A form of mitochondrial disease that is caused by biallelic (autosomal recessive) mutations in nuclear‑encoded genes normally associated with mitochondrial Complex I subunits or assembly factors. It i...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding Leber hereditary optic neuropathy, autosomal recessive is limited due to its rarity and the recent identification of its genetic basis. As this condition affects a small population, systematic clinical studies have been sparse, making comprehensive characterization challenging. Ongoing research may provide more insights in the future.
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
There are several orphan drugs designated for Leber hereditary optic neuropathy, including elamipretide, idebenone, and lenadogene nolparvovec, among others. Currently, there are two active clinical trials investigating potential therapies for this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'Leber hereditary optic neuropathy, autosomal recessive'. This research offers hope for future treatment options.
Actionable guidance for navigating care for Leber hereditary optic neuropathy, autosomal recessive
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding Leber hereditary optic neuropathy, autosomal recessive is limited due to its rarity and the recent identification of its genetic basis. As this condition affects a small population, systematic clinical studies have been sparse, making comprehensive characterization challenging. Ongoing research may provide more insights in the future.
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
There are several orphan drugs designated for Leber hereditary optic neuropathy, including elamipretide, idebenone, and lenadogene nolparvovec, among others. Currently, there are two active clinical trials investigating potential therapies for this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'Leber hereditary optic neuropathy, autosomal recessive'. This research offers hope for future treatment options.
Actionable guidance for navigating care for Leber hereditary optic neuropathy, autosomal recessive
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding Leber hereditary optic neuropathy, autosomal recessive is limited due to its rarity and the recent identification of its genetic basis. As this condition affects a small population, systematic clinical studies have been sparse, making comprehensive characterization challenging. Ongoing research may provide more insights in the future.
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
There are several orphan drugs designated for Leber hereditary optic neuropathy, including elamipretide, idebenone, and lenadogene nolparvovec, among others. Currently, there are two active clinical trials investigating potential therapies for this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'Leber hereditary optic neuropathy, autosomal recessive'. This research offers hope for future treatment options.
Actionable guidance for navigating care for Leber hereditary optic neuropathy, autosomal recessive
To navigate your care effectively, seek out a specialist in mitochondrial diseases or a geneticist with expertise in hereditary optic neuropathies. Genetic counseling may be beneficial, especially given the known genes associated with this condition. Additionally, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for more information and support. Participating in clinical trials may also provide access to cutting-edge therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.