Current Studies

MELTIMI (MELAS Trial of Idebenone using MRS)

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)

Study Purpose:
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) is a multi-system disorder that can cause exercise intolerance, migraines, gastrointestinal issues, memory loss, seizures and strokes. MELAS is caused by a mutation in mitochondrial DNA. The most common mitochondrial mutation causing MELAS is the A3243G mutation. The purpose of this clinical trial is to determine whether a medication called Idebenone has an effect on brain lactate as measured by magnetic resonance spectroscopy (MRS). MRS is done in an MRI scanner, and is safe and typically well tolerated. An additional goal is to study the safety and tolerability of Idebenone in people with MELAS.

Idebenone:
Idebenone is thought to improve energy production in mitochondria, the powerhouses of the cell. It is also thought to defend against free radicals that can cause damage in mitochondrial disease. It has improved neurological function in other mitochondrial diseases such as Friedreich’s ataxia. The study drug is an experimental medication, and it is hoped that this trial will be a first step towards approval by the Food and Drug Administration (FDA), a prerequisite for making it available to patients in this country.

Study Type: Clinical Trial

Official Title: MELTIMI Study (Idebenone and MELAS)

Estimated Enrollment: 21

Study Start Date: May 2009

Eligibility:

Inclusion Criteria

  • Ages: 8 to 64 years old
  • Gender: male and female
  • Genetic requirement: carrier of A3243G mitochondrial DNA mutation
  • Body Weight: at least 82 pounds

Exclusion Criteria (not eligible to participate)

  • Unable to have MRS (choclear implant, inability to lie still for 45 minutes, etc)
  • Patient is pregnant
  • Use of Idebenone at any dose, or CoQ10 at more than 100mg/day within a 1 month period prior to baseline
  • Clinically significant laboratory abnormalities (study doctor will determine)
  • Use of other clinical trial investigational drugs within a 1 month period prior to baseline

Study Medication:

  • Participants will be randomized to one of two doses of Idebenone or to placebo ( a pill that looks like Idebenone but contains no Idebenone)
  • Participants will take the study medication (Idebeonone or placebo) for 1 month.
  • In other disease, Idebenone has been safe and well tolerated.

Time and Travel Commitment:

  • Take study medication for 1 month
  • Participants will travel to NYC 2-3 times over a period of 14 weeks for research visit
  • Reimbursement for transportation and hotel will be provided

Contacts and Locations:

Kris Engelstad, Study Coordinator
Phone: 1-212-305-6834
E-mail: ke4@columbia.edu; melas@columbia.edu
Location: Columbia University Medical Center
Clinical Research Center for Mitochondrial Disorders
The Neurological Institute
710 W. 168th St, Box 68
New York, NY 10032

Publications: Our publications regarding MELAS are located in the “Publications” section of this website.

» download consent form. This consent form is solely for information to help you decide whether you want to participate in the MELTIMI study. Should you choose to participate, you will be requested to sign and date a current consent form, which may be slightly different than the consent shown here.


MELAS

Natural History Study – Mitochondrial Encephalomyopathies Associated with MtDNA Point Mutations

Status:

Open for Enrollment

Mitochondrial and Mental Retardation: Investigations of Clinical Syndromes Associated with MtDNA Point Mutations

The Natural History Study is an ongoing study that involves participants that have point mutations in mitochondrial DNA (mtDNA). These mutations affect the genetic material contained in the mitochondria of the cell. Mitochondria, often called the “powerhouse” of the cell, are small structures within cells that provide the energy necessary to power growth and change over time. The purpose of this study is to better characterize mitochondrial disorders as they present over time in participants. Through this study we hope to determine whether mtDNA point mutations produce any measurable disturbances of thinking, attention, intelligence, behavior, or neurological functioning. Eligible participants must have a proven mitochondrial point mutation. Some or all participants may represent members of a single family because mtDNA point mutations are inherited from one’s mother. Fathers and other paternal family members may also be invited to participate as control subjects.

Subjects are asked to return to our center, usually on a yearly basis, for ongoing evaluation and comprehensive care.

Study Team:

Contact Kris Engelstad (ke4@columbia.edu)


GLUT-1

Natural History Study – Neuroglycopenia: Glut-1 Deficiency Syndrome (GLUT-1 DS)

Status:

Open for Enrollment

Neuroglycopenia, also known as GLUT-1 Deficiency Syndrome (Glut-1 DS), is a disorder that interferes with the functioning of glucose transport proteins. These proteins are responsible for transporting glucose into the brain from the blood. When these transport proteins are not working properly, decreased amounts of glucose are available to the brain. Because glucose is the primary essential fuel for the developing brain, inadequate supplies of it can result in physical and cognitive difficulties. The purpose of this study is to examine the nature of these difficulties. Through this study we hope to determine the types of DNA mutations that cause this disease, how the glucose transporters are affected, and how the brain responds to these mutations. We plan to do this by studying the brain’s electrical activity, structure, and function. In this study we will evaluate language skills, attention, behavior, and neurological functioning. Eligible participants in this study are suspected of having neuroglycopenia.

Subjects are asked to return to our center, usually on a yearly basis, for ongoing evaluation and comprehensive care.

Study Team:

Contact Kris Engelstad (ke4@columbia.edu)