ORPHA:205
Crigler-Najjar syndrome
Also known as: Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency
Publications
1,599
85.5th percentile
Trials
7
Interventional, condition-specific
Researchers
1,084
Distinct authors in sample
Gene link
—
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with jaundice with a risk of developing bilirubin .
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009044
- MeSH:D003414
- UMLS:C5551003
- NCIT:C84656
Additional Mondo synonyms (6)
Crigler Najjar Syndrome · UGT deficiency · bilirubin UDP glucuronyl transferase deficiency · bilirubin uridinediphosphate glucuronosyltransferase deficiency · bilirubin-UGT deficiency · hereditary unconjugated hyperbilirubinemia
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,599 matched papers (674 in last 10 years) Source
- Phenotype characterisedPresent
48 HPO annotations (e.g. Unconjugated hyperbilirubinemia; Elevated circulating hepatic transaminase concentration; Reduced tissue UDP-glucuronyl-transferase activity) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationPartial
5 EMA designations (none yet with FDA orphan-indication approval) — e.g. heterologous human adult liver-derived stem cells Source
- Interventional trialPresent
7 matched on ClinicalTrials.gov (3 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
48
Associated phenotypes · MONDO:0009044
- Unconjugated hyperbilirubinemia
- Elevated circulating hepatic transaminase concentration
- Reduced tissue UDP-glucuronyl-transferase activity
- Jaundice
- Kernicterus
Showing 5 of 48 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Ugt1tm1.1Afmu/Ugt1tm1.1Afmu [background:] involves: 129 * C57BL/6 * SJL·MGI:5320595·Mus musculus
- Ugt1tm1Rhtu/Ugt1tm1Rhtu [background:] involves: 129 * C57BL/6·MGI:3785397·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)
5
Designations · no FDA orphan-indication approval yet
- EMA heterologous human adult liver-derived stem cellsTreatment of Crigler-Najjar syndrome · 29/11/2007 · PositiveEMA designation
- EMA modified mRNA encoding the UGT1A1 proteinTreatment of Crigler-Najjar syndrome · 27/06/2016 · PositiveEMA designation
- EMA adeno-associated viral vector serotype 8 containing the human UGT1A1 gene (volrubigene ralaparvovec)Treatment of Crigler-Najjar syndrome · 15/10/2014 · PositiveEMA designation
- EMA adeno-associated viral vector serotype 8 containing the human UGT1A1 gene (volrubigene ralaparvovec)Treatment of Crigler-Najjar syndrome · 22/08/2014 · WithdrawnEMA designation
- EMA adeno-associated viral vector serotype 8 containing the human UGT1A1 gene (volrubigene ralaparvovec)Treatment of Crigler-Najjar syndrome · 18/11/2016 · WithdrawnEMA designation
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
4
Drugs / clinical candidates · MONDO_0009044
- IMLIFIDASE·phase 2
- BIVALIRUDIN·phase 1 2
- HEPARIN·phase 1 2
- VOLRUBIGENE RALAPARVOVEC·phase 1 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,599
1,599 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.
1,599 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).
674 in the last 10 years · high confidence · 85.5th percentile (publications denominator)
Phrase hits: 1,599 · MeSH hits: 0
Who's working on it?
1,084
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.
- 01Bortolussi G9 papers · 2024
1 International Centre for Genetic Engineering and Biotechnology , 34149 Trieste, Italy .
Papers in Europe PMC - 02Muro AF9 papers · 2024
Mouse Molecular Genetics, Molecular Medicine and Cellular Immunology Groups, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
Papers in Europe PMC - 03Bosma PJ8 papers · 2024
Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Li Y6 papers · 2025
Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Papers in Europe PMC - 05Mingozzi F6 papers · 2024
Genethon, Evry, France; Universite' Pierre et Marie Curie - Paris 6, Paris, France; INSERM U951, Evry, France.
Papers in Europe PMC - 06
- 07Junge N5 papers · 2023
Department of Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany.
Papers in Europe PMC - 08Maruo Y5 papers · 2024
Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan. maruo@belle.shiga-med.ac.jp
Papers in Europe PMC - 09
- 10Saxena R5 papers · 2017
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 11 September 2026
7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).
high confidence · 90.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06518005·RECRUITING·Efficacy and Safety of GNT0003 Following Imlifidase Pre-treatment in Severe Crigler-Najjar Syndrome
Not reviewed·Conditions: Crigler-Najjar Syndrome·Matched via name phrase
- NCT06641154·RECRUITING·Gene Therapy for Crigler Najjar Syndrome Type I (AlphaCN)
Not reviewed·Conditions: Crigler-Najjar Syndrome Type I·Matched via name phrase
- NCT03466463·RECRUITING·Gene Therapy for Severe Crigler Najjar Syndrome
Not reviewed·Conditions: Crigler-Najjar Syndrome·Matched via name phrase
Observational and natural-history studies
5 observational studies match 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29
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 (4)
- ctis·2023-510405-18-00·Authorised, ongoing·An open-label, phase 2 trial to evaluate the efficacy and safety of a single intravenous administration of GNT0003 (an adeno-associated viral vector expressing the UGT1A1 transgene) following imlifidase pre-treatment in participants aged 16 years and older with severe Crigler-Najjar syndrome requiring daily phototherapy and presenting pre-existing anti-AAV8 antibodies.
skipped — LLM skipped (--skip-llm)
- ctis·2023-507007-60-00·Authorised, ongoing·CareCN: A phase I/II, open-label, study to evaluate the safety and efficacy of an intravenous injection of GNT0003 (Adeno-associated Viral Vector expressing the UGT1A1 transgene) in patients with severe Crigler-Najjar syndrome requiring phototherapy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN99654100·No longer recruiting·A first-in-human phase I/II study to evaluate the safety, tolerability, anti-cancer activity and metabolism of SN38-SPL9111 (DEP®-SN38), an SN38 dendrimer conjugate, in patients with advanced solid tumours.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13101129·No longer recruiting·Influence of dexmedetomidine on hemodynamic parameters in critical ill patients
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 Crigler-Najjar 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.
("Crigler-Najjar syndrome" OR "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" OR "Bilirubin-UGT deficiency" OR "Crigler Najjar Syndrome" OR "UGT deficiency" OR "bilirubin UDP glucuronyl transferase deficiency" OR "hereditary unconjugated hyperbilirubinemia")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Crigler-Najjar syndrome" OR "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" OR "Bilirubin-UGT deficiency" OR "Crigler Najjar Syndrome" OR "UGT deficiency" OR "bilirubin UDP glucuronyl transferase deficiency" OR "hereditary unconjugated hyperbilirubinemia"
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: 7 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-26T12:53:55.144Z