MELAS Syndrome Overview
Learn About MELAS Syndrome
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).
MELAS can result from mutations in one of several genes, including MT-ND1, MT-ND5, MT-TH, MT-TL1, and MT-TV. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.
The exact incidence of MELAS is unknown. It is one of the more common conditions in a group known as mitochondrial diseases. Together, mitochondrial diseases occur in about 1 in 4,000 people.
This condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Ayman El-Hattab is a Medical Genetics specialist and a Pediatrics provider in Columbia, Missouri. Dr. El-Hattab is rated as an Elite provider by MediFind in the treatment of MELAS Syndrome. His top areas of expertise are MELAS Syndrome, Neu Laxova Syndrome, Primary Carnitine Deficiency, and Microcephaly.
Baylor College Of Medicine
Fernando Scaglia is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Scaglia is rated as an Elite provider by MediFind in the treatment of MELAS Syndrome. His top areas of expertise are MELAS Syndrome, Hypotonia, Primary Carnitine Deficiency, and Leigh Syndrome. Dr. Scaglia is currently accepting new patients.
Texas Childrens Physician Group
William Craigen is a Pediatrics specialist and a Medical Genetics provider in Austin, Texas. Dr. Craigen is rated as an Elite provider by MediFind in the treatment of MELAS Syndrome. His top areas of expertise are MELAS Syndrome, Citrullinemia, Mitochondrial Complex 1 Deficiency, and Propionic Acidemia.
Summary: PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs. placebo when administered daily for 12 weeks in participants with genetically and phenotypically defined MELAS.
Summary: This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of investigational product (TTI-0102 or placebo). At the end of the first week of treatment, subjects will return for a Week 1/Day 8 study visit to assess study drug dosing/tolerance and ...
Published Date: December 01, 2013
Published By: National Institutes of Health