Mitochondrial Disease Pediatric Research and Clinical Trials

Research is essential in developing and testing better treatments for mitochondrial disease. At Boston Children’s Hospital, this research is proceeding on several fronts.

Experimental medication: dichloroacetate

We offer an experimental medication, dichloroacetate (DCA), to patients whose mitochondrial disease has caused lactic acidosis, a condition in which there is too much lactate in the blood and spinal fluid. DCA can lower lactate levels and potentially relieve a child’s symptoms. Boston Children’s is one of only a few institutions in the United States where the use of DCA is approved.

Boston Children’s is also participating in a Phase 3 multicenter trial of DCA for pyruvate dehydrogenase deficiency, a type of mitochondrial disorder in which buildup of lactate leads to neurologic problems.

Genetic discovery

In collaboration with Pankaj Agrawal, MD, from the Manton Center for Orphan Disease Research, we are seeking to identify novel (previously unknown) mutations that cause mitochondrial disease in humans.

Modeling mitochondrial heart disease

In collaboration with the Harvard Stem Cell Institute and the Wyss Institute, Boston Children’s researchers are using induced pluripotent stem cells (iPS cells) from patients with Barth syndrome, a mitochondrial disorder affecting the heart, to create a “heart on a chip.” This model has provided new clues about how the mutation that causes Barth syndrome weakens heart muscle and potential ways to reverse the problem.

Modeling Pearson marrow pancreas syndrome

Pearson marrow pancreas syndrome is an extremely rare mitochondrial disorder that causes severe anemia by impairing development of blood-forming cells in the bone marrow. A team at Dana-Farber/Boston Children's Cancer and Blood Disorders Center is using iPS cells from children with this disorder to create blood cells that can be studied in the lab. These cells may help them understand how the mutation in mitochondrial DNA occurs and causes disease, and may suggest ways to treat it.