Dedicated to deliver innovative, disease modifying therapies for patients with mitochondrial disorders
From the beginning, working in collaboration with the dedicated advocacy groups, patients and their families, providers and researchers has given us perspective about living with mitochondrial disease and a deep understanding of its course.
The voices of patients are reflected in every step of our journey and inspire our devotion to the cause.
Mitochondrial Augmentation Therapy (MAT) is now being evaluated in a clinical trial for Pearson Syndrome: an ultra-rare mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death.
Details about the ongoing clinical study, “Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous CD34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome”, are available here: https://clinicaltrials.gov/ct2/show/NCT03384420?cond=Pearson+Syndrome
Sheba Medical Center: graded as one of the top hospitals in the world, is the clinical site for our Phase I/II clinical trial of Mitochondrial Augmentation Therapy (MAT) in Pearson syndrome. The study is led by co-Principal Investigators, Professor Amos Toren M.D., Ph.D., MHA, Head of the Division of Pediatric Hemato-oncology, and Elad Jacoby, M.D., Head of the Pediatric Immunotherapy Center. Sheba Medical Center staff have treated 7 patients with MAT on a Compassionate use basis program, through which four children with Pearson syndrome, two patients with Kearns-Sayre syndrome and one patient with Leigh syndrome were treated. Data from the Pearson and KSS patients was used to plan the Phase I/ II trial currently underway, and its results were presented at the annual meeting of the American Society of Hematology (ASH) in San Diego, December 2018, and highlighted during the “Best of Ash” presentation.
Patients’ advocacy organizations are dedicated to support patients, families and caregivers throughout their life journey from diagnosis to living daily with mitochondrial diseases by providing tools and knowledge, creating supportive communities that feels like home to many.
Patients’ advocacy groups are working closely with researchers, regulators and industry to advance development of therapies to patients. Patient registries are one of the tools that have the potential to become a comprehensive database that serves to profoundly educate about the disease and its nature.
In 2020, The Champ Foundation launched the Champ Foundation Registry (CFR) to provide a robust, accessible dataset to families, researchers, clinicians, and companies fighting single large-scale mitochondrial DNA deletion (SLSMD) disorders. To learn more and register, visit: https://cfr.thechampfoundation.org/