For several years, We have heard about Dr.Brendan Lee’s study for the possible use of Phenylbutyrate or Buphenyl in MSUD. He has spoken about it at several MSUD conferences and there have been several articles in the newsletter regarding research project. I am happy to inform you that the study is currently underway.
On Dec 19th, 2012 my son, Jordan age 23 with Classic MSUD, and I traveled to Houston to Texas Children’s Hospital so that he could participate in the study.We were fortunate that Sharlene Balinsky,MSUD adult, from Montreal, Canada was in Houston at the same time for the study. It was great to spend time with Sharlene.
Prior to traveling to Houston, we worked closely with Dr. Lee’s research nurse, Mary Mullins and her assistant Alyssa Tran, to get the necessary documents and travel arrangements completed. The cost of airfare to travel to houston is either covered by Mercy Medical Airlines or through Dr.Lee’s research budget. There is no cost to the study participant.
Jordan and I left on Wed Dec 19th and arrived in Houston late that night. We stayed overnight at the Holiday Inn Medical Center which is one block from Texas Children’s. Thursday morning, we took the hotel shuttle to the hospital. He was admitted to the GCRC (General Research Center) at Texas Children. The first day of the study was fairly simple and only took about 6-8 hours to complete. A history and physical was done by the MDs involved in the study.In addition, his vital signs including height and weight were recorded and blood and urine tests were done. There were several papers to sign and Jordan was instructed on how to take the drug or placebo and how to use the scales that were provided to measure out the medicine. Jordan took his first dose of the drug or placebo with his lunch that day. (Neither the drug or placebo taste very good and the staff have suggestions about how to disguise the taste) Study partici- pants will receive both the drug and the placebo, but they will not be told which they are taking (a placebo is a “fake drug”). None of the research staff, except the pharmacist involved in the study, is aware of what the participant is taking either. Jordan was discharged from the GCRC at 2PM that day and we headed back to Columbus.
For the next two weeks, Jordan took the medication three times daily. Both the drug and the placebo come in a powder form from that is mixed with fluid such as apple juice. In addition to the study drug,Jordan also took Zantac,which was provided by the research team, twice daily to prevent an upset stomach or heartburn. He was given some paperwork to complete which included recording whether or not any drug doses were missed. He also documented what he ate and drank the last three days of the two week trial.
On January 3rd we returned to Houston to the GCRC for the next phase of the the study. He was admitted for 24 hours. Initially an IV was inserted so that the staff had access to his veins and he would not have to be stuck frequently. Blood was drawn at various intervals through the IV and all of his his urine was collected for a 24 hour period. The staff followed a specific schedule of blood draws , and informed Jordan when to drink his formula and eat meals and snacks. Jordan worked closely with the research dietitian, Ann to determine what foods he should be served. He was given his normal leucine diet of foods that he liked and appropriate snacks. In addition, He continued to take the study drug or placebo during this visit. He was discharged Friday morning Jan. 4th and we traveled back to Columbus.
Sharlene chose to complete the next phase of the study at this time. She was given the opposite drug of what she took previously and will travel back to Houston for another 24 hour stay after taking it for two weeks. Jordan chose to complete the rest of the study when he breaks from school in May. We will travel back to Houston so that we can obtain the opposite drug of what he took initially. Further blood and urine tests will be done a t that time to evaluate his response to the medication.
I had an opportunity to meet with Dr.Lee and several of the research team during our trip to Houston. He shared with me that he would like to enroll 10 people in the study by the end of spring 2013. Initially his priority would be to enroll those that presented late (variant MSUD) or those with the E2 gene mutation. For those that participate in the study, I would encourage you to have extra space in your luggage for the scale that Mary will be sending home with you.Even if you have your own gram scale, she would like you to use the one that she provides. It is important that there not be many variables in the study that could make a difference in the outcome and that involves keeping as many things as possible the same for each participants, including the scale that is used to weight the drug.
One benefit to the study that Jordan had not anticipated is that participants are paid $200 after completing each phase of the study for a total of $400
I assumed that I was going to have to use my vacation time travel with Jordan to Houston. I was thankful that my boss contacted our HR department and inquired whether or not traveling to Houston for the research study could be considered as FML (Family Medical Leave) I was thrilled when they said that it did qualify as FML. I was paid from my sick time while I was off rather than from my vacation time. I wanted to share this as it may make it easier for others to participate in the study or travel with a loved one who is participating.
The accommodations at the GCRC at Texas Children’s were comfortable. Jordan slept in a hospital bed and I slept in a hospital bed and I slept on the cot/pull out couch in the room. We had a bathroom in our room with a shower. I was given food vouchers worth $30 for the food court nearby.
When we returned from Houston, I was asked Jordan if he thought that it was worth it and he said,”Yes it was very interesting” We don’t have any way of knowing whether or not the drug will benefit him personally in the future, but I am confident that the knowledge gained from this study will benefit the MSUD community. For those of you that are not familiar with the drug Buphenyl, it was FDA approved for the treatment of another group of metabolic disorders called Urea Cycle Disorders years ago. Buphenyl has the side effect of lowering leucine, isoleucine,and valine and their ketoacids in some people with MSUD. The hope is that the drug will allow for a liberal diet for some as well as protect the brain during times of illness.
Review of Our Trip to Houston For the Buphenyl Study
- Written by Sandy Bulcher