Leber's Hereditary Optic NeuropathyPhase 1LHONNCT02161380
Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy
A Phase 1 study testing injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med) and injection of scAAV2-P1ND4v2 2.4 X10e10vg (High) in people with Leber's Hereditary Optic Neuropathy, run by Byron Lam at 1 site in United States.
Trial summary
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON patients. Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- Leber's Hereditary Optic Neuropathy
- What is being tested?
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med) and injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 28 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Jul 2014to 31 Mar 2025
- Phase
- Phase 1
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Age 15 or older;
- Patients with LHON and the G11778A mitochondrial DNA mutation. A previous CLIA-certified genetic lab result showing the LHON G11778A mutation will be accepted for inclusion;
- Ability to perform tests of visual and retinal function;
- Ability to comply with research procedures;
- Able and willing to provide informed consent before undergoing any study-related procedures.
- Good general health as based on the investigator's assessment of the history, physical examination, and laboratory testing performed at the baseline examination.
Who cannot join
- Unwilling or unable to give consent,
- Unable or unlikely to return for scheduled protocol visits
- Pregnant or nursing women or unwillingness for subject with childbearing potential to use contraception during the first year of the study.
- Optic disc drusen on exam or in previous history.
- Ocular diseases or visual dysfunction conditions other than refractive error (e.g. amblyopia, glaucoma, etc.) in the eye selected for the injection.
- Previous eye surgery in the eye selected for injection.
Show all 14Show fewer
- Aspartate transaminase (AST)/alanine transaminase (ALT) >5.0 x upper limit of normal (ULN); Total bilirubin >3 x ULN; Hemoglobin < 8 g/dL; neutrophil count <1.0 x 109/L; or platelet count < 50 x 109/L
- Any laboratory screening test that meets the abnormality criteria stated above can be repeated once between Baseline one to Baseline 2.
- Type I diabetes or the presence of diabetic retinopathy
- History of neurodegenerative conditions (e.g. multiple sclerosis, neuromyelitis optica, Parkinson's disease)
- History of autoimmune conditions (e.g. systemic lupus erythematosus)
- Systemic diseases having ocular manifestations likely to confound assessment of study results. History of cancer within five years other than localized basal or squamous cell carcinoma not near the orbital area. Patients with a prior history of cancer will need documentation from their cancer specialist that the cancer was cured at least 5 years before study entry.
- Allergy to pupil dilating drops or narrow angles precluding safe dilation.
- No Light Perception (NLP) vision in either eye.
Trial locations and contacts
1 site in 1 country.
United States1 site
Bascom Palmer Eye Institute, University of Miami
Miami, Florida, 33136
About this study
Official title: An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON patients.
Read the detailed description
The purpose of this dose-escalation study is to assess the safety and tolerability of scAAV2-P1ND4v2 (abbreviated as AAV-ND4) gene replacement therapy in subjects confirmed with the G11778A mutation in mtDNA responsible for Leber's Hereditary Optic Neuropathy. Ocular and systemic toxicity will be assessed following vector administration to determine if there are adverse changes that may be associated with vector administration.
This first-in-man (FIM) clinical trial will assess the safety, tolerability, and potential efficacy of a single intravitreal injection in patient groups reflecting the acute, pre-symptomatic, and chronic stages and manifestation of the LHON disease.
- Conditions
- Leber's Hereditary Optic Neuropathy
- Being tested
- injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med), injection of scAAV2-P1ND4v2 2.4 X10e10vg (High), injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
- Keywords
- Gene therapy, Mitochondrial Genes, Leber's, AAV2 Viral vectors
- Medical subject headings
- Optic Atrophy, Hereditary, Leber
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),Drug
Also called AAV-ND4
injection of Total Volume of each intravitreal injection is 200 µL
injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med)Drug
Also called AAV-ND4
injection of Total Volume of each intravitreal injection is 200 µL
injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)Drug
Also called AAV-ND4
injection of Total Volume of each intravitreal injection is 100 µL
injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)Drug
Also called AAV-ND4
injection of Total Volume of each intravitreal injection is 100 µL
| Study group | Role | What they receive |
|---|---|---|
| Low-dose (1.18x10e9 vg) | Experimental | Participants with Chronic Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg.
Participants with Acute Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg.
Participants with Acute Unilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg Receives: Drug: injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low), |
| Medium dose (5.81x10e9 vg) | Experimental | Participants with Chronic Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg.
Participants with Acute Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg.
Participants with Acute Unilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg. Receives: Drug: injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med) |
| High dose (2.40x10e10 vg) | Experimental | Participants with Chronic Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 2.40x10e10 vg. Receives: Drug: injection of scAAV2-P1ND4v2 2.4 X10e10vg (High) |
| Higher dose (1x10e11vg) | Experimental | Participants with Chronic Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg.
Participants with Acute Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg.
Participants with Acute Unilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg. Receives: Drug: injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Treatment Related Adverse Events
Number of treatment-related adverse events will be assessed as per investigator with respective to relationship to the investigative product.
Measured: 3 years
Secondary outcomes (1)
Best-corrected Visual Acuity
Best-corrected visual acuity(BCVA) was tested using the ETDRS Chart. The LogMAR visual acuity scale was adapted from the ETDRS chart to facilitate statistical analysis.
Longitudinal analyses of BCVA changes at months 12, 24, and 36 versus baseline 2 were performed.
Measured: up to 36 months after treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jun 2014 (estimated)
- Study start14 Jul 2014
- Primary completion31 Mar 2023
- Study completion31 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (11)Papers the sponsor has linked to this study.
- Other trials for Leber's Hereditary Optic NeuropathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- Byron Lam
- Sponsor type
- University, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Responsible party
- Sponsor-investigator, Byron Lam, University of Miami
- Investigators
- Byron Lam, MD, Principal investigator, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL 33136
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02161380
- Sponsor's protocol ID
- 20140248
- Other IDs
- 1U10EY023558-01A1
- Acronym
- LHON
- Status last verified
- May 2025
- First submitted
- 6 Jun 2014
- Last updated
- 5 Jun 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Publications
Feuer WJ, Schiffman JC, Davis JL, Porciatti V, Gonzalez P, Koilkonda RD, Yuan H, Lalwani A, Lam BL, Guy J. Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. Ophthalmology. 2016 Mar;123(3):558-70. doi: 10.1016/j.ophtha.2015.10.025. Epub 2015 Nov 19.
PubMed 26606867Guy J, Feuer WJ, Davis JL, Porciatti V, Gonzalez PJ, Koilkonda RD, Yuan H, Hauswirth WW, Lam BL. Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. Ophthalmology. 2017 Nov;124(11):1621-1634. doi: 10.1016/j.ophtha.2017.05.016. Epub 2017 Jun 21.
PubMed 28647203Lam BL, Feuer WJ, Davis JL, Porciatti V, Yu H, Levy RB, Vanner E, Guy J. Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups. Am J Ophthalmol. 2022 Sep;241:262-271. doi: 10.1016/j.ajo.2022.02.023. Epub 2022 Mar 7.
PubMed 35271811Lam BL, Feuer WJ, Porciatti V, Davis JL, Zheng DD, Vanner EA, Savatovsky EJ, Alba DE, Guy J. Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures. Am J Ophthalmol. 2024 Jan;257:113-128. doi: 10.1016/j.ajo.2023.09.005. Epub 2023 Sep 15.
PubMed 37716450Porciatti V, Alba DE, Feuer WJ, Davis J, Guy J, Lam BL. The Relationship Between Stage of Leber's Hereditary Optic Neuropathy and Pattern Electroretinogram Latency. Transl Vis Sci Technol. 2022 Mar 2;11(3):31. doi: 10.1167/tvst.11.3.31.
PubMed 35344016Lam BL. Leber hereditary optic neuropathy gene therapy. Curr Opin Ophthalmol. 2024 May 1;35(3):244-251. doi: 10.1097/ICU.0000000000001028. Epub 2023 Dec 20.
PubMed 38117686Lam BL, Burke SP, Wang MX, Nadayil GA, Rosa PR, Gregori G, Feuer WJ, Cuprill-Nilson S, Vandenbroucke R, Zhang X, Guy J. Macular Retinal Sublayer Thicknesses in G11778A Leber Hereditary Optic Neuropathy. Ophthalmic Surg Lasers Imaging Retina. 2016 Sep 1;47(9):802-10. doi: 10.3928/23258160-20160901-02.
PubMed 27631475Koilkonda R, Yu H, Talla V, Porciatti V, Feuer WJ, Hauswirth WW, Chiodo V, Erger KE, Boye SL, Lewin AS, Conlon TJ, Renner L, Neuringer M, Detrisac C, Guy J. LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile. Invest Ophthalmol Vis Sci. 2014 Oct 23;55(12):7739-53. doi: 10.1167/iovs.14-15388.
PubMed 25342621Guy J, Feuer WJ, Porciatti V, Schiffman J, Abukhalil F, Vandenbroucke R, Rosa PR, Lam BL. Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2014 Feb 10;55(2):841-8. doi: 10.1167/iovs.13-13365.
PubMed 24398093Koilkonda RD, Yu H, Chou TH, Feuer WJ, Ruggeri M, Porciatti V, Tse D, Hauswirth WW, Chiodo V, Boye SL, Lewin AS, Neuringer M, Renner L, Guy J. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. JAMA Ophthalmol. 2014 Apr 1;132(4):409-20. doi: 10.1001/jamaophthalmol.2013.7630.
PubMed 24457989Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.
PubMed 30194931
Study at a glance
From the registry record, last updated by the sponsor on 5 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA
- ClinicalTrials.gov ID
- NCT02161380
- Acronym / sponsor ID
- LHON / 20140248
- Conditions
- Leber's Hereditary Optic Neuropathy
- Keywords
- Gene therapy, Mitochondrial Genes, Leber's, AAV2 Viral vectors
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- Byron LamUniversity, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Study start
- 14 Jul 2014 (actual)
- Primary completion
- 31 Mar 2023 (actual)
- Study completion
- 31 Mar 2025 (actual)
- First posted
- 11 Jun 2014 (estimated)
- Results
- Posted 7 Aug 2024
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The study is a dose-escalation study, phase 1. The objective of this proposed clinical trial is to evaluate the safety of mitochondrially targeted ND4 gene therapy with the adeno-associated viral vector in appropriate LHON patients.
Detailed description
The purpose of this dose-escalation study is to assess the safety and tolerability of scAAV2-P1ND4v2 (abbreviated as AAV-ND4) gene replacement therapy in subjects confirmed with the G11778A mutation in mtDNA responsible for Leber's Hereditary Optic Neuropathy. Ocular and systemic toxicity will be assessed following vector administration to determine if there are adverse changes that may be associated with vector administration.
This first-in-man (FIM) clinical trial will assess the safety, tolerability, and potential efficacy of a single intravitreal injection in patient groups reflecting the acute, pre-symptomatic, and chronic stages and manifestation of the LHON disease.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Low-dose (1.18x10e9 vg) | Experimental | Drug: injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),Participants with Chronic Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg. Participants with Acute Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg. Participants with Acute Unilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 1.18x10e9 vg |
| Medium dose (5.81x10e9 vg) | Experimental | Drug: injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med)Participants with Chronic Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg. Participants with Acute Bilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg. Participants with Acute Unilateral Severe Vision Loss were administered 200 µL of scAAV2-P1ND4v2 containing a dose of 5.81x10e9 vg. |
| High dose (2.40x10e10 vg) | Experimental | Drug: injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)Participants with Chronic Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 2.40x10e10 vg. |
| Higher dose (1x10e11vg) | Experimental | Drug: injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)Participants with Chronic Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg. Participants with Acute Bilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg. Participants with Acute Unilateral Severe Vision Loss were administered 100 µL of scAAV2-P1ND4v2 containing a dose of 1x10e11vg. |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Age 15 or older;
- Patients with LHON and the G11778A mitochondrial DNA mutation. A previous CLIA-certified genetic lab result showing the LHON G11778A mutation will be accepted for inclusion;
- Ability to perform tests of visual and retinal function;
- Ability to comply with research procedures;
- Able and willing to provide informed consent before undergoing any study-related procedures.
Key exclusion criteria (14 listed)
- Unwilling or unable to give consent,
- Unable or unlikely to return for scheduled protocol visits
- Pregnant or nursing women or unwillingness for subject with childbearing potential to use contraception during the first year of the study.
- Optic disc drusen on exam or in previous history.
- Ocular diseases or visual dysfunction conditions other than refractive error (e.g. amblyopia, glaucoma, etc.) in the eye selected for the injection.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),Also: AAV-ND4injection of Total Volume of each intravitreal injection is 200 µL | Drug | Low-dose (1.18x10e9 vg) |
| injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med)Also: AAV-ND4injection of Total Volume of each intravitreal injection is 200 µL | Drug | Medium dose (5.81x10e9 vg) |
| injection of scAAV2-P1ND4v2 2.4 X10e10vg (High)Also: AAV-ND4injection of Total Volume of each intravitreal injection is 100 µL | Drug | High dose (2.40x10e10 vg) |
| injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)Also: AAV-ND4injection of Total Volume of each intravitreal injection is 100 µL | Drug | Higher dose (1x10e11vg) |
Primary outcome
Number of Treatment Related Adverse Events
Time frame: 3 years
Number of treatment-related adverse events will be assessed as per investigator with respective to relationship to the investigative product.
1 secondary outcome
Best-corrected Visual Acuity
Time frame: up to 36 months after treatment
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Jun 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Results publication: PubMed 26606867Feuer WJ, Schiffman JC, Davis JL, Porciatti V, Gonzalez P, Koilkonda RD, Yuan H, Lalwani A, Lam BL, Guy J. Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. Ophthalmology. 2016 Mar;123(3):558-70. doi: 10.1016/j.ophtha.2015.10.025. Epub 2015 Nov 19.
- Results publication: PubMed 28647203Guy J, Feuer WJ, Davis JL, Porciatti V, Gonzalez PJ, Koilkonda RD, Yuan H, Hauswirth WW, Lam BL. Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. Ophthalmology. 2017 Nov;124(11):1621-1634. doi: 10.1016/j.ophtha.2017.05.016. Epub 2017 Jun 21.
- Results publication: PubMed 35271811Lam BL, Feuer WJ, Davis JL, Porciatti V, Yu H, Levy RB, Vanner E, Guy J. Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups. Am J Ophthalmol. 2022 Sep;241:262-271. doi: 10.1016/j.ajo.2022.02.023. Epub 2022 Mar 7.
- Results publication: PubMed 37716450Lam BL, Feuer WJ, Porciatti V, Davis JL, Zheng DD, Vanner EA, Savatovsky EJ, Alba DE, Guy J. Leber Hereditary Optic Neuropathy Gene Therapy: Longitudinal Relationships Among Visual Function and Anatomical Measures. Am J Ophthalmol. 2024 Jan;257:113-128. doi: 10.1016/j.ajo.2023.09.005. Epub 2023 Sep 15.
- Results publication: PubMed 35344016Porciatti V, Alba DE, Feuer WJ, Davis J, Guy J, Lam BL. The Relationship Between Stage of Leber's Hereditary Optic Neuropathy and Pattern Electroretinogram Latency. Transl Vis Sci Technol. 2022 Mar 2;11(3):31. doi: 10.1167/tvst.11.3.31.
- Results publication: PubMed 38117686Lam BL. Leber hereditary optic neuropathy gene therapy. Curr Opin Ophthalmol. 2024 May 1;35(3):244-251. doi: 10.1097/ICU.0000000000001028. Epub 2023 Dec 20.
- Results publication: PubMed 27631475Lam BL, Burke SP, Wang MX, Nadayil GA, Rosa PR, Gregori G, Feuer WJ, Cuprill-Nilson S, Vandenbroucke R, Zhang X, Guy J. Macular Retinal Sublayer Thicknesses in G11778A Leber Hereditary Optic Neuropathy. Ophthalmic Surg Lasers Imaging Retina. 2016 Sep 1;47(9):802-10. doi: 10.3928/23258160-20160901-02.
- Results publication: PubMed 25342621Koilkonda R, Yu H, Talla V, Porciatti V, Feuer WJ, Hauswirth WW, Chiodo V, Erger KE, Boye SL, Lewin AS, Conlon TJ, Renner L, Neuringer M, Detrisac C, Guy J. LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile. Invest Ophthalmol Vis Sci. 2014 Oct 23;55(12):7739-53. doi: 10.1167/iovs.14-15388.
- Results publication: PubMed 24398093Guy J, Feuer WJ, Porciatti V, Schiffman J, Abukhalil F, Vandenbroucke R, Rosa PR, Lam BL. Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2014 Feb 10;55(2):841-8. doi: 10.1167/iovs.13-13365.
- Results publication: PubMed 24457989Koilkonda RD, Yu H, Chou TH, Feuer WJ, Ruggeri M, Porciatti V, Tse D, Hauswirth WW, Chiodo V, Boye SL, Lewin AS, Neuringer M, Renner L, Guy J. Safety and effects of the vector for the Leber hereditary optic neuropathy gene therapy clinical trial. JAMA Ophthalmol. 2014 Apr 1;132(4):409-20. doi: 10.1001/jamaophthalmol.2013.7630.
- Derived from this study: PubMed 30194931Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.
- Bascom Palmer NewsLink provided by the sponsor.
Related trials for Leber's Hereditary Optic Neuropathy
RecruitingPhase 3
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
Leber Congenital Amaurosis 10, Blindness
Not yet recruitingPhase 1/2
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
Recruiting
New Non-invasive Modalities for Assessing Retinal Structure and Function
Ischemic Optic Neuropathy, Branch Retinal Artery Occlusion
Recruiting
Stem Cell Ophthalmology Treatment Study II
Retinal Disease, Age-Related Macular Degeneration
RecruitingPhase 2
Efficacy and Safety Study of Bilateral IVT Injection of GS010 at Two Dose Levels in LHON Patients
Leber Hereditary Optic Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Byron Lam, MD principal investigator
Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL 33136
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),, injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med) and injection of scAAV2-P1ND4v2 2.4 X10e10vg (High) in people with Leber's Hereditary Optic Neuropathy, run by Byron Lam at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 7 Aug 2024). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Treatment Related Adverse Events (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02161380, which also lists 11 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Jun 2025.