ORPHA:88917
X-linked Alport syndrome
Publications
3,845
91.7th percentile
Trials
2
Interventional, condition-specific
Researchers
1,201
Distinct authors in sample
Gene link
COL4A5
Definitive
Readiness
5/6
Stages with a signal
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010520
- OMIM:301050
- UMLS:C4746986
Additional Mondo synonyms (3)
Alport syndrome 1, X-linked, X-linked dominant · Alport syndrome, X-linked · nephropathy and deafness, X-linked
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 — COL4A5
- LiteraturePresent
3,845 matched papers (2,734 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Nephritis; Nephrotic syndrome; Renal insufficiency) Source
- Animal modelPresent
5 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
2 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 (COL4A5).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
20
Associated phenotypes · MONDO:0010520
- Nephritis
- Nephrotic syndrome
- Renal insufficiency
- Reduced epidermal collagen IV alpha 5 chain staining
- Glomerular basement membrane lamellation
Showing 5 of 20 — open Monarch for the full list.
Animal models (Monarch / Alliance)
5
Model associations linked to this Mondo ID
- Col4a5tm1Yseg/Col4a5+ [background:] B6.Cg-Col4a5tm1Yseg·MGI:3610502·Mus musculus
- Col4a5tm1Yseg/Y [background:] B6.Cg-Col4a5tm1Yseg·MGI:3610503·Mus musculus
- Col4a5em1Keha/Y [background:] C57BL/6J-Col4a5em1Keha·MGI:6479076·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?
3,845
3,845 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
3,845 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).
2,734 in the last 10 years · high confidence · 91.7th percentile (publications denominator)
Phrase hits: 785 · MeSH hits: 0
Who's working on it?
1,201
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.
- 01Nozu K14 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Papers in Europe PMC - 02Savige J14 papers · 2026
Department of Medicine (Melbourne Health), The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 03Yamamura T10 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Papers in Europe PMC - 04Horinouchi T9 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Papers in Europe PMC - 05Gross O8 papers · 2026
Department of Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
Papers in Europe PMC - 06Zhang Y8 papers · 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 07Zhang J7 papers · 2025
Department of Nephrology and Rheumatology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai 200062, China.
Papers in Europe PMC - 08Li Y6 papers · 2026
Department of Sports Medicine, The Affiliated Calmette Hospital of Kunming Medical University, Kunming, Yunnan, China.
Papers in Europe PMC - 09Sakakibara N6 papers · 2026
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.
Papers in Europe PMC - 10Sun L6 papers · 2026
Department of Nephrology and Rheumatology, Shanghai Children's Hospital, Children's Hospital of Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 18 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
2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).
high confidence · 84.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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
18
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 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · 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 (31)
- isrctn·ISRCTN12014920·No longer recruiting·Study drug ELX-02 for patients with Alport syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523275-27-00·Authorised, recruiting·HELIOS: An Open-Label, Long-Term Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519779-24-00·Authorised, ongoing·GFM-VEXAS-MMB: A single-arm phase II with safety run-in multicenter study of momelotinib in patients with VEXAS syndrome with or without associated myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-520407-27-00·Expired·APOLLO: A Randomized, Double-Blind, Placebo-Controlled Study of Bitopertin to Evaluate the Efficacy, Safety, and Tolerability in Participants with
Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516347-41-00·Authorised, ongoing·PAXIS: A randomized, double-blind, placebo-controlled dose-finding phase 2 study (Part 1) followed by an open-label period (Part 2) to assess the efficacy and safety of pacritinib in patients with VEXAS syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-512700-18-00·Expired·Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518989-27-01·Cancelled·Treating Leg Symptoms in Women with X-linked Adrenoleukodystrophy: A Key to Improving Sleep and Gait Performance
skipped — LLM skipped (--skip-llm)
- ctis·2023-509390-23-00·Authorised, ongoing·A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients with X-linked Hypophosphatemia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
skipped — LLM skipped (--skip-llm)
- ctis·2024-514466-38-00·Expired·A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects with Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512695-34-00·Cancelled·A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-513124-41-00·Cancelled·Influencing Progression of Airway Disease in Primary Antibody Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-512790-27-00·Cancelled·A phase I/II, non randomized, monocentric open-label study of autologous CD34+ cells transduced with the G1XCGD lentiviral vector in patients with X-linked chronic granulomatous disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-511411-25-00·Expired·Phase 3 Follow-up Study of AAV5-hRKp.RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated with Variants in the RPGR gene
skipped — LLM skipped (--skip-llm)
- ctis·2024-513774-21-00·Expired·AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-102 TREATMENT ON DISEASE PROGRESSION PRIOR TO HUMAN STEM CELL TRANSPLANT (HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2023-504419-34-00·Expired·A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations.
skipped — LLM skipped (--skip-llm)
- ctis·2024-512637-32-00·Expired·ASPIRO: A Phase 1/2/3, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients
skipped — LLM skipped (--skip-llm)
- ctis·2023-506735-15-00·Cancelled·MT-7117-A-302 Study: A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents with Erythropoietic Protoporphyria or X-Linked Protoporphyria
skipped — LLM skipped (--skip-llm)
- ctis·2023-504534-21-00·Cancelled·Open-label extension study with Tadekinig alfa (r-hIL-18BP) to monitor safety and tolerability in patients with IL-18 driven monogenic autoinflammatory conditions: NLRC4 mutation and XIAP deficiency
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)
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 X-linked 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.
("X-linked Alport syndrome" OR "Alport syndrome 1, X-linked, X-linked dominant" OR "Alport syndrome, X-linked" OR "nephropathy and deafness, X-linked") OR ("COL4A5" OR "COL4A5 syndrome" OR "COL4A5-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked Alport syndrome" OR "Alport syndrome 1, X-linked, X-linked dominant" OR "Alport syndrome, X-linked" OR "nephropathy and deafness, X-linked"
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: 2 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
Ingested 2026-07-27T03:25:24.337Z