A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for Treatment of Leber's Hereditary Optic Neuropathy

This is a Phase 2, prospective, randomized, double-masked, vehicle controlled, single-center study in approximately 12 subjects with LHON to evaluate safety, tolerability and efficacy of elamipretide (MTP-131) topical ophthalmic solution in this patient population. At the conclusion of 52 weeks of treatment, subjects will be offered the opportunity to enter an Open Label Extension for up to 48 additional weeks of treatment.

This was a prospective, randomized, double-masked (DM), vehicle-controlled, single-center study plus open label extension period (OLE) in which approximately 12 subjects with LHON having the genetic mtDNA mutation m.11778G\>A were randomized in a masked manner into 1 of 3 groups in a 1:1:1 ratio: one drop of elamipretide 1.0% topical ophthalmic solution twice daily (BID) in the: left eye, right eye, or both eyes.

After completion of the 52-week treatment period or the Week 56 follow-up period, subjects were invited to participate in the OLE period for up to 108 weeks. During the OLE participants received 1% topical opthalmic elamipretide in both eyes (OU) daily. If a subject did not consent to the OLE, he/she completed the study at the Week 56 (±7 days) visit. There were 4 periods in this study: (1) screening period (up to 6 weeks); (2) double-masked treatment period (52 weeks); (3) OLE period (up to 108 weeks), and (4) follow-up period (4 weeks) after completion of End-of-Treatment (EOT) visit.

Eligibility Criteria:
Inclusion Criteria:

* Adults ≥18 and ≤ 50 years old at the time of loss of vision in the second eye.
* Able to provide informed consent and willing to comply with all study visits and examinations
* Diagnosis of LHON based on clinical and ophthalmic functional/anatomic test findings, and satisfactory documentation of the mitochondrial DNA mutation m.11778G\>A
* Loss of vision in both eyes of ≥1 year and ≤10 years at the time of the Screening Visit and current clinically stable visual function (as assessed by the Investigator)
* Able to self-administer eye drops as demonstrated at screening or having a care provider who can do so
* Documentation of having satisfactorily completed at least two previous Humphrey automated visual field tests prior to screening.
* Women of childbearing potential must agree to use birth control as specified in the protocol from the date they sign the informed consent form

Exclusion Criteria:

* Any other ocular pathology requiring treatment with prescription topical ophthalmic drops (e.g., glaucoma, dry eye)
* Cup to disc ratio of \> 0.8 in either eye
* Media opacity, suboptimal pupillary dilatation, or refractive error that interferes with adequate retinal imaging
* Known to be immunocompromised or receiving systemic immunosuppression
* Any disease or medical condition that in the opinion of the Investigator would prevent the subject from participating in the study or might confound study results
* Participation in other investigational drug or device clinical trials within 30 days prior to enrollment, or planning to participate in any other investigational drug or device clinical trials within 30 days of study completion
* Women who are pregnant or lactating

Other protocol-defined inclusion/exclusion criteria may apply.