Clinical Trials and Studies for Mitochondrial Disease
MitoAction would like to help patients with mitochondrial disorders to be able to participate in relevant research studies and clinical trials. Check back often for updates.
To submit a study or trial, PI's can email an IRB approved proposal to email@example.com, or mail to Cristy Balcells RN MSN PO Box 51474 Boston, MA 02205.
Edison Pharmaceuticals Announces Positive Results of EPI-743 Phase 2A Leigh Syndrome Clinical Trial
MOUNTAIN VIEW, Calif., Sept. 13, 2012 /PRNewswire/ -- Edison Pharmaceuticals today announced positive results of a recently completed phase 2A study entitled, "Prospective Open Label Study of EPI-743 in Children with Leigh Syndrome (Subacute Necrotizing Encephalomyelopathy)." The study was conducted at the Ospedale Pediatrico Bambino Gesu– the Vatican's children's hospital, Rome, Italy.
Ten children with seven differing subtypes of Leigh syndrome, ranging in age from 1-13 years, were treated with EPI-743. All ten children exhibited reversal of disease progression as measured by four different disease-relevant metrics. The clinical response was durable over 180 days. No significant safety events were observed.
The results of the clinical trial were published on-line September 10, 2012 in the journal Molecular Genetics and Metabolism.
Findings obtained in this prospective phase 2 controlled study confirm previous clinical results obtained in the United States and Europe.
Leigh syndrome is an inherited lethal, progressive, predominately pediatric, neuromuscular disorder for which there are no approved treatments. Initially described in 1951, the hallmarks of the disease include bilateral necrosis (death) of central nervous system regions responsible for the control of breathing and other neurologic functions. Leigh syndrome belongs to a large family of disorders identified as "mitochondrial disease." The disorders share as a common biochemical feature defects in cellular energy metabolism.
EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of Leigh syndrome and other inherited mitochondrial diseases. EPI-743 is a member of the para-benzoquinone class of drugs. It serves as a cofactor for the novel drug target – NADPH quinone oxidase 1 (NQO1). Through a redox-based mechanism, EPI-743 augments endogenous glutathione biosynthesis– essential for the control of oxidative stress.
Results obtained in this trial represent the first published report of disease reversal in an otherwise progressive and fatal neurological disease.
Edison Pharmaceuticals is a specialty pharmaceutical company dedicated to developing treatments for children with orphan mitochondrial diseases.
Please join MitoAction on Oct. 5 at 9 am PDT/noon EDT for a webinar and Q&A with Dr. Guy Miller and Dr. Greg Enns for more information.
Edison Pharmaceuticals to provide expanded access to EPI-743 for mitochondrial disease
Click here to learn more.
Mayo Clinic BioBank seeking assistance
A new research resource at Mayo Clinic in Rochester, MN -- the Mitochondrial Disease Biobank -- is the first biobank in the country specifically developed to study mitochondrial diseases. Mayo Clinic is collaborating with MitoAction in hopes of identifying individuals who may be interested in participating in the Biobank.
In general, individuals who have or are suspected to have a mitochondrial disease are eligible to donate to the Mitochondrial Disease Biobank. Their family members may also be appropriate participants. Click here for more information.
North American Mitochondrial Disease Consortium Registry
The University of California-San Diego and Columbia University are currently approved to recruit patients for participation in the first mitochondrial disease consortium registry. There will be multiple sites in the United States and Canada participating in this registry but right now only UCSD and Columbia University have Institutional Review Board Approval to begin recruiting patients for this groundbreaking opportunity. Due to the time demands for this research protocol, 100 patients need to be recruited by June 15. Dr. Richard Haas is the Principal Investigator at UCSD; Dr. Michio Hirano at Columbia.
Contact Gail Reiner, MS, FNP-c, research coordinator, at firstname.lastname@example.org, for more information.
Current Trials and Studies
Columbia University seeking patients with MELAS to participate in a clincial trial of idebenone (click to link for more information)
Pilot Study on Executive Function and Adaptive Skills in Adolescents and Young Adults with Mitochondrial Disease