Leber's Hereditary Optic Neuropathy - Pipeline Insight, 2025

This “Leber’s Hereditary Optic Neuropathy - Pipeline Insight, 2025” report provides comprehensive insights about 3+ companies and 4+ pipeline drugs in Leber’s Hereditary Optic Neuropathy pipeline landscape. It covers the pipeline drug profiles, including clinical and nonclinical stage products. It also covers the therapeutics assessment by product type, stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

Geography Covered

Leber’s Hereditary Optic Neuropathy: Understanding

Leber’s Hereditary Optic Neuropathy: Overview

Mitochondrial diseases were once thought to be rare, largely due to their diverse and often subtle clinical presentations, which made diagnosis challenging. However, these conditions are increasingly recognized as a significant cause of neurological and visual dysfunction. Ophthalmic manifestations, in particular, are common in mitochondrial disorders and can lead to retinopathy, ocular motility disorders, and optic neuropathy. Among the various mitochondrial disorders, Leber hereditary optic neuropathy (LHON) is often regarded as the quintessential condition. First described by Dr. Theodore Leber in 1858, LHON was initially identified by Dr. Albrecht von Graefe in a small group of patients. It was the first mitochondrial disease recognized to be maternally inherited and linked to a point mutation in mitochondrial DNA (mtDNA). Vision loss in LHON occurs due to selective degeneration of retinal ganglion cells (RGCs), which are particularly vulnerable to mitochondrial dysfunction. The pathophysiological mechanisms underlying LHON continue to be explored, and ongoing research holds promise for potential therapeutic strategies.

LHON typically presents with painless, subacute central vision loss in one eye, followed by involvement of the second eye within weeks to months. Most patients progress to a visual acuity of 20/200 or worse, with early visual field defects manifesting as a cecocentral scotoma. Fundus examination in the acute stage may reveal optic disc hyperemia, peripapillary telangiectatic blood vessels, and retinal nerve fiber layer (RNFL) swelling, though up to 40% of patients may have a normal-appearing fundus. As the disease progresses, optic disc pallor and RNFL thinning occur. Visual evoked potentials (VEPs) and electroretinograms (ERGs) are often abnormal, reflecting optic nerve degeneration. While brain and orbital magnetic resonance imaging is typically normal, some patients show non-specific optic nerve enhancement. Interestingly, asymptomatic LHON mutation carriers may exhibit subclinical signs of disease, such as subtle fundus changes or temporal RNFL thickening.

The diagnosis of LHON involves a comprehensive neuro-ophthalmologic evaluation, with a focus on the clinical presentation of sudden, painless central vision loss, typically affecting young males in a sequential pattern. Key diagnostic tests include genetic testing for mitochondrial DNA mutations, optical coherence tomography (OCT) to assess retinal nerve fiber layer changes, and visual field testing. A pattern electroretinogram (PERG) and MRI/CT scans may be used to rule out other causes of optic neuropathy. Genetic testing is essential, often starting with blood tests to identify common LHON mutations, followed by targeted mtDNA sequencing or a multi-gene mitochondrial panel. Confirmation of the diagnosis is made by excluding alternative optic neuropathies and identifying characteristic optic nerve changes, with a family history of visual loss further supporting the diagnosis.

Treatment for LHON is primarily supportive, focusing on low vision aids and rehabilitation for central vision loss, as well as counseling to avoid environmental risk factors like tobacco and alcohol. While various nutritional supplements and medications such as idebenone and brimonidine have been explored, their efficacy remains inconclusive. Gene therapy, involving the introduction of wild-type genes to restore mitochondrial function, shows promise in early-stage clinical trials. Additionally, stem cell therapies aimed at protecting retinal ganglion cells are under investigation. However, there is currently no curative treatment, and most patients rely on supportive care.

"Leber’s Hereditary Optic Neuropathy- Pipeline Insight, 2025" report outlays comprehensive insights of present scenario and growth prospects across the indication. A detailed picture of the Leber’s Hereditary Optic Neuropathy pipeline landscape is provided which includes the disease overview and Leber’s Hereditary Optic Neuropathy treatment guidelines. The assessment part of the report embraces, in depth Leber’s Hereditary Optic Neuropathy commercial assessment and clinical assessment of the pipeline products under development. In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Leber’s Hereditary Optic Neuropathy collaborations, licensing, mergers and acquisition, funding, designations and other product related details.

Report Highlights

The companies and academics are working to assess challenges and seek opportunities that could influence Leber’s Hereditary Optic Neuropathy R&D. The therapies under development are focused on novel approaches to treat/improve Leber’s Hereditary Optic Neuropathy.

Leber’s Hereditary Optic Neuropathy Emerging Drugs Chapters

This segment of the Leber’s Hereditary Optic Neuropathy report encloses its detailed analysis of various drugs in different stages of clinical development, including Phase III, II, I, Preclinical and Discovery. It also helps to understand clinical trial details, expressive pharmacological action, agreements and collaborations, and the latest news and press releases.

Leber’s Hereditary Optic Neuropathy Emerging Drugs

GS010: GenSight Biologics

GS010 (lenadogene nolparvovec) is a gene therapy being developed by GenSight Biologics for treating Leber Hereditary Optic Neuropathy (LHON) caused by the specific G11778A mutation in the mitochondrial ND4 gene. This therapeutic approach utilizes a proprietary mitochondrial targeting sequence (MTS) technology with an Adeno-Associated Virus (AAV) vector to deliver a functional gene directly into retinal cells. The therapy aims to restore mitochondrial function and prevent retinal ganglion cell apoptosis, addressing the underlying genetic cause of vision loss. GS010 has been granted Orphan Drug Designation both in the United States and in Europe. Currently, the drug is in Phase III stage of its development for the treatment of Leber’s Hereditary Optic Neuropathy.

• Visomitin: Mitotech

Visomitin is a topical cardiolipin peroxidation inhibitor developed by Mitotech for treating Leber's Hereditary Optic Neuropathy (LHON), a rare inherited mitochondrial genetic disease causing irreversible vision loss. The drug is designed to sustain and restore mitochondrial function and interrupt apoptosis in retinal ganglion cells, offering potential therapeutic benefits for patients with this challenging condition. Visomitin has also been granted Orphan Drug Designation by the FDA. Currently, the drug is in Phase II stage of its clinical trial for the treatment of Leber’s Hereditary Optic Neuropathy.

Leber’s Hereditary Optic Neuropathy: Therapeutic Assessment

This segment of the report provides insights about the different Leber’s Hereditary Optic Neuropathy drugs segregated based on following parameters that define the scope of the report, such as:

Major Players in Leber’s Hereditary Optic Neuropathy

• There are approx. 3+ key companies which are developing the therapies for Leber’s Hereditary Optic Neuropathy. The companies which have their Leber’s Hereditary Optic Neuropathy drug candidates in the most advanced stage, i.e. Phase II include, GenSight Biologics.

Phases

The report covers around 4+ products under different phases of clinical development like

• Late stage products (Phase III)
• Mid-stage products (Phase II)
• Early-stage product (Phase I) along with the details of
• Pre-clinical and Discovery stage candidates
• Discontinued & Inactive candidates

Route of Administration

Leber’s Hereditary Optic Neuropathy pipeline report provides the therapeutic assessment of the pipeline drugs by the Route of Administration. Products have been categorized under various ROAs such as

• Oral
• Intravenous
• Subcutaneous
• Parenteral
• Topical

Molecule Type

Products have been categorized under various Molecule types such as

• Recombinant fusion proteins
• Small molecule
• Monoclonal antibody
• Peptide
• Polymer
• Gene therapy

Product Type

Drugs have been categorized under various product types like Mono, Combination and Mono/Combination.

Leber’s Hereditary Optic Neuropathy: Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, II, I, preclinical and discovery stage. It also analyses Leber’s Hereditary Optic Neuropathy therapeutic drugs key players involved in developing key drugs.

Pipeline Development Activities

The report covers the detailed information of collaborations, acquisition and merger, licensing along with a thorough therapeutic assessment of emerging Leber’s Hereditary Optic Neuropathy drugs.

Leber’s Hereditary Optic Neuropathy Report Insights

• Leber’s Hereditary Optic Neuropathy Pipeline Analysis
• Therapeutic Assessment
• Unmet Needs
• Impact of Drugs

Leber’s Hereditary Optic Neuropathy Report Assessment

• Pipeline Product Profiles
• Therapeutic Assessment
• Pipeline Assessment
• Inactive drugs assessment
• Unmet Needs

Key Questions

Current Treatment Scenario and Emerging Therapies:

• How many companies are developing Leber’s Hereditary Optic Neuropathy drugs?
• How many Leber’s Hereditary Optic Neuropathy drugs are developed by each company?
• How many emerging drugs are in mid-stage, and late-stage of development for the treatment of Leber’s Hereditary Optic Neuropathy?
• What are the key collaborations (Industry-Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Leber’s Hereditary Optic Neuropathy therapeutics?
• What are the recent trends, drug types and novel technologies developed to overcome the limitation of existing therapies?
• What are the clinical studies going on for Leber’s Hereditary Optic Neuropathy and their status?
• What are the key designations that have been granted to the emerging drugs?

Key Players

• GenSight Biologics
• Mitotech
• Biovista
• Neurophth Therapeutics

Key Products

• GS010
• Visomitin
• BVA203
• NFS-01

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