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Friedreich’s Ataxia: FDA Orphan Drug Designations

March 25, 2014

This Blog Post presents the FDA designated orphan drugs for the rare disease Friedreich’s ataxia.

I – Introduction

Friedreich’s ataxia (FRDA) is an inherited mitochondrial disease, which is first described by Nikolaus Friedreich, a German pathologist, in 1863. The gene for FRDA is discovered in 1996. FRDA is a rare genetic condition that affects the nervous system and results in movement problems. Over time, muscle coordination (ataxia) worsens, there is loss of strength and sensation in arms and legs, impaired speech, and spasticity may occur. The disease is caused by mutations in the FXN gene, which provides instructions for making a protein called frataxin. Frataxin is important for the normal function of mitochondria, the energy-producing centers within cells. FRDA affects approximately 1/50,000 people in the US and Europe. There is no current FDA or EMA approved treatment.

 II– FDA Orphan Drug Designations For FRDA

The chart below identifies FDA Orphan Drug Designations (ODDs) for FRDA in ascending ODD Date order :


  Generic Name/ODD Date Sponsor Company Indication
1 Physostigmine salicylatephysostigmine salicylate/ 01.16.85 Forest Pharmaceutical FRDA & other inherited ataxias
2 Idebenone/ 03.25.04 Santhera Pharmaceuticals FRDA
3 Deferiprone/ 07.31.08 ApoPharma FRDA
4 N-(6-2-aminophenylamino)-6-oxohexyl)-4-methylbenzamide/   05.17.10 Repligen Corporation FRDA
5 Coenzyme Q10 and d-alpha-tocopherol/ 03.14.11 NBI Pharmaceuticals FRDA
6 Interferon gamma/ 11.04.11 Roberto Testi, MD, Italy FRDA
7 Dimethyl fumarate/ 09.11.13 Gino Cortopassi, USA FRDA
8 Vatiquinone/ 01.31.14 Edison Pharmaceuticals FRDA


III – Edison Pharmaceuticals

Edison Pharmaceuticals, a California-based specialty pharmaceutical company, develops treatments for mitochondrial diseases. It is Edison Pharmaceuticals’ lead drug candidate, EPI-743 or Vincerinone (Vatiquinone), that has recently been in the news since the beginning of 2014. EPI-743 has Orphan Drug Designation in both the US and Europe. EPI-743 receives:

•   FDA ODD in January 2014 for FRDA

•   FDA Fast Track Status in March 2014 for FRDA.

Currently, the drug is in two Phase II trials for patients with FRDA. A Phase IIb randomized, double-blind placebo-controlled trial for FRDA adults is fully enrolled with completion in the Q3 2014. The Phase IIb clinical trial is sponsored by Edison Pharmaceuticals in collaboration with the Friedrich’s Ataxia Research Alliance (FARA).

EPI-743 is an oral bioavailable small molecule that is also being developed by Edison Pharmaceuticals for other inherited rare mitochondrial diseases :

•   Leigh Syndrome

•   Pearson Syndrome

•   Cobalamin C Defect

•   Undiagnosed Disorders of Oxidation-Reduction.

Please Note:Chemlab2” by Tahoenathan (Own work) [CC-BY-SA-3.0] | via Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

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