Anyone interested in learning about the status of clinical trials involving EPI-743 should click HERE.  You will be redirected to www.clinicaltrials.gov.

Latest news on EPI-743

February 5, 2014
The nation’s leading mitochondrial disease patient advocacy organizations have joined together to congratulate Edison Pharmaceuticals in their announcement of a nearly $4.3 billion strategic partnership with Dainippon Sumitomo Pharma Co., Ltd. of Japan. The Mitochondrial Disease Action Committee (MitoAction) and the United Mitochondrial Disease Foundation (UMDF) believe that the partnership between the two pharmaceutical companies is monumental for the mitochondrial disease patient community.

The partnership enables Edison to have the resources to bring drugs specifically created for pediatric mitochondrial disease patients, like EPI-743, to the marketplace. The partnership also enables both companies to research, develop, and build a pipeline containing 10 new drugs targeting various aspects of cellular energy metabolism. Those efforts will allow the two companies the ability to target adult neurological diseases that also directly impact the mitochondrial disease adult community.

Edison Pharmaceutical CEO, Dr. Guy Miller, joined the UMDF and MitoAction for a joint conference call to discuss this strategic partnership on February 5, 2014.
You can hear that conference call right here.

Previous Information

As of August of 2013, we are excited to share that the enrollment criteria for the EPI-743 trial
has been expanded!    More children are immediately needed to complete this study.

If your child or patient is under the age of 18 and has been diagnosed with Leigh Syndrome (Leighs Disease), please consider
joining the EPI-743 clinical trial.  CONTACT THE EPI-743 HOTLINE FOR MORE INFORMATION 1-800-243-0254

Edison is actively recruiting children under the age of 18 years old with Leigh syndrome for a trial of EPI-743.
This is a randomized, double-blinded, and placebo-controlled trial using a novel drug, alpha-trocotrienol quinone (EPI-743).
During the first six months of the trial, children are randomized to receive the active agent or placebo. During the next six months,
those on placebo are randomized to one of two dosages of the active agent (and those on the active agent remain on the active agent).
Neither the patient nor doctor will know during the first six months if the child is on EPI-743 or a placebo. A computer performs the randomization.

The Italian experience in children with genetically confirmed Leigh Syndrome treated in an open label study is
published and you can read the basic information about this study at this website:http://www.ncbi.nlm.nih.gov/pubmed/23010433
Improvement in function was noted in 10 consecutive patients.

Edison is looking for candidates who can travel to one of the four centers. All study expenses are covered.
We ask that you consider this trial. If you have any questions please feel free to contact Edison.

The major eligibility requirements include:

Age 0-18 years

Clinical diagnosis of Leigh Syndrome

-Confirmed Genetic mutation known to cause Leigh Syndrome (suggested but not required to participate)

MRI confirms Leigh syndrome

Progression within the last 12 months but stable respiratory status and never trached

Full information about this trial with institutional contact information, inclusion and exclusion criteria as well as outcome measures is available at:http://clinicaltrials.gov/ct2/show/NCT01721733?term=EPI-743&rank=2

Information from 2012
Click to listen.



Edison Pharmaceuticals Announces Initiation of EPI-743
Phase 2B Friedreich’s Ataxia Clinical Trial.

Resources for EPI -743

As a patient advocacy group, the UMDF continues to share information and resources about EPI-743 as well as all clinical trials that will benefit patients/families around the world.

For a summary on EPI-743, please click here.

For additional information, please visit Edison Pharamcueticals here.

To locate the most recent clinical trial information about EPI-743, click on this link and type
EPI-743 in the search box.

Participating Sites and Resources
The UMDF, MitoAction, and Edison Pharma staff have been working together on developing a direct line of resources to those interested in participating in the study. If you and/or an affected family member is interested in the study, please click the site closest to you for contact information. Should you be selected/approved for the study by the investigator, the UMDF has also pulled together funding/travel resources to assist you and your family.

Participating Sites for EPI-Leigh’s Syndrome Clinical Trial

Akron Children’s Hospital
Akron, OH
Contact Hilary (Wolf) Tonni at htonni@chmca.org

Lucile Packard Children’s Hospital, Stanford University Medical Center
Palo Alto, CA
Contact Katherine Connors at kconnors@stanford.edu

Seattle Children’s Hospital
Seattle, WA
Contact Laurie Guidry at laurie.guidry@seattlechildrens.org

Texas Children’s Hospital
Contact Catherine Loffredo at catherine.loffredo@bcm.edu



Investigator: Susan L. Perlman
Clinical Prof. of Neurology; Director, Ataxia Center and HD Center of Excellence
300 UCLA Med Plaza
Los Angeles, CA 90095
(310) 794-1195
Email: SPerlman@mednet.ucla.edu
Site Coordinator: Tarshia Nulliah
Phone: not available
Fax: not available
Email: not available

Los Angeles Ronald McDonald House
4560 Fountain Avenue
Los Angeles, California 90029
Phone: 323.644.3000
Fax: 323.669.0552

Ronald McDonald House is one of the largest Ronald McDonald Houses in the world with 75 rooms and we have served families from every state in the country and 44 different countries around the world.






Investigator: Gregory M. Enns, MB ChB
Associate Professor and Director of Biochemical and Genetics Program
Phone: (650) 498-5798

Site Coordinator:  Katherine Connors, MPH
Sr. Clinical Research Coordinator
Spectrum Child Health – Genetics
Stanford University School of Medicine
300 Pasteur Drive, H-315 (Rm A071)
Stanford, CA 94305-5208
Tel: 650-736-8166
Fax: 650-498-4555

Hotels with Stanford patient rates found here: http://stanfordhospital.org/forPatients/lodgingFood/contractedRateHotelProgram.html









Investigator: Bruce Cohen, MD, FAAN
Director of Pediatric Neurology; Professor of Pediatrics
1 Perkins Square
Akron, OH 44308-1062

Site Coordinator: Hilary Wolf
Phone: 330-543-3193
Fax: 330-543-3166
Email: hwolf@chmca.org
Hospital Study Line: 330-543-5012 (Voice mail, will be transferred to Hilary on the next business day.)

Hospital Information:
One Perkins Square
Akron, Ohio 44308
Website : www.akronchildrens.org -or-
https://www.akronchildrens.org/cms/your_visit/ accommodations and parking info.

Local Resources: Contact Millie Sweatt, Social Worker, at 330 543-8861 for Ronald McDonald House info (pediatric and adult patients) and possible gas vouchers, if there is a financial need.

Ronald McDonald House of Akron
245 Locust St.
Akron, OH 44302
Phone: (330) 253-5400
Fax: (330) 253-5477

“The Ronald McDonald House of Akron was founded by families for the purpose of providing a temporary house for those who have loved ones at Akron Children’s Hospital. Many times when an overnight stay in the hospital is required, it can turn into weeks and months. Our House provides a place for the families of the sick children to conduct the basic necessities of daily life. It is a place to sleep, a place to shower and a place for a hot meal.”




Investigator: Sumit Parikh, MD
9500 Euclid Ave, S60
Cleveland, OH 44195
Phone: 216-444-1994
Fax: 216-445-9139

Site Coordinator: Diane Davies
Phone: 216-444-0173
Email: daviesd@ccf.org

Local Resources: Contact: Robin Roberts LISW…216-445-3088, Email: ROBERTR@ccf.org
Nancy Fenner LISW 216-445-6399
Email: FENNERN@ccf.org

Lodging for Cleveland Clinic: https://www.clevelandclinic.org/socialwork/lodging.htm . Includes Ronald McDonald House and Hospitality Homes, as well as hotels with reduced rates for patients.








Investigator: David Lynch, MD, PhD
Children’s Hospital of Philadelphia
3819 Chestnut Street #120
Philadelphia, PA 19104-3236
(215) 590-2242
Email: lynchd@mail.med.upenn.edu


Site Coordinator: Lauren Seyer
Phone: 267-426-9738
Fax: 267-426-0981
Email: seyerl@email.chop.edu


Local Resources: Contact Lauren Seyer for local resources.





Investigator: Michio Hirano, MD
Professor of Neurology
630 West 168th Street
New York, NY 10032
(212) 305-1048
Email: Mh29@columbia.edu

Site Coordinator: Kris Engelstad
Phone: 212-305-6834
Email: ke4@columbia.edu

Ronald McDonald House New York
405 East 73rd Street
New York, NY 10021
(212) 639-0100




Investigator: Stephen Kinsman, MD
Associate Prof. of Neurosciences, Division of Pediatric Neurology
171 Ashley Avenue
Charleston, SC 29425
(843) 792- 2707
Email: kinsmans@musc.edu

Site Coordinator: Latisha Hendry
Program Coordinator 1
Success Center
SCTR Research Support Services
Medical University of SC
125 Doughty Street Suite 100
Charleston, SC 29425
Phone: (843) 792-8300
Fax: (843) 792-6295
Email: hendryl@musc.edu
Ronald McDonald House Charities of Columbia, SC
2955 Colonial Drive
Columbia, SC 29203
Phone: 803.254.3181
Fax: 803.254.8688

The Ronald McDonald Family Room extends the comfort of the Ronald McDonald House to our local Children’s Hospital. Children of families staying at RMHC must be 21 & under. This location can accommodate 8 families at a time.




Investigator: Russell P. Saneto, DO, PhD
Associate Professor of Neurology and Pediatrics
4800 Sand Point Way
Seattle, WA 98105
(206) 987-4017

Site Coordinator: Laurie Guidry
Phone: 206-987-0058
Fax: 206-987-2649
Email: laurie.guidry@seattlechildrens.org
Local Resources: Contact Laurie Guidry for local resources.

Accommodation and Social Work Department info at http://www.seattlechildrens.org/visitors/neighborhood/places-to-stay/ or call 206-987-9330 or 866-987-9330 (toll-free)

Seattle Ronald McDonald House
5130 40th Ave NE
Seattle, WA 98105
(206) 838-0610
The Seattle Ronald McDonald House provides a caring “home-away-from-home” for families of seriously ill children being treated at Seattle Children’s. Families are asked to pay $25 a night, unless they cannot afford it. The House consists of 3 buildings, and can accommodate 80 families. More info can be found on website.


Register for the North American Mitochondrial Disease Consortium.


One of the main activities of the NAMDC is to collect information on mitochondrial disease patients and their families in a Clinical Patient Registry. This registry will enable research which, due to the rarity of the diseases, would not be possible without a large database to collect information on patients from many clinics and countries. Participation in the NAMDC Clinical Patient Registry will be the first step in a new wave of coorperative research into mitochondrial diseases and potential treatments. In addition, patients enrolled in the registry will have the option of receiving periodic research updates about mitochondrial diseases, including personal notification of upcoming research projects for which they may be eligible. For information, or to register for NAMDC, click here.



Join the Contact RegistryYou should also register with the Rare Clinical Diseases Research Network Contact Registry.   Separate from NAMDC, the Contact Registry is a method by which patients with rare diseases can register themselves with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.  You (or your child) are invited to participate in a research project that will develop a nation-wide registry for patients. 

For information about the RDCRN Contact Registry,click here To register yourself or a family member.