Primary hyperoxaluria

Summary

Primary hyperoxaluria (MONDO:0002474) is a disease with 4 cohort genes and 24 clinical trials. Top therapeutic interventions include lumasiran, nedosiran sodium, and stiripentol.

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 4
• ClinVar variants: 52
• Phenotypes (HPO): 33
• Clinical trials: 24

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000		Worldwide	Validated
Point prevalence	1-9 / 1 000 000		Worldwide	Validated
Point prevalence	1-9 / 1 000 000	0.2	Germany	Validated

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0003159	Hyperoxaluria	Very frequent (80-99%)
HP:0008672	Calcium oxalate nephrolithiasis	Very frequent (80-99%)
HP:0000121	Nephrocalcinosis	Frequent (30-79%)
HP:0000164	Abnormality of the dentition	Frequent (30-79%)
HP:0000488	Retinopathy	Frequent (30-79%)
HP:0000543	Optic disc pallor	Frequent (30-79%)
HP:0000648	Optic atrophy	Frequent (30-79%)
HP:0000790	Hematuria	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0001942	Metabolic acidosis	Frequent (30-79%)
HP:0002653	Bone pain	Frequent (30-79%)
HP:0002757	Recurrent fractures	Frequent (30-79%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Frequent (30-79%)
HP:0004417	Intermittent claudication	Frequent (30-79%)
HP:0005789	Generalized osteosclerosis	Frequent (30-79%)
HP:0006479	Abnormality of the dental pulp	Frequent (30-79%)
HP:0007663	Reduced visual acuity	Frequent (30-79%)
HP:0009830	Peripheral neuropathy	Frequent (30-79%)
HP:0011072	Rootless teeth	Frequent (30-79%)
HP:0011506	Choroidal neovascularization	Frequent (30-79%)
HP:0012072	Aciduria	Frequent (30-79%)
HP:0012622	Chronic kidney disease	Frequent (30-79%)
HP:0012722	Heart block	Frequent (30-79%)
HP:0025324	Arterial occlusion	Frequent (30-79%)
HP:0030880	Raynaud phenomenon	Frequent (30-79%)
HP:0031981	Elevated urine glycolate	Frequent (30-79%)
HP:0100758	Gangrene	Frequent (30-79%)
HP:0001063	Acrocyanosis	Occasional (5-29%)
HP:0002150	Hypercalciuria	Occasional (5-29%)
HP:0003774	Stage 5 chronic kidney disease	Occasional (5-29%)
HP:0000965	Cutis marmorata	Very rare (<1-4%)
HP:0001638	Cardiomyopathy	Very rare (<1-4%)
HP:0025520	Calcinosis cutis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	primary hyperoxaluria
Mondo ID	MONDO:0002474
MeSH	D006960
OMIM	259900
Orphanet	416
DOID	DOID:2977
ICD-10-CM	E72.53
NCIT	C123158
SNOMED CT	17901006
UMLS	C0020501
MedGen	5697
GARD	0016530
MedDRA	10020703
NORD	1608
Is cancer (heuristic)	no

Also known as: hyperoxaluria, primary · primary hyperoxaluria

Data availability: 52 ClinVar variants · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn carbohydrate metabolic disorder › primary hyperoxaluria

Related subtypes (17): GLUT1 deficiency syndrome, disorder of glycogen metabolism, G6PD deficiency, hyperinsulinemic hypoglycemia, multiple carboxylase deficiency, disorder of glycolysis, disorder of fructose metabolism, disorder of galactose metabolism, disorder of carbohydrate transmembrane transport and absorption, disorders of pentose/polyol metabolism, pyruvate dehydrogenase deficiency, disorder of gluconeogenesis, mucopolysaccharidosis, oligosaccharidosis, lactose intolerance, congenital disorder of deglycosylation 1, disorder of galactose and fructose metabolism

Subtypes (3): primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

52 retrieved; paginated sample, class counts are floors:

26 pathogenic, 15 pathogenic/likely pathogenic, 6 likely pathogenic, 4 conflicting classifications of pathogenicity, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
140584	NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
188774	NM_000030.3(AGXT):c.777-1G>C	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189161	NM_000030.3(AGXT):c.976del (p.Val326fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204065	NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204072	NM_000030.3(AGXT):c.107G>A (p.Arg36His)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204079	NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204083	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204091	NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204093	NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204105	NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204109	NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)	AGXT	Pathogenic	criteria provided, single submitter
204118	NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204128	NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204154	NM_000030.3(AGXT):c.680+1G>A	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204159	NM_000030.3(AGXT):c.846+1G>T	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204168	NM_000030.3(AGXT):c.847-1G>C	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204176	NM_000030.3(AGXT):c.126del (p.Leu43fs)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
204185	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204190	NM_000030.3(AGXT):c.570del (p.Thr191fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204191	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204192	NM_000030.3(AGXT):c.577dup (p.Leu193fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
204201	NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts
2577088	NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)	AGXT	Pathogenic	criteria provided, single submitter
2681157	NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)	AGXT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2681179	NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)	AGXT	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
SLC26A6	Limited	Autosomal dominant	primary hyperoxaluria

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MOCOS	Orphanet:93602	Xanthinuria type II
AGXT	Orphanet:93598	Primary hyperoxaluria type 1
GRHPR	Orphanet:93599	Primary hyperoxaluria type 2

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC26A6	HGNC:14472	ENSG00000225697	Q9BXS9	Solute carrier family 26 member 6	gencc
MOCOS	HGNC:18234	ENSG00000075643	Q96EN8	Molybdenum cofactor sulfurase	clinvar
AGXT	HGNC:341	ENSG00000172482	P21549	Alanine–glyoxylate aminotransferase	clinvar
GRHPR	HGNC:4570	ENSG00000137106	Q9UBQ7	Glyoxylate reductase/hydroxypyruvate reductase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC26A6	Solute carrier family 26 member 6	Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis.
MOCOS	Molybdenum cofactor sulfurase	Sulfurates the molybdenum cofactor.
AGXT	Alanine–glyoxylate aminotransferase	Peroxisomal aminotransferase that catalyzes the transamination of glyoxylate to glycine and contributes to the glyoxylate detoxification.
GRHPR	Glyoxylate reductase/hydroxypyruvate reductase	Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities.

Protein-family classification

Druggable: 3 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.75

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	19.4×	0.076
Enzyme (other)	2	6.0×	0.076
Other/Unknown	1	0.5×	0.962

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC26A6	Transporter	yes		SLC26A/SulP_fam, STAS_dom, SLC26A/SulP_dom
MOCOS	Other/Unknown	no		Aminotrans_V_dom, MoCF_Sase_C, MOCOS_middle
AGXT	Enzyme (other)	yes	2.6.1.44	Aminotrans_V_dom, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small
GRHPR	Enzyme (other)	yes	1.1.1.26	D-isomer_2_OHA_DH_cat_dom, D-isomer_DH_NAD-bd, D-isomer_DH_CS

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
liver	3
right lobe of liver	3
descending thoracic aorta	1
mucosa of transverse colon	1
popliteal artery	1
secondary oocyte	1
endometrium epithelium	1
right adrenal gland	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC26A6	180	ubiquitous	marker	mucosa of transverse colon, descending thoracic aorta, popliteal artery
MOCOS	193	ubiquitous	marker	secondary oocyte, right lobe of liver, liver
AGXT	125	tissue_specific	marker	right lobe of liver, liver, endometrium epithelium
GRHPR	292	ubiquitous	marker	right lobe of liver, liver, right adrenal gland

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GRHPR	2,785
AGXT	2,648
MOCOS	1,785
SLC26A6	1,442

Intra-cohort edges

A	B	Sources
AGXT	GRHPR	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
AGXT	P21549	17
GRHPR	Q9UBQ7	4
SLC26A6	Q9BXS9	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MOCOS	Q96EN8	80.88

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 4 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Glyoxylate metabolism and glycine degradation	2	380.7×	1e-04	AGXT, GRHPR
Molybdenum cofactor biosynthesis	1	407.9×	0.013	MOCOS
Inorganic anion exchange by SLC26 transporters	1	317.2×	0.013	SLC26A6
Protein localization	1	47.6×	0.046	AGXT
Metabolism of water-soluble vitamins and cofactors	1	45.3×	0.046	MOCOS
Peroxisomal protein import	1	43.3×	0.046	AGXT
R-HSA-425393	1	32.4×	0.051	SLC26A6
Metabolism of vitamins and cofactors	1	29.1×	0.051	MOCOS
Metabolism	2	5.8×	0.053	MOCOS, AGXT
Metabolism of amino acids and derivatives	1	16.9×	0.069	AGXT
SLC-mediated transmembrane transport	1	14.8×	0.072	SLC26A6
Transport of small molecules	1	6.3×	0.150	SLC26A6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
oxalic acid secretion	2	2808.7×	5e-06	SLC26A6, AGXT
glyoxylate metabolic process	2	1404.3×	1e-05	AGXT, GRHPR
formate transport	1	4213.0×	0.002	SLC26A6
mannitol transmembrane transport	1	4213.0×	0.002	SLC26A6
molybdopterin cofactor metabolic process	1	2106.5×	0.002	MOCOS
dicarboxylic acid metabolic process	1	2106.5×	0.002	GRHPR
positive regulation of dipeptide transmembrane transport	1	2106.5×	0.002	SLC26A6
obsolete glycine biosynthetic process, by transamination of glyoxylate	1	1404.3×	0.002	AGXT
molybdopterin cofactor biosynthetic process	1	1404.3×	0.002	MOCOS
intracellular pH elevation	1	1404.3×	0.002	SLC26A6
glyoxylate catabolic process	1	1053.2×	0.002	AGXT
L-cysteine catabolic process	1	1053.2×	0.002	AGXT
L-alanine catabolic process	1	1053.2×	0.002	AGXT
protein kinase C signaling	1	1053.2×	0.002	SLC26A6
cellular response to fructose stimulus	1	1053.2×	0.002	SLC26A6
carboxylic acid metabolic process	1	702.2×	0.003	GRHPR
Mo-molybdopterin cofactor biosynthetic process	1	601.9×	0.003	MOCOS
oxalate transport	1	601.9×	0.003	SLC26A6
epithelial fluid transport	1	526.6×	0.004	SLC26A6
transepithelial chloride transport	1	468.1×	0.004	SLC26A6
L-serine metabolic process	1	421.3×	0.004	AGXT
angiotensin-activated signaling pathway	1	383.0×	0.004	SLC26A6
estrous cycle	1	351.1×	0.004	SLC26A6
intestinal absorption	1	300.9×	0.005	SLC26A6
transepithelial transport	1	300.9×	0.005	SLC26A6
sulfate transmembrane transport	1	300.9×	0.005	SLC26A6
bicarbonate transport	1	200.6×	0.007	SLC26A6
sperm capacitation	1	168.5×	0.008	SLC26A6
regulation of intracellular pH	1	150.5×	0.008	SLC26A6
chloride transport	1	113.9×	0.011	SLC26A6

Therapeutics

Drugs indicated for this disease

1 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Nedosiran Sodium	Approved (phase 4)
Lisinopril Anhydrous	Phase 3 (in late-stage trials)
Losartan	Phase 3 (in late-stage trials)
Lumasiran	Phase 3 (in late-stage trials)
Reloxaliase	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Betaine, Stiripentol.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4

Druggability breadth: 3 of 4 evidence-associated genes (75%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC26A6	0	0
MOCOS	0	0
AGXT	0	0
GRHPR	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
AGXT	8	Binding:8
SLC26A6	5	Binding:5
GRHPR	2	Binding:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
AGXT	2.6.1.44, 2.6.1.51	alanine-glyoxylate transaminase, serine-pyruvate transaminase
GRHPR	1.1.1.26, 1.1.1.79, 1.1.1.81	glyoxylate reductase, glyoxylate reductase (NADP+), hydroxypyruvate reductase

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	3	SLC26A6, AGXT, GRHPR
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MOCOS

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
SLC26A6	5	—
MOCOS	0	—
AGXT	8	—
GRHPR	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 24.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE2	5
PHASE3	4
PHASE2/PHASE3	2
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00638703	PHASE2/PHASE3	COMPLETED	Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients
NCT01037231	PHASE2/PHASE3	COMPLETED	Phase 2/3 Oxabact Study
NCT03116685	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
NCT03905694	PHASE3	COMPLETED	A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1
NCT03938272	PHASE3	TERMINATED	An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria
NCT04152200	PHASE3	COMPLETED	A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1
NCT02000219	PHASE2	COMPLETED	Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis
NCT02012985	PHASE1/PHASE2	COMPLETED	Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria
NCT03350451	PHASE2	COMPLETED	An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1
NCT03391804	PHASE2	COMPLETED	Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia
NCT03819647	PHASE2	COMPLETED	Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria
NCT05001269	PHASE2	COMPLETED	Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function
NCT03392896	PHASE1	COMPLETED	Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
NCT00588562	Not specified	RECRUITING	Rare Kidney Stone Consortium Patient Registry
NCT02026388	Not specified	RECRUITING	Rare Kidney Stone Consortium Biobank
NCT05843851	Not specified	RECRUITING	Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT00589225	Not specified	COMPLETED	Primary Hyperoxaluria Mutation Genotyping
NCT00875823	Not specified	WITHDRAWN	International Registry for Primary Hyperoxaluria
NCT02124395	Not specified	COMPLETED	Health-related Quality of Life in Rare Kidney Stone
NCT02340689	Not specified	COMPLETED	Primary Hyperoxaluria Mutation Genotyping/Phenotyping
NCT04125472	Not specified	APPROVED_FOR_MARKETING	Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1
NCT05107830	Not specified	UNKNOWN	Phenotyping of Primary Hyperoxaluria
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LUMASIRAN	4	4
NEDOSIRAN SODIUM	4	1
STIRIPENTOL	4	1
RELOXALIASE	3	1
NEDOSIRAN	2	1