Health: Drug Gets Pulled Away From Families, Children Now Struggling

By Stephanie Stahl

PHILADELPHIA (CBS) - An experimental drug that was helping children with neurological disorders has been shelved by the maker.  Local families are outraged and heartbroken.  3 On Your Side Health Reporter Stephanie Stahl explains what happened, and why families are so desperate.

Temper tantrums are typical for children with Fragile X syndrome.  Other symptoms include trouble reading and garbled speech.  And then there's the hand flapping and difficulty sitting and concentrating.

"They have a lot of anxiety.  They have a lot of ADHD symptoms, and they have this other part of them which could be called agitation," said Kara Frech, whose sons have Fragile X.  9-year-old Andrew and 7-year-old Jason were born with the genetic disorder that affects about 100,000 Americans.  It's a leading cause of intellectual disability.

The boys who live in Chester County had been on an experimental drug called Arbaclofen.  Kara says it made them calmer, happier, and more focused.  Andrew was even able to easily make understandable presentations in class, a big breakthrough with the drug.

"It was definitely life changing, yes.  It gave them life.  It gave them, it gave us hope for the future," said Kara.

But in May, Seaside Therapeutics, the maker of Arbaclofen, informed hundreds of families the drug would no longer be available for what's called an open label phase of the study because "benefits were not evident."

"It's just really a shame," said Dr. Amanda Bennett, who headed the research at The Children's Hospital of Philadelphia.  She had to get the drugs back from families.

Stahl asked Dr. Bennett, "People are freaking out?"

Dr. Bennett replied, "They are.  They are.  I am too a little bit.  I want to be able to help my patients," said Dr. Bennett.  She says the drug had been in various stages of testing for years.  Seaside invested millions.  But its benefits on things like cognitive development and social isolation are subjective and hard to measure.

"It's been difficult to find an outcome measure that the FDA would approve.  The company being small essentially ran out of resources to continue to study the drug," said Dr. Bennett.

Seaside says it's finishing up a different study on Arbaclofen, which could eventually be presented to the FDA for approval.

But for now Kara and other families struggling with Fragile X are back to lives of turmoil.

"To have gone through that and to have thought it was all rosy and we were staying on and it was going to be approved and whatever, it's just heartbreaking," said Kara.

Fragile X families are appealing to Congress and have started an online petition hoping that somehow Seaside could resume the trial.  The head of the drug company declined our requests for an interview.

For more information, visit the links below:

Fragile X Syndrome Information- http://ghr.nlm.nih.gov/condition/fragile-x-syndrome and http://www.cdc.gov/ncbddd/fxs/index.html

Fragile X & Autism Families for STX209 (Arbaclofen)- http://stx209stories.com/

Seaside Therapeutics- http://www.seasidetherapeutics.com/