welcome rss



Hidden Tosa


"Hidden Tosa" is a semi-regular feature where reporters Rory Linnane or Rachel Minske explore the closed down and closed off parts of Wauwatosa.


Local Business Directory