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ORPHA:558

Marfan syndrome

low confidenceDisorder

Also known as: MFS

Publications

28,422

Trials

27

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

FBN1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

MFS1 · Marfan syndrome type 1 · Marfan syndrome, type 1 · Marfan's syndrome

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FBN1

  2. LiteraturePresent

    28,422 matched papers (15,334 in last 10 years) Source

  3. Phenotype characterisedPresent

    181 HPO annotations (e.g. Mitral regurgitation; Emphysema; Tricuspid regurgitation) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 1 EMA designations (1 FDA orphan-indication approval) — e.g. losartan Source

  6. Interventional trialPresent

    27 matched on ClinicalTrials.gov (4 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 (FBN1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

181

Associated phenotypes · MONDO:0007947

  • Mitral regurgitation
  • Emphysema
  • Tricuspid regurgitation
  • Dolichocephaly
  • Megalocornea

Showing 5 of 181 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

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)

2

Designations · 1 with FDA orphan-indication approval

  • FDA losartanMarfan Syndrome · 2011-12-12 · Not FDA Approved for Orphan Indication
  • EMA allopurinolTreatment of Marfan syndrome · 25/03/2025 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0007947

CTD chemicals (MyDisease.info)

4 associated chemicals · 117 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Atenolol · therapeutic
  • Doxycycline · therapeutic
  • Losartan · therapeutic
  • Thiobarbituric Acid Reactive Substances · marker/mechanism

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Tryptophan metabolism; Glyoxylate and dicarboxylate metabolism; Metabolic pathways; Carbon metabolism; Endocrine resistance; MAPK signaling pathway

MyDisease.info · MONDO:0007947

Literature

Is anyone studying this?

28,422

28,422 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.

28,422 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).

15,334 in the last 10 years · low confidence

Phrase hits: 22,294 · MeSH hits: 595

Open Europe PMC search

Who's working on it?

1,180

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.

  1. 01
    Wang Y6 papers · 2026

    From the Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University.

    Papers in Europe PMC
  2. 02
    Humphrey JD5 papers · 2026

    Department of Biomedical Engineering, Yale University, New Haven, CT (D.W., B.V.R., C.C., D.S.L., Y.K., N.E., J.D.H.).

    Papers in Europe PMC
  3. 03
    Chen X4 papers · 2026

    Department of Mechanical Engineering, Graduate School of Sciences and Technology for Innovation, Yamaguchi University, Yamaguchi, Yamaguchi, Japan.

    Papers in Europe PMC
  4. 04
    He H4 papers · 2026

    Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan ,430022, China.

    Papers in Europe PMC
  5. 05
    Abdul Nabi H3 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic Arizona, Scottsdale, Arizona, USA.

    Papers in Europe PMC
  6. 06
    Ayoub C3 papers · 2026

    Mayo Clinic Arizona, Scottsdale, Arizona, USA.

    Papers in Europe PMC
  7. 07
    Badawi AH3 papers · 2026

    Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Cavinato C3 papers · 2026

    Department of Biomedical Engineering, Yale University, New Haven, CT (D.W., B.V.R., C.C., D.S.L., Y.K., N.E., J.D.H.).

    Papers in Europe PMC
  9. 09
    Chen Z3 papers · 2026

    From the Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University.

    Papers in Europe PMC
  10. 10
    Coselli JS3 papers · 2026

    Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Tex. Electronic address: jcoselli@bcm.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

27

interventional trials for this specific condition

27 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

27 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.7th percentile).

low confidence · 95.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

27 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

35 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

Open the complete matched search on ClinicalTrials.gov

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 81 · after dedupe 80 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 80 · 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 (80)

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 Marfan syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Marfan syndrome" OR "Marfan syndrome type 1" OR "Marfan syndrome, type 1" OR "Marfan's syndrome") OR (MESH:"Marfan Syndrome") OR ("FBN1" OR "FBN1 syndrome" OR "FBN1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Marfan Syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Marfan syndrome" OR "Marfan syndrome type 1" OR "Marfan syndrome, type 1" OR "Marfan's syndrome"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 27 interventional · 35 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MFS; MFS1

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • "Marfan syndrome type 1" also appears on ORPHA:284963

Ingested 2026-07-26T14:20:01.198Z