ORPHA:88919
Autosomal recessive Alport syndrome
Publications
5,050
Trials
1
Interventional, condition-specific
Researchers
1,227
Distinct authors in sample
Gene link
COL4A3, COL4A4
Definitive
Readiness
5/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008762
- OMIM:203780
- UMLS:C4746745
Additional Mondo synonyms (2)
Alport syndrome 2, autosomal recessive · Alport syndrome, autosomal recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — COL4A3, COL4A4
- LiteraturePresent
5,050 matched papers (3,717 in last 10 years) Source
- Phenotype characterisedPresent
14 HPO annotations (e.g. Stage 5 chronic kidney disease; Hearing impairment; Nephritis) Source
- Animal modelPresent
13 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (COL4A3, COL4A4).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
14
Associated phenotypes · MONDO:0008762
- Stage 5 chronic kidney disease
- Hearing impairment
- Nephritis
- Nephrotic syndrome
- Renal insufficiency
Showing 5 of 14 — open Monarch for the full list.
Animal models (Monarch / Alliance)
13
Model associations linked to this Mondo ID
- Col4a3tm1Dec/Col4a3tm1Dec [background:] involves: 129X1/SvJ * C57BL/6·MGI:3510446·Mus musculus
- Col4a3tm1Jhm/Col4a3tm1Jhm [background:] involves: 129S1/Sv * 129X1/SvJ·MGI:2176903·Mus musculus
- Col4a3tm1Dec/Col4a3tm1Dec [background:] 129-Col4a3tm1Dec/J·MGI:4452030·Mus musculus
- Mpv17/Mpv17 [background:] CFW-Mpv17/J·MGI:3624035·Mus musculus
- Col4a3tm1Dec/Col4a3tm1Dec [background:] 129X1/SvJ-Col4a3tm1Dec·MGI:3510458·Mus musculus
- Col4a4m1Btlr/Col4a4m1Btlr [background:] C57BL/6J-Col4a4m1Btlr·MGI:4838199·Mus musculus
- Col4a4bwk/Col4a4bwk [background:] D2.NON(NZO)-Col4a4bwk/GrsrJ·MGI:5696196·Mus musculus
- Col4a4bwk/Col4a4bwk [background:] 129S1.NON(NZO)-Col4a4bwk/PgnJ·MGI:5696200·Mus musculus
- Col4a3tm1Jhm/Col4a3tm1Jhm Mmp9tm1Tvu/Mmp9tm1Tvu [background:] involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ·MGI:3510654·Mus musculus
- Col4a4bwk/Col4a4bwk [background:] NON;NZO-Col4a4bwk/J·MGI:5696188·Mus musculus
- Col4a4m1H/Col4a4m1H [background:] involves: C3H/HeH * C57BL/6J·MGI:6501951·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
5,050
5,050 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,050 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
3,717 in the last 10 years · low confidence
Phrase hits: 378 · MeSH hits: 0
Who's working on it?
1,227
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Savige J20 papers · 2026
Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Parkville, VIC, 3050, Australia. jasavige@unimelb.edu.au.
Papers in Europe PMC - 02Zhang Y13 papers · 2025
Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China.
Papers in Europe PMC - 03Nozu K11 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 04Ding J10 papers · 2023
Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China. djnc_5855@126.com.
Papers in Europe PMC - 05Gross O8 papers · 2026
Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, 37075 Göttingen, Germany.
Papers in Europe PMC - 06Yamamura T8 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Papers in Europe PMC - 07Zhang H8 papers · 2026
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 08Lennon R7 papers · 2026
Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.
Papers in Europe PMC - 09Miner JH7 papers · 2026
Renal Division, Washington University School of Medicine, Saint Louis, Missouri.
Papers in Europe PMC - 10Wang F7 papers · 2023
Department of Pediatrics, Peking University First Hospital, No.1 Xi An Men Da Jie, Beijing, 100034, People's Republic of China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 19 trials are registered for Alport syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07523581·RECRUITING·EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety
Not reviewed·Conditions: Alport Syndrome, X-Linked · Alport Syndrome, Autosomal Recessive·Matched via name phrase
Broader category: Alport syndrome
19
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06731192·NOT YET RECRUITING·Human Umbilical Cord Mesenchymal Stem Cells for Alport Syndrome
Not reviewed·Conditions: Alport Syndrome·Matched via name phrase
- NCT05003986·RECRUITING·Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases
Not reviewed·Conditions: Focal Segmental Glomerulosclerosis · Minimal Change Disease · Immunoglobulin A Nephropathy · IgA Vasculitis·Matched via name phrase
- NCT04571658·RECRUITING·NEPTUNE Match Study
Not reviewed·Conditions: Nephrotic Syndrome in Children · Focal Segmental Glomerulosclerosis · Minimal Change Disease · Minimal Change Nephrotic Syndrome·Matched via name phrase
- NCT05133050·NOT YET RECRUITING·Safety and Efficacy of ACEI in Alport Syndrome Patients With COL4A3/COL4A4/COL4A5 Variants
Not reviewed·Conditions: Alport Syndrome·Matched via name phrase
- NCT07211685·RECRUITING·A Study to Learn About How Well BAY 3401016 Works in Adults With Alport Syndrome
Not reviewed·Conditions: Alport Syndrome·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 15 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (14)
- isrctn·ISRCTN12014920·No longer recruiting·Study drug ELX-02 for patients with Alport syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508218-41-00·Authorised, recruiting·A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523425-17-00·Authorised, recruiting·PODOMOUNT-Basket, a Phase II, multicentre, randomised, 2-arm parallel-group, double-blind, placebo-controlled basket trial to assess safety, tolerability, PK, and efficacy of BI 764198 in four proteinuric kidney diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-516471-33-00·Authorised, ongoing·(22419) A randomized, double-blind, placebo-controlled, parallel group Phase 2a study with an extension phase to evaluate the efficacy and safety of BAY 3401016 in participants aged 18 to 45 with Alport syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2023-509638-20-00·Cancelled·Vonafexor fixed dose-escalation safety and proof-of-concept study in patients with at risk of progression Alport syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-512964-73-00·Cancelled·A Phase II, Multi-center, Open-Label Study to Assess Safety, Tolerability, Efficacy and Pharmacokinetics of R3R01 in Alport Syndrome Patients with Uncontrolled Proteinuria on ACE/ARB Inhibition and in Patients with Primary Steroid-Resistant Focal Segmental Glomerulosclerosis
skipped — LLM skipped (--skip-llm)
- ctis·2023-505497-14-00·Authorised, ongoing·A Phase 2, Open-Label, Single-Arm, Cohort Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Sparsentan Treatment in Pediatric Subjects with Selected Proteinuric Glomerular Diseases (EPPIK)
skipped — LLM skipped (--skip-llm)
- ctis·2023-508502-18-00·Authorised, ongoing·DOUBLE PRO-TECT Alport: A confirmatory, multicenter, randomized, double-blind, placebo-controlled clinical trial to assess the effect of Dapagliflozin on the progression of chronic kidney disease in adolescent and young adult patients with Alport syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2023-505292-73-00·Cancelled·A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of the NOX1/4 Inhibitor Setanaxib in Patients with Alport Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2022-502319-12-00·Cancelled·A study to learn how safe the study treatment BAY3401016 is, how it affects the body and how it moves into, through, and out of the body when a single amount is given to healthy male participants
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Autosomal recessive Alport syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Autosomal recessive Alport syndrome" OR "Alport syndrome 2, autosomal recessive" OR "Alport syndrome, autosomal recessive") OR ("COL4A3" OR "COL4A3 syndrome" OR "COL4A3-related" OR "COL4A4" OR "COL4A4 syndrome" OR "COL4A4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive Alport syndrome" OR "Alport syndrome 2, autosomal recessive" OR "Alport syndrome, autosomal recessive"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Alport syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (5050) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T03:25:46.303Z