‘Very dis­heart­en­ing and frus­trat­ing’

FDA pulls trial drug; par­ents fear it could be a death sen­tence for their boys

Daily Local News (West Chester, PA) - - FRONT PAGE - By Fran Maye fmaye@21st-cen­tu­ry­media.com @ken­nettpa­per on Twit­ter

When the U.S. Food and Drug Ad­min­is­tra­tion last month de­clined to re­view a drug that could save the lives of her two chil­dren, Joanna John­son, a Unionville High School Span­ish teacher, is afraid what the fu­ture will bring.

El­liott, 13, and his brother, Henry, 10, suf­fer from Duchenne mus­cu­lar dys­tro­phy (DMD), a rare form of mus­cu­lar dys­tro­phy that causes mus­cle weak­ness. Those suf­fer­ing from this dis­ease even­tu­ally lose the abil­ity to care for them­selves, and usu­ally die be­fore turn­ing 25. DMD af­fects ap­prox­i­mately one in ev­ery 3,500 boys born each year.

The FDA re­cently is­sued a Re­fusal to File let­ter for PTC Ther­a­peu­tic’s oral, first-in­class, pro­tein restora­tion ther­apy Translarna, stat­ing that “the ap­pli­ca­tion was not suf­fi­ciently com­plete to per­mit a sub­stan­tive re­view.”

Translarna, li­censed in Europe for the treat­ment of pa­tients aged five and above, is de­signed to en­able the for­ma­tion of a func­tion­ing pro­tein in pa­tients with ge­netic dis­or­ders caused by a non­sense mu­ta­tion, an al­ter­ation in the ge­netic code that pre­ma­turely halts the syn­the­sis of an es­sen­tial pro­tein.

“This is very dis­heart­en­ing and frus­trat­ing,” Joanna John­son said. “We were lucky enough to get our boys

in this trial. There are kids all through­out the coun­try who have the same ge­netic mu­ta­tion that El­liott and Henry have. They can­not get ac­cess to the drug un­til the FDA de­cides on a path for­ward.”

El­liott, a stu­dent at Down­ing­town Mid­dle School, is still am­bu­la­tory and takes a scooter to school to con­serve his en­ergy. So far, he has not had car­diac or pul­monary con­cerns and has lost no up­per body func­tion. He plays the drum in the school band.

Henry, a stu­dent at Brad­ford Heights El­e­men­tary School, plays soc­cer.

With­out hope of a drug that of­fers a cure, both boys can ex­pect to live to their mid-20s.

“The tri­als of­fered tremen­dous hope,” John­son said. “My goal is to keep life for them as nor­mal as pos­si­ble and to have them have a nor­mal so­cial life and do things their friends can do. But the bot­tom line is they don’t have time be­cause this is a pro­gres­sive mus­cle wast­ing dis­ease. Ev­ery day, they lose mus­cle, lose func­tion.”

Joanna and her hus­band Paul be­came ac­tive to form a par­ent project that de­vel­oped into Run for Our Sons after their sons were di­ag­nosed with DMD in 2007. Over the last six years of Unionville Run for Our Sons, more than $350,000 has been raised to sup­port Duchenne re­search.

“I have gone to Wash­ing­ton to ad­vo­cate for this drug,” Joanna John­son said. “I told El­liott (that the FDA will not re­view the drug), and he says they are be­ing stupid. It’s al­most like they have shut the door with­out con­sid­er­ing the to­tal­ity of the data. We don’t have the lux­ury of a large pa­tient pop­u­la­tion in stud­ies that take place over years. There just isn’t much time we have.”

“My goal is to keep life for them as nor­mal as pos­si­ble and to have them have a nor­mal so­cial life and do things their friends can do. But the bot­tom line is they don’t have time be­cause this is a pro­gres­sive mus­cle wast­ing dis­ease.” — Joanna John­son, mother of El­liott and Henry, who have Duchenne mus­cu­lar dys­tro­phy

SUB­MIT­TED PHOTO

The John­son fam­ily, Joanna and Paul, and their chil­dren, El­liott and Henry.

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