ORPHA:699068
Fontan-associated liver disease
Also known as: FALD
Publications
705
Trials
2
Interventional, condition-specific
Researchers
1,319
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.
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.”
2/6 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
705 matched papers (698 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
705
705 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=5449) is 41.
705 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
698 in the last 10 years · low confidence
Phrase hits: 705 · MeSH hits: 0
Who's working on it?
1,319
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.
- 01Kogiso T7 papers · 2026
Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Papers in Europe PMC - 02Opotowsky AR7 papers · 2026
Heart Institute, Cincinnati Children's Hospital University of Cincinnati College of Medicine Cincinnati OH USA.
Papers in Europe PMC - 03Shah AH6 papers · 2026
Section of Cardiology, Department of Internal Medicine, Max Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Papers in Europe PMC - 04Hilscher MB5 papers · 2026
Division of Gastroenterology and Hepatology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 05Inai K5 papers · 2026
Department of Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
Papers in Europe PMC - 06Jarasvaraparn C5 papers · 2026
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Riley Hospital for Children, Indiana University, 705 Riley Hospital Drive, ROC 4210, Indianapolis, Indiana 46202, United States. Electronic address: cjarasva@iu.edu.
Papers in Europe PMC - 07Sato M5 papers · 2026
Department of Cardiology, Fukuoka Children's Hospital, 5-1-1, Kashiiteriha, Higashi-Ku, Fukuoka City, Fukuoka, 813-0017, Japan.
Papers in Europe PMC - 08Tokushige K5 papers · 2026
Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo, Japan.
Papers in Europe PMC - 09Chen S4 papers · 2025
Division of Pediatric Cardiology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.
Papers in Europe PMC - 10Egbe AC4 papers · 2026
Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
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.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th 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.
- NCT06324396·RECRUITING·IMProving DRug Dosing and Outcomes for Single VEntricle Patients With Fontan Associated Liver Disease
Conditions: Fontan Circulation·Matched via name phrase
Observational and natural-history studies
2 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.
Recruiting or not-yet-recruiting
- NCT05213598·RECRUITING·Fontan Associated Liver Disease and the Evaluation of Biomarkers for Disease Severity Assessment
Conditions: Congenital Heart Disease·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Fontan-associated liver disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fontan-associated liver disease"
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 · 2 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
Synonyms dropped by stoplist: FALD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T20:50:52.315Z