Needed: Healthy Adults and Children for MELAS Clinical Trial in Houston

During the UMDF conference (which I am way behind on posting about) there was a presentation on clinical trials. It's been a big topic of discussion in the mito community and one of the biggest points that was made by all those who presented is the need for patients of all ages - both healthy and diagnosed - to participate.
 
One doctor in particular, Dr. Fernando Scaglia, at Texas Children's Hospital has a few research trials on MELAS. Mitochondrial Myopathy (muscle weakness), Encephalopathy (brain and central nervous system disease), Lactic Acidosis (buildup of a cell waste product), and Stroke-like Episodes (partial paralysis, partial vision loss, or other neurological abnormalities). MELAS is a progressive neurodegenerative disorder with typical onset between the ages of 2 and 15, although it may occur in infancy or as late as adulthood. Initial symptoms may include stroke-like episodes, seizures, migraine headaches, and recurrent vomiting.

The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. Death may come as a result of general body wasting due to progressive dementia and muscle weakness, or complications from other affected organs such as heart or kidneys. Here is more info on MELAS from the UMDF.

Dr. Scaglia is doing a clinical trial to see if a new treatment would be viable for MELAS patients. Here is a link to ClinicalTrials.gov with details on the trial.
 
What is the purpose of this study? The purpose of this study is to measure nitric oxide in individuals with MELAS syndrome and see if giving arginine or citrulline will increase the formation of nitric oxide. MELAS syndrome is a mitochondrial disease; patients with this disease have muscle weakness and often develop brain strokes, where blood does not flow normally to different parts of the brain. It is believed that these strokes could be due to decreased production of nitric oxide in individuals with MELAS.

 

Nitric oxide is a naturally occurring compound in the human body. It is also made from other common compounds, arginine and citrulline, that are normally found in our bodies. Nitric oxide is thought to be helpful in improving blood vessel function and preventing strokes. Therefore, if arginine and/or citrulline are shown to increase the formation of nitric oxide, they could be used to prevent or treat the strokes in patients with MELAS syndrome.

His team is in need of HEALTHY kids to participate as control patients. Here is some information:

Children (healthy children 3-18 years old) will be admitted once to the Clinical Research Center (CRC) at Texas Children's Hospital in the Texas Medical Center. They will stay for 3 days, during which a special diet will be provided. Nitric Oxide (NO) production will be measured by a safe stable isotopes infusion technique on day 3. This involves placing small tubes in veins (IV catheter), blood sampling from the IV catheters, and injecting a harmless stable isotope. Stable isotopes are forms of normal compounds that can be measured very accurately but not radioactive. There are no known risks to giving them and they are already a part of your body in small amounts. The children will be able to play and do their regular activities on days 1 and 2 with the exception of being on a low protein diet. If anyone chooses to do this, I will come visit and bring some fun stuff that tends to occupy Will in the hospital.

So essentially, your child will eat a good, controlled diet, stay in the fabulous accommodations of Texas Children's, get some IVs done and blood work, and the best part is you could help further develop or find a treatment or cure for not just MELAS kids, but others with mitochondrial disease.
 
Obviously if you are considering this, you would likely have a lot of questions that I won't be able to answer. If you are interested, even slightly, please contact Sirisak Chanprasert chanpras@bcm.edu, Lisa Emrick emrick@bcm.edu or Fernando Scaglia fscaglia@bcm.edu,

I realize that likely no one will want to give up their vacation time or put their child through a not necessary hospital stay, but I want to point back to the fact that if people do not ever participate in clinical trials, we'll never have viable treatments or a cure. Staying in a hospital is never our first choice, having spent too much time in hospitals, I know this is a huge sacrifice. So thank you in advance for considering.

Don't worry healthy adults, you too could participate in a clinical trial! Glucose kinetics in subjects with MELAS syndrome. Here is some more information:
 

Introduction

Baylor College of Medicine and Texas Children’s Hospital are recruiting ADULT subjects with MELAS syndrome for a clinical study. Mitochondria are cell structures that provide energy for most cells of the body. MELAS syndrome is a mitochondrial disease; patients with this disease have muscle weakness and often develop brain strokes. About one third of individuals with MELAS syndrome also have diabetes. Diabetes develops when the body cannot digest sugar (glucose) appropriately. It is not known why people who have MELAS syndrome develop diabetes.

What is the purpose of this study?

The purpose of this study is to see how the body handles sugar by measuring the amount of sugar that the body produces and breaks down (glucose metabolism). The results from people who have MELAS syndrome will be compared to those from people who do not have MELAS syndrome. By doing this comparison we may find that people with MELAS syndrome handle sugar differently, which would explain why many develop diabetes. A better understanding of how diabetes occurs in people who have MELAS syndrome can give more information about diabetes and help in choosing the right treatment in people with MELAS syndrome.

What does the study involve?
Healthy controls will be admitted once to the General Clinical Research Center (GCRC) at Texas Children's Hospital and stay for two days. Glucose metabolism will be measured by a safe stable isotope infusion technique that involves placing small tubes in veins (IV catheter), blood sampling, and injecting a harmless stable isotope. Stable isotopes are forms of normal compounds that can be measured very accurately but not radioactive and there are no known risks to giving them; they are already part of your body in small amounts.  

Who can participate in the study?

Healthy adults ages 18-64 who do not have a diagnosis of Diabetes Mellitus.

 

Subjects interested in participation or getting more information can contact Dr. Lisa Emrick at email: emrick@bcm.edu, office phone: 832-822-4289.

If you made it all the way through this post, thank you. I know it's a lot of information and words may be unfamiliar. I can say from our experiences being inpatient that besides worrying about Will, the experience is not terrible. Thank you so much for considering helping out other mito kids!

Waiting for new tires at Discount Tire... at least a hospital has a comfortable chair instead of recycled tires!