“Nicholas was diagnosed with Duchenne Muscular Dystrophy ten years ago. At that time, there was little hope and no clinical trials,” explains Erin Bullers, mother of Nicholas, a patient in the ESSENCE clinical trial. “He participated in natural history studies for several years providing researchers with valuable data but there was no treatment available to him other than corticosteroids. In 2016, Nicholas was accepted into a clinical trial. For the first time since his diagnosis, our family had hope! We felt incredibly blessed to have this opportunity.”

Alberto Grignolo discusses pediatric research with Nicholas Bullers and parents Brett and Erin Bullers.

What Things Felt Like Obstacles to Finding a Cure?

It is difficult to accept a 96-week placebo in the trial protocol. That is two years with being randomized to not receive a medication that we all hope can slow the progression of the disease. We understand it is necessary to have data when it comes time for approval of the medication.

Upon entering the trial, we did not take into consideration the burdens that come along with participation. The trial protocol requires weekly infusions administered through an IV at a trial site, which was UCLA (University of California at Los Angeles) for us. We live in Houston (Texas), so just getting to the site was quite arduous. Nicholas and I endured flying from Houston to Los Angeles every week for 52 weeks. Along with his education and daily care, this sizeable burden was extremely exhausting.

Would You Walk Us Through the Worst Day and How It Turned Into Something More Hopeful?

I will never forget infusion number 15. Nicholas had three nurses at his side attempting to locate a vein. He was poked and prodded seven times. I immediately raised concerns with our clinical trial coordinator (that’s your ‘go-to person’ when you’re participating in a trial, you see them every week). The clinical trial coordinator passed my concerns on to the principal investigator, who reached out to Sarepta Therapeutics on this issue.

We were given a contact at the FDA Office of Pediatric Therapeutics, and we composed a letter to that contact: Dr. Skip Nelson, who at that time was Deputy Director and Senior Pediatric Ethicist in the FDA Office of Pediatric Therapeutics.

About a month later, we received an email response that explained an FDA process to allow an amendment to the protocol that would allow for ports in this trial.

Were You Able to Contribute to That Amendment Process?

As part of this process, we wrote a letter to the principal investigator who crafted an amendment to the protocol with justification for ports and sent it to the local IRB at UCLA. The IRB approved and referred the protocol to FDA, which prompted a special meeting by FDA’s Pediatric Advisory Committee and its Ethics Subcommittee. We were thankful the Pediatric Ethics Program and the Office of Pediatric Therapeutics worked to plan this meeting so quickly, within two months. Nicholas wanted his voice to be heard and flew from Los Angeles to Washington to be a part of this historic event.

What Do You Recall About This FDA Committee Meeting?

The committee consisted of 14 voting members who heard from Sarepta Therapeutics (the sponsor), the Principal Investigator from UCLA, and a member of the UCLA IRB. My husband, Nicholas, and I presented a Powerpoint which included an emotional video showing how emotionally burdensome the difficulty of IV access was on him. Duchenne advocacy organizations, The Jett Foundation, and Parent Project Muscular Dystrophy were also present, and in the open public forum, we heard testimony from parents whose sons were having issues with IVs in this trial, and from parents who had sons with ports in a different trial. It was a really positive experience.

A vote took place after some debate and the panel voted unanimously to allow ports in the ESSENCE trial. The protocol amendment was not by any means mandatory: The decision about installing a port would be left to the parents, the study investigator, and the consulting surgeon, to make. One week later, the FDA Commissioner signed off on the use of ports. The total time from the initial IRB referral to this conclusion was ten weeks.

What Type of Services Does Nicholas’ Service Dog S’more Provide Him?

S’more brings such a bright light to the challenges that Nicholas faces. She helps him with mobility assistance. She’s prevented him from falling while he was walking. When he’s sitting in a chair, she will stand in front of him so he is able to use her to get himself up and out of the chair. She helps him get over the fear he has during doctor visits and procedures, and helps with social isolation. We travel through the airport weekly. Nicholas sits in a wheelchair and I push him. She’s leashed to the chair, and she takes all the attention off his wheelchair. People just automatically look at her with a smile on their face. Before S’more, Nicholas often felt like everybody kind of stared at him in his chair. Now, he doesn’t even mention it anymore because people are just so drawn to her. She’s just a sweet, loving dog.