Navigation Links
Edison Pharmaceuticals & Bambino Gesu Children's Hospital Announce Initiation of EPI-743 Phase 2 Cobalamin C Deficiency Syndrome Clinical Trial
Date:2/18/2013

MOUNTAIN VIEW, Calif., Feb. 19, 2013 /PRNewswire/ -- Edison Pharmaceuticals today announced the initiation of a phase 2 clinical trial entitled, "Double-Blind, Placebo-Controlled Clinical Trial of EPI-743 in Patients with Cobalamin C Defect."

The trial is a placebo-controlled study lasting 12 months, preceded by a six-month run-in phase for all patients to establish a defined clinical and metabolic baseline. The primary endpoint is improvement in visual function with secondary outcome measurements assessing neurologic and neuromuscular function, glutathione biomarkers, quality of life, as well as safety parameters. More information on study specifics is available at www.ClinicalTrials.gov.

The rationale underlying this investigation is centered on understanding whether EPI-743 – a therapeutic targeting primary defects in electron transport– might hold therapeutic benefit in disorders of intermediary metabolism that also result in redox disturbances.

"Cobalamin C deficiency represents an inherited disorder that induces perturbations in the metabolism of glutathione. Given the central role of glutathione in cellular redox balance and antioxidant defense systems, we are eager to explore whether a therapeutic that increases glutathione such as EPI-743 will provide clinical benefit," stated Professor Carlo Dionisi-Vici, Division of Metabolism, Bambino Gesu Children's Hospital– the trial's principal investigator. 

Cobalamin C Deficiency Syndrome

Cobalamin C (Cbl-C) defect belongs to the family of diseases known as methylmalonic acidurias and is the most common inborn error of vitamin B12 metabolism. Cbl-C defect is a syndrome that results in multiorgan system disease most significantly impacting the central nervous system. While the clinical presentation can be heterogeneous, the onset of symptoms typically arises within the first year of life and includes seizures, hypotonia, hydrocephalus, developmental delay, and failure to thrive. Visual impairment results from retinal atrophy and oculomotor defects. Cardiovascular disease, hemolytic uremic syndrome, and gastrointestinal involvement may also occur. A smaller subset of patients may present later in childhood or early adulthood and typically have a milder phenotype with neurological and vascular manifestations. 

Cbl-C defect is an autosomal recessive disorder with an estimated incidence of 1:60,000 to 1:100,000. The gene responsible for the Cbl-C defect is known as MMACHC and is located on chromosome 1p. On a biochemical level, the Cbl-C defect prevents the conversion of vitamin B12 into its most important metabolically active forms—methylcobalamin and adenosylcobalamin. This in turn leads to the accumulation of methylmalonic acid and homocysteine as well as to the reduced synthesis of methionine. It is believed that the accumulation of methylmalonic acid and homocysteine, along with reduced synthesis of methionine, results in increased cellular oxidative stress and to perturbation in glutathione metabolism — a critical and endogenous cellular antioxidant. 

Despite existing vitamin replacement therapies, biochemical abnormalities never fully normalize and there is an unsatisfactory impact on the neurologic outcome. 

EPI-743

EPI-743 is an orally bioavailable small molecule being developed by Edison Pharmaceuticals for the treatment of Friedreich's ataxia 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.

Edison Pharmaceuticals
Edison Pharmaceuticals is a specialty pharmaceutical company dedicated to developing treatments for children and adults with orphan mitochondrial diseases.


'/>"/>
SOURCE Edison Pharmaceuticals, Inc.
Copyright©2012 PR Newswire.
All rights reserved

Related medicine technology :

1. Samsung Medison Showcases New Medical Equipment and Technology with Samsung Electronics at RSNA 2012
2. Edison Pharmaceuticals Closes $20M Series F Financing
3. Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Leigh Syndrome Clinical Trial
4. Massive Hiring Event for Life Science Professionals in Edison, NJ on 9/18/12
5. Edison Pharmaceuticals Announces Positive Results of EPI-743 Phase 2A Leigh Syndrome Clinical Trial
6. EMA Grants Orphan Designation to Edison Pharmaceuticals for EPI-743 for Treatment of Leigh Syndrome
7. Carolinas HealthCare System and Edison Nation Collaborate to Drive Medical Innovation and Technology
8. Diabecline Antibiotic Receives Edison Award for Best New Pharmaceutical Product
9. Oramed Pharmaceuticals to Present at the 4th Annual Drug Delivery & Formulation Summit in Berlin
10. Neurim Pharmaceuticals Announces Positive Phase 2 Clinical Trial Results of Piromelatine for the Treatment of Insomnia
11. Cumberland Pharmaceuticals To Announce 2012 Year End Financial Results On February 28, 2013
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/2/2017)... -- The Rebound mobile app is poised to become a ... of prescription drug addiction. The app empowers users to develop ... down their dosage in a safe, controlled manner while maximizing ... first 100,000 people to sign up will enjoy 3 months ... ...
(Date:9/25/2017)... , Sept. 25, 2017   Montrium , ... File solutions, today—from the IQPC Trial Master Files ... , NL)—announced that EastHORN Clinical Services has selected ... programs and TMF management. EastHORN, a leading European ... platform to increase transparency to enable greater collaboration ...
(Date:9/19/2017)... , Sept. 19, 2017 HistoSonics, Inc., a venture-backed medical device company developing a ... targeted tissues, announced three leadership team developments today:   ... ... ... Veteran medical device executive Josh Stopek , ...
Breaking Medicine Technology:
(Date:10/13/2017)... ... October 13, 2017 , ... The Visiting Nurse Association (VNA) of Somerset Hills ... specialty vendors and unique items from across the nation, this holiday-themed event will raise ... offered by the VNA. The boutique will be open Saturday, November 4 (10:00 ...
(Date:10/13/2017)... ... 13, 2017 , ... Talented host, actor Rob Lowe, is ... a new episode of "Success Files," which is an award-winning educational program broadcasted ... each subject in-depth with passion and integrity. , Sciatica occurs when the sciatic ...
(Date:10/12/2017)... Del. (PRWEB) , ... October 12, 2017 , ... ... and advisory services for healthcare compliance program management, will showcase a range of ... National Association for Assisted Living (NCAL) Convention and Expo to be held October ...
(Date:10/12/2017)... ... 2017 , ... IsoComforter, Inc. ( https://isocomforter.com ), one of the ... new design of the shoulder pad. The shoulder pad provides optimal support and ... pain while using cold therapy. By utilizing ice and water that is circulated from ...
(Date:10/12/2017)... , ... October 12, 2017 , ... ... Hair Restoration, has recently contributed a medical article to the newly revamped ... Dr. Mohebi’s article spotlights the hair transplant procedure known as Follicular Unit ...
Breaking Medicine News(10 mins):