Pearson syndrome is a rare and often fatal genetic disorder that usually begins in infancy. It is caused by a deletion of the mitochondrial DNA and is characterized by problems in the bone marrow and pancreas. Children affected by Pearson syndrome usually require frequent blood transfusions, pancreatic enzyme replacement, and many types of therapies.
According to Yivigi Ohana, Ph.D., Co-Founder and Chief Executive Officer of Minova, “The trial of MAT in Pearson Syndrome is an important step toward addressing mutations and deletions of mitochondrial DNA, because there are many other mitochondrial diseases with no available therapies. If it is successful, it will not only provide improved quality of life for those living with Pearson syndrome; it could pave the way for the development of treatments for all mitochondrial diseases.” The treatment includes transplantation of cells enriched with maternal blood-derived mitochondria.
The clinical trial has already begun with three children with Pearson syndrome who have been treated under compassionate use, and one patient who was dosed under a Phase I/II trial. The trial will include seven children in total, who will receive single doses to ascertain the safety and effectiveness of the treatment. The outcome of the trial will be determined after one year, when the patients are assessed for adverse events, improvement in the quality of life, and changes in cognitive and muscle function.
“Our vast clinical and lab experience with stem cell transplantations and cellular therapies enabled a smooth and uneventful entrance to the project,” said Professor Amos Torren M.D., Ph.D., MHA, Head of Sheba Medical Center’s Division of Pediatric Hemato-Oncology and principal investigator of the study. Dr. Torren and Elad Jacoby, M.D., head of pediatric immunotherapy center, report that they are encouraged by the improvement that they have already seen in the patients treated under compassionate use.
Mitochondrial cell therapy treatment is among many historical medical discoveries that regularly emerge from Sheba Medical Center and its distinguished partners.