LHON is considered an orphan disease (rare disease). As a result, drugs being developed for this disease have the ability to get Orphan Drug Designation and get fast tracked much quicker through the FDA approval process because of this orphan disease designation. This is something that is currently attracting pharmaceutical companies to develop drugs for LHON and other mitochondrial diseases. Mitochondrial diseases are especially interesting for researchers because they may help unfold the mysteries of Alzheimers, Huntingtons and Parkinsons as we understand more about mitochondria.

Currently there are several research centers in the world where LHON is being studied and clinical trials are taking place. Each research trial will have different recruiting criteria and it is best to reach out to.

Gene therapy – GenSight – Multiple sites worldwide {Soon to begin recruiting those affected by mutation 11778, age 15+, affected less than 1 year}

Santhera Pharmaceuticals – Multiple sites in the US and Europe {Currently recruiting those affected 5 years or less with genetic confirmation of mutation 11778, 14484 or 3460, ages 12+, never taken Idebenone]

Gene therapy – Bascom Palmer University of Miami [Currently recruiting, only those affected by mutation 11778]:

Stealth BioTherapeutics – Elampretide [Fully-recruited; data being collected]:

Longitudinal study of a large extended LHON family in rural Brazil:

To read the latest research about LHON, go to PubMed and search LHON and related topics: PubMed

Overviews of treatments and trials are presented at the UMDF conference each June and LHON Canada Symposiums. We enourage you to attend both of these conferences because they are pearls of wisdom in the search for the cure for our rare disease.

Reference : https://www.lhon.org/lhon-101

Journal Articles can be of great value as you try to understand the disease further and can aid in communicating the latest information about LHON to your healthcare team.