Disease · MONDO_0009823
primary hyperoxaluria type 1
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. primary hyperoxaluria type 1. Diseases, record MONDO_0009823. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009823
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.
- Other names
- AGXT primary hyperoxaluria, PH1, glycolic aciduria, peroxisomal alanine-glyoxylate aminotransferase deficiency, primary hyperoxaluria caused by mutation in AGXT, primary hyperoxaluria type I
- Open Targets
- Highest stage of its drugs
- Approval, for 3 of its 5 drugs, from ClinicalTrials.gov, FDA and TTD
- Open Targets
Drugs5
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 |
|---|---|---|---|---|---|---|---|---|
| LUMASIRAN | CHEMBL4297779 | Oligonucleotide | Approval | ClinicalTrials.gov | 6 | 6 | 6 | Drugs and targets |
| NEDOSIRAN | CHEMBL4650244 | Oligonucleotide | Approval | TTD | 4 | 3 | 3 | Drugs and targets |
| LUMASIRAN SODIUM | CHEMBL4650275 | Oligonucleotide | Approval | FDA | 1 | 0 | 0 | Drugs and targets |
| BETAINE | CHEMBL95889 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| PYRIDOXAL PHOSPHATE | CHEMBL3181870 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
Targets3
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 |
|---|---|---|---|---|---|---|
| HAO1 | Hydroxyacid oxidase 1 mRNA | 2 | Hydroxyacid oxidase 1 mRNA RNAi inhibitor | Approval | https://conductscience.org/library/genes/54363 | Drugs and targets |
| BHMT | Betaine-homocysteine S-methyltransferase | 1 | Betaine-homocysteine S-methyltransferase substrate | Phase 2 | https://conductscience.org/library/genes/635 | Drugs and targets |
| BHMT2 | Betaine-homocysteine S-methyltransferase | 1 | Betaine-homocysteine S-methyltransferase substrate | Phase 2 | https://conductscience.org/library/genes/23743 | 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 |
|---|---|---|---|---|---|---|---|---|
| NCT02706886 | Study of Lumasiran in Healthy Adults and Patients With Primary Hyperoxaluria Type 1 | Phase 1/2 | 52 | 2020-01-30 | Primary Hyperoxaluria Type 1 (PH1) | LUMASIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT03681184 | A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1 | Phase 3 | 39 | 2021-01-19 | Primary Hyperoxaluria Type 1 (PH1) | LUMASIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT03847909 | A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 | Phase 2 | 35 | 2024-05-22 | Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2), Kidney Diseases, Urologic Diseases, Genetic Disease | NEDOSIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT03350451 | An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1 | Phase 2 | 20 | 2024-04-25 | PH1, Primary Hyperoxaluria, RNAi Therapeutic, siRNA, AGT | LUMASIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT03905694 | A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 | Phase 3 | 18 | 2021-07-19 | Primary Hyperoxaluria, Primary Hyperoxaluria Type 1 (PH1) | LUMASIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT00283387 | Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria | Phase 2 | 15 | 2013-01-01 | Hyperoxaluria | BETAINE | Its record names the disease | ClinicalTrials.gov |
| NCT06225882 | Retrospective and Prospective Follow-up of Patients With Primary Hyperoxaluria Type 1 Treated With Lumasiran in France. | 100 | Patients With PH1 Treated With Lumasiran in France | LUMASIRAN | Its record names the disease | ClinicalTrials.gov | ||
| NCT03392896 | Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria | Phase 1 | 43 | Primary Hyperoxaluria | NEDOSIRAN | Its record names the disease | ClinicalTrials.gov | |
| NCT01281878 | Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate | Phase 2 | 12 | Primary Hyperoxaluria Type I | PYRIDOXAL PHOSPHATE | Its record names the disease | ClinicalTrials.gov | |
| NCT04125472 | Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 | Primary Hyperoxaluria | LUMASIRAN | 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 |
|---|---|---|---|---|---|
| DCR-PHXC vs Placebo: deaths from any cause | 0 of 23 | 0 of 12 | 35 | NCT03847909 | Trial comparisons |
| DCR-PHXC vs Placebo: serious adverse events | 1 of 23 | 2 of 12 | 35 | NCT03847909 | Trial comparisons |
| Betaine vs Placebo: serious adverse events | 0 of 13 | 0 of 13 | 26 | NCT00283387 | Trial comparisons |
| Lumasiran (ALN-GO1): 1.0 mg/kg QM or 3.0 mg/kg Q3M vs Lumasiran (ALN-GO1): 3.0 mg/kg QM: Number of Participants With at Least One Adverse Event (AE) | 13 of 13 | 7 of 7 | 20 | NCT03350451 | Trial comparisons |
| Lumasiran (ALN-GO1): 1.0 mg/kg QM or 3.0 mg/kg Q3M vs Lumasiran (ALN-GO1): 3.0 mg/kg QM: deaths from any cause | 0 of 13 | 0 of 7 | 20 | NCT03350451 | Trial comparisons |
| Lumasiran (ALN-GO1): 1.0 mg/kg QM or 3.0 mg/kg Q3M vs Lumasiran (ALN-GO1): 3.0 mg/kg QM: serious adverse events | 4 of 13 | 3 of 7 | 20 | NCT03350451 | Trial comparisons |
Papers from its trials12
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
| PMID | Listed as | Trials listing it | Source |
|---|---|---|---|
| 41388232 | DERIVED | 1 | PubMed |
| 41343248 | DERIVED | 1 | PubMed |
| 40601241 | DERIVED | 2 | PubMed |
| 40193200 | DERIVED | 1 | PubMed |
| 39355649 | DERIVED | 1 | PubMed |
| 38332115 | DERIVED | 1 | PubMed |
| 36007597 | DERIVED | 1 | PubMed |
| 35913563 | DERIVED | 1 | PubMed |
| 34906487 | DERIVED | 1 | PubMed |
| 33985991 | DERIVED | 1 | PubMed |
1 to 10 of 12
See all 12 papers from its trialsData 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_0009823
GET https://conductscience.org/api/diseases/v1/MONDO_0009823/drugs