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ORPHA:698012

Fibromuscular dysplasia

low confidenceDisorder

Also known as: FMD

Publications

8,636

Trials

8

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Orphanet entry

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    8,636 matched papers (4,411 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    8 matched on ClinicalTrials.gov (2 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?

8,636

8,636 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=5449) is 41.

8,636 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).

4,411 in the last 10 years · low confidence

Phrase hits: 8,636 · MeSH hits: 0

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
    Persu A9 papers · 2026

    Division of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, 1200, Belgium.

    Papers in Europe PMC
  2. 02
    Stoenoiu MS8 papers · 2026

    Department of Internal Medicine, Institut de Recherche Expérimentale et Clinique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Rheumatology, Brussels, Belgium.

    Papers in Europe PMC
  3. 03
    Zedde M7 papers · 2026

    Neurology Unit, Stroke Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Viale Risorgimento 80, Reggio Emilia, 42123, Italy. zedde.marialuisa@ausl.re.it.

    Papers in Europe PMC
  4. 04
    Pascarella R5 papers · 2026

    Neuroradiology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

    Papers in Europe PMC
  5. 05
    Robberechts T5 papers · 2026

    Department of Nephrology and Arterial Hypertension, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Ixelles, Belgium.

    Papers in Europe PMC
  6. 06
    Antonenko K4 papers · 2026

    Department of Neurology, Inselspital University Hospital, Bern, Switzerland.

    Papers in Europe PMC
  7. 07
    Gornik HL4 papers · 2026

    University Hospitals Harrington Heart and Vascular Institute, Cleveland, OH, USA.

    Papers in Europe PMC
  8. 08
    Hayes SN4 papers · 2026

    Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  9. 09
    Heldner MR4 papers · 2026

    Department of Neurology, Inselspital University Hospital, Bern, Switzerland.

    Papers in Europe PMC
  10. 10
    Henkin S4 papers · 2026

    Heart and Vascular Center, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).

low confidence · 90.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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

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 2026-07-26

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.

"Fibromuscular dysplasia"

Run this search on Europe PMC

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

"Fibromuscular dysplasia"

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: 8 interventional · 11 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: FMD

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 2026-07-27T20:49:00.860Z