HOUSTON, Texas (Ivanhoe Newswire) – MELAS syndrome is an extremely rare genetic condition that affects many systems in the body, particularly the brain, nervous system, and muscles. Symptoms usually begin in childhood but can start at any age. Now, a clinical trial is underway to prevent one of the most common symptoms that begin in adulthood.
“Mitochondria are the energy factories of the cells. They produce the energy, or ATP, that our cells and tissues use to carry out their tasks,” explains Dr. Fernando Scaglia, professor in the Department of Molecular and Human Genetics at the Baylor College of Medicine and Texas Children’s Hospital.
But with MELAS syndrome, there’s a breakdown in that process, causing a range of symptoms.
Dr. Scaglia further explains, “At the milder end of the spectrum, patients may have short stature and then, they will have hearing loss.”
Common early symptoms include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most patients with MELAS syndrome begin experiencing stroke-like episodes, where there’s temporary muscle weakness on one side of the body, altered consciousness, and vision abnormalities, beginning between the ages of 20 and 40. Previous studies show that a lack of the compound nitric oxide may be the reason behind these strokes. But researchers have found one protein that may restore the compound.
“Two building blocks of proteins, two amino acids, arginine and citrulline. Both of them restored the production of nitric oxide,” Dr. Scaglia mentions.
So far, researchers have found citrulline was more effective at repairing those levels and are now conducting a trial to see what is the safest maximum dose that can benefit patients and reduce their risk for stroke-like symptoms.
During the phase one safety study, participants will be required to take oral citrulline for a month and will be followed for an additional month after treatment.
Contributors to this news report include: Milvionne Chery, Producer; Bruce Maniscalco, Videographer; Roque Correa, Editor.
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TOPIC: MELAS: STOPPING THE STROKE-LIKE SYNDROME
REPORT: MB #5061
BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, otherwise known as MELAS, is an extremely rare genetic condition that begins in childhood.
The disorder affects many areas of the body, especially the brain and nervous system and muscles. MELAS is also characterized by a buildup of lactic acid in the body as well as stroke-like symptoms, such as temporary muscle weakness. The condition is caused by a change in one of several genes that help create mitochondria, cell structures that convert food into energy.
DIAGNOSING: Symptoms of MELAS syndrome usually begin between the ages of two and 15 years, but delayed onset cases have also been reported between fifteen and forty years and late onset cases after forty years. In about 75 percent of cases, onset of the disorder is before the age of 20 years. Symptoms and physical findings associated with MELAS syndrome vary greatly between affected individuals in the same family and between different families. The distinguishing feature in MELAS syndrome is the recurrence of stroke-like episodes. It is currently thought that the deficiency of a compound called nitric oxide in the small blood vessels of the brain may be responsible for the stroke-like episodes. Short stature and hearing loss may be present and fatigue and difficulty tolerating exercise may be early symptoms.
NEW STUDY: Doctor Fernando Scaglia, MD, Professor at Baylor College of Medicine
says that participation in clinical trials is key to providing answers to patients and families with MELAS disorders. Dr. Scaglia says it’s difficult to recruit patients for rare disorders because the numbers are not as large as for other conditions, but that is why a clinical trial is key, because it really moves studies beyond an anecdote. Dr. Scaglia says relying on provided medications based on anecdotes, is a disservice to the community and it’s a disservice to patients and their families. This is why Dr. Scaglia has multiple trias that have enrolled patients in them in order to study MELAS.
(Source: Fernando Scaglia, MD)
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