For Many Boys With Duchenne Muscular Dystrophy, Bright expect Lies Just Beyond Reach

Lucas was 5 before his parents, Bill along with Marci Barton of Grand Haven, Mich., finally got an explanation for his difficulties standing up or climbing stairs. The diagnosis: muscular dystrophy.

Mr. Barton turned to Google.

“The first thing I read was, ‘no cure, in a wheelchair in their teens, pass in their 20s,” Mr. Barton said. “I stopped. I couldn’t read any more. I couldn’t handle the item.”

Then he found a reason to expect. For once ever, there are clinical trials — nearly two dozen — testing treatments in which might actually stop the disease.

The problem, as Mr. Barton soon discovered, is usually in which the enrollment criteria are so restrictive in which very few children qualify. As a result, families like the Bartons often are turned away.

“There is usually so much expect, although the item’s not for them,” said Kristin Stephenson, vice president of policy along with advocacy at the Muscular Dystrophy Association in Chicago.

Even for the parents whose lucky child qualifies, Great news may be followed by agonizing, life-or-death choices. What treatments seem most promising? Should he be enrolled in a trial having a placebo arm?

Should he be placed in a less risky study in which aims to slow the progress of the disease although will not stop the item? Should the parents take their chances having a trial currently — or wait a year or two, as their child’s condition worsens, until something better comes along?

Often there is usually no easy way to decide.

“We talk to families every day,” said Debra Miller who founded the advocacy group, Cure Duchenne, after her son was diagnosed with the disease. “So many times they are looking at us along with saying, ‘What do I do?’”

To help, her group has constructed detailed decision trees along with leads families through them. Ms. Miller’s own son, who is usually 22, does not qualify for the fresh clinical trials.

Ryan along with Brooke Saalman know how hard the item can be to know what to do. “We did a lot of praying,” said Ms. Saalman, mother of two boys with Duchenne in Columbus, Ga.

They decided to enroll their oldest son, Jacob, 6, in a trial of a highly experimental drug. The trial requires weekly infusions at a site 100 miles coming from their home. He is usually one of the first boys to be treated.

The investigators are testing a strategy called exon skipping: putting a molecular bandage over a tiny mutation in a large gene. The Saalmans also considered a gene-therapy trial, in which scientists were attempting to insert a fresh gene in which makes dystrophin.

although they discovered in which gene therapy may be irreversible. along with if the item didn’t work, Jacob would certainly be ineligible for an even more promising approach within the future: gene editing, to snip out the deadly mutation in which causes Duchenne, an effort currently in preclinical development.

Gene therapy along with gene editing both depend on a disabled cold virus to deliver the treatment. Once exposed to in which virus, the body makes antibodies to the item. Essentially, patients like Jacob get one shot at genetic modification.

The Saalmans made a different decision for their younger son, Hudson, 2. He was offered a spot in two trials by companies in which will accept younger boys.

The Saalmans could not decide what to do. Hudson’s disease is usually steadily progressing; muscle in which he loses currently is usually gone forever.

although they finally made the difficult decision to wait.

Hudson is usually still very young. If they wait, the Saalmans concluded, researchers will have learned more. different trials are bound to begin.

“the item’s a heavy thing,” said Leslie Porter of Blanchard, Okla., whose 8-year-old son has Duchenne. He does not qualify for any trials, along with she dreads watching him deteriorate.

“I just want time to slow down,” she said.

According to Ms. Stephenson, of the M.D.A., drug trials are seeking 2,500 patients. although most only want to enroll boys between the ages of 4 along with 7 who are affected by the disease although not yet too debilitated, along with who meet different clinical criteria, such as having a mutation within the right place within the dystrophin gene.

The trials usually require functional tests, including one in which measures how far a boy can walk in six minutes or how quickly he can get up coming from lying flat.

For many, the criteria are just too stringent. “There are not enough patients,” Ms. Miller said. “the item will be difficult to fill all these clinical trials.”

The Bartons found out about a gene-therapy trial at Nationwide Children’s Hospital in Columbus, Ohio, testing a treatment by Sarepta Therapeutics.

They watched a miraculous video of a little boy struggling to walk up a flight of stairs before treatment — along with then doing the item easily afterward.

“in which was what we were hoping for,” Mr. Barton said.

Lucas was the right age, along with he seemed to qualify. although testing showed in which he carries antibodies to the virus used to deliver the treatment. the item would certainly not work for him.

The Bartons were drained, devastated. along with for currently, there is usually no different trial in which Lucas qualifies for.

“I had my put my hopes into in which,” Mr. Barton said. “the item was the miracle.”

Dr. Jeffrey Bigelow, a neurologist, along with his wife, Alexis Bigelow, of Millcreek, Utah, hoped against expect in which their son Henri, 8, would certainly qualify for the only gene therapy trial in which will accept boys his age.

Then the Bigelows found out in which enrollees of Henri’s age have to be able to lie down along with then stand up with their hands at their sides in less than 10 seconds.

the item took Henri 10 seconds to do in which last spring, when he was evaluated for another trial. currently the item would certainly probably take him 20 seconds, his father said.

“the item feels like Henri is usually being punished for losing the ability to stand up coming from the ground too soon,” Dr. Bigelow said.

He also worries about older boys with Duchenne who are lucky enough to still walk. They are shut out coming from the trial because they are not yet in wheelchairs. along with different trials won’t accept boys in which old.

“These are boys who, like Henri, desperately need the treatment, along with if they don’t get the item within the next one to two years, likely will be confined to a wheelchair, to never walk again,” Dr. Bigelow said.

“in which just feels unjust.”