Disease · MONDO_0018998
Leber congenital amaurosis
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. Leber congenital amaurosis. Diseases, record MONDO_0018998. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018998
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
Drugs6
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| VORETIGENE NEPARVOVEC | CHEMBL3707275 | Gene | Approval | EMA Human Drugs | 4 | 3 | 3 | Drugs and targets |
| SEPOFARSEN | CHEMBL4594497 | Oligonucleotide | Phase 3 | ClinicalTrials.gov | 6 | 4 | 4 | Drugs and targets |
| ZURETINOL ACETATE | CHEMBL4297637 | Small molecule | Phase 2/3 | ClinicalTrials.gov | 4 | 3 | 3 | Drugs and targets |
| BALURETGENE PARVEC | CHEMBL6068483 | Gene | Phase 1/2 | ClinicalTrials.gov | 2 | 1 | 1 | Drugs and targets |
| BRINRETIGENE VESGEDPARVOVEC | CHEMBL5314813 | Gene | Phase 1/2 | TTD | 1 | 0 | 0 | Drugs and targets |
| CEVARETIGENE RITOPARVOVEC | CHEMBL4594342 | Gene | Unknown | USAN | 1 | 0 | 0 | Drugs and targets |
Targets2
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| CEP290 | CEP290 mRNA | 1 | CEP290 mRNA positive modulator | Phase 3 | https://conductscience.org/library/genes/80184 | Drugs and targets |
| RPE65 | Retinoid isomerohydrolase | 1 | Retinoid isomerohydrolase exogenous gene | Approval | https://conductscience.org/library/genes/6121 | Drugs and targets |
Trials11
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT00999609 | Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis | Phase 3 | 31 | 2018-03-26 | Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis | VORETIGENE NEPARVOVEC | Its record names the disease | ClinicalTrials.gov |
| NCT03140969 | Study to Evaluate QR-110 in Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene | Phase 1/2 | 11 | 2022-12-27 | Leber's Congenital Amaurosis | SEPOFARSEN | Its record names the disease | ClinicalTrials.gov |
| NCT03913130 | Extension Study to Study PQ-110-001 (NCT03140969) | Phase 1/2 | 9 | 2023-01-04 | Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders, Sensation Disorders, Neurologic Manifestations, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Retinal Disease | SEPOFARSEN | Its record names the disease | ClinicalTrials.gov |
| NCT03913143 | A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE) | Phase 2/3 | 36 | Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders, Sensation Disorders, Neurologic Manifestations, Eye Diseases, Eye Diseases, Hereditary, Eye Disorders Congenital, Retinal Disease | SEPOFARSEN | Its record names the disease | ClinicalTrials.gov | |
| NCT01014052 | Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations | Phase 1 | 32 | LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa) | ZURETINOL ACETATE | Its record names the disease | ClinicalTrials.gov | |
| NCT06891443 | Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION) | Phase 3 | 32 | Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders, Vision Disorder, Neurological Manifestations, Eye Diseases, Hereditary, Eye Diseases, Eye Disorders Congenital, Retinal Disease | SEPOFARSEN | Its record names the disease | ClinicalTrials.gov | |
| NCT01521793 | Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) | Phase 1 | 27 | LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa) | ZURETINOL ACETATE | Its record names the disease | ClinicalTrials.gov | |
| NCT05203939 | Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis | Phase 1/2 | 22 | Retinitis Pigmentosa, Leber Congenital Amaurosis | BALURETGENE PARVEC | Its record names the disease | ClinicalTrials.gov | |
| NCT00516477 | Safety Study in Subjects With Leber Congenital Amaurosis | Phase 1 | 12 | Leber Congenital Amaurosis | VORETIGENE NEPARVOVEC | Its record names the disease | ClinicalTrials.gov | |
| NCT01208389 | Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2 | Phase 1/2 | 12 | Leber Congenital Amaurosis | VORETIGENE NEPARVOVEC | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 11
See all 11 trialsComparisons in its trials6
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Intervention vs Control: deaths from any cause | 0 of 21 | 0 of 10 | 31 | NCT00999609 | Trial comparisons |
| Intervention vs Control: serious adverse events | 2 of 20 | 0 of 9 | 29 | NCT00999609 | Trial comparisons |
| QR-110 Low Dose vs QR-110 Mid Dose: Frequency and Severity of Non-ocular Adverse Events | 6 of 6 | 5 of 5 | 11 | NCT03140969 | Trial comparisons |
| QR-110 Low Dose vs QR-110 Mid Dose: Frequency and Severity of Ocular Adverse Events in the Treatment and Contralateral Eyes | 6 of 6 | 5 of 5 | 11 | NCT03140969 | Trial comparisons |
| QR-110 Low Dose vs QR-110 Mid Dose: deaths from any cause | 0 of 6 | 0 of 5 | 11 | NCT03140969 | Trial comparisons |
| QR-110 Low Dose vs QR-110 Mid Dose: serious adverse events | 2 of 6 | 4 of 5 | 11 | NCT03140969 | Trial comparisons |
Papers from its trials17
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0018998
GET https://conductscience.org/api/diseases/v1/MONDO_0018998/drugs