Charlie is one the children participating in the natural history study (NHS) conducted by Ionis Pharmaceuticals in the US. The study has started in October 2023, and is currently running at 5 different sites in the US. It aims to help researchers learn more about MECP2 Duplication Syndrome and find ways to evaluate a potential treatment.
In this article, Katie, Charlie’s mom, talks about their trips, where Charlie goes through different tests such as blood draw, developmental check-ups, and brain activity measurements.
“As a parent, I have learned more about my son and MECP2 Duplication Syndrome from participating in the study, and our family is happy to be able to contribute to the research.”
Our Experience in the Ionis-sponsored Natural History Study (written by Katie Wester-Neal)
Since late 2023, my 8-year-old son Charlie and I have been traveling to Texas Children’s Hospital in Houston, Texas to participate in a natural history study sponsored by Ionis Pharmaceuticals. Across the United States, there are several other sites for the study, including Vanderbilt University in Nashville, Tennessee and the Children’s Hospital of Philadelphia in Philadelphia, Pennsylvania.
The study is observational and involves multiple assessments. Charlie does not receive any intervention or medicine during the study, but the testing helps researchers identify a biomarker to use for treatment and supports better understanding of MECP2 Duplication Syndrome. First, Charlie had to be screened to ensure he met the inclusion criteria to participate in the study. Then he began the research visits.
Usually, the research visits are minimally invasive and consist of several appointments. Charlie meets with two specialists. A developmental pediatrician administers several standardized measures. In these assessments, I answer questions while Charlie is asked to use items as intended or respond to prompts in developmentally appropriate ways.
Charlie also sees a neurologist, who checks his vitals, discusses medical history and abilities, and performs a physical and neurological exam. During this appointment, I fill out multiple questionnaires to give a snapshot of Charlie’s feelings, communication, and experiences. Charlie has epilepsy, so we fill out a diary to record recent seizure activity and whether rescue medicine or other intervention was necessary.
During each trip, Charlie has blood drawn and participates in an EEG, which measures his overall brain activity and records his responses to visual and auditory stimuli. Unlike a diagnostic EEG, Charlie can wear a special cap for the research. He strongly prefers the cap because the electrodes can be attached to his scalp quickly, avoiding the painstaking and lengthy process of attaching each one individually. Once the cap is in place, Charlie spends about 15 minutes watching videos and listening to a series of beeping sounds.
Some of the testing occurs infrequently. Recently, Charlie participated in a pupillometry test to measure how his eyes reacted to light. A clinician used a small device to record Charlie’s visual response while watching research videos. In one of the early visits, Charlie underwent anesthesia for a lumbar puncture to collect cerebrospinal fluid and a skin sample. Every six months, the lumbar puncture will be repeated.
The appointments keep us very busy, but the study team does their best to make sure nothing is too overtaxing. After each visit, a research coordinator calls to ensure that Charlie is doing well and has not had any adverse reactions to the testing. Each visit usually takes two days, and we repeat the process every three months. The tests are conducted in the same way each time we go so researchers can study the disease over time. Charlie is brave during the testing and usually takes everything in stride. It helps that everyone working on the study treats him with great care. As a parent, I have learned more about my son and MECP2 Duplication Syndrome from participating in the study, and our family is happy to be able to contribute to the research.
