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ORPHA:60030

Loeys-Dietz syndrome

low confidenceDisorder

Also known as: Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Publications

111,164

Trials

3

Interventional, condition-specific

Researchers

1,414

Distinct authors in sample

Gene link

SMAD2, TGFB3, TGFBR1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

aortic aneurysm syndrome due to TGF-beta receptors anomalies

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.

  1. Gene identifiedPresent

    Definitive — SMAD2, TGFB3, TGFBR1

  2. LiteraturePresent

    111,164 matched papers (76,257 in last 10 years) Source

  3. Phenotype characterisedPresent

    458 HPO annotations (e.g. Dilatation of the sinus of Valsalva; Dental malocclusion; Bruising susceptibility) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    3 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 (SMAD2, TGFB3, TGFBR1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

458

Associated phenotypes · MONDO:0018954

  • Dilatation of the sinus of Valsalva
  • Dental malocclusion
  • Bruising susceptibility
  • Atypical scarring of skin
  • Striae distensae

Showing 5 of 458 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

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?

111,164

111,164 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.

111,164 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).

76,257 in the last 10 years · low confidence

Phrase hits: 3,300 · MeSH hits: 118

Open Europe PMC search

Who's working on it?

1,414

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
    Braverman AC11 papers · 2026

    Cardiovascular Division, Department of Medicine Washington University School of Medicine St. Louis MO USA.

    Papers in Europe PMC
  2. 02
    Milewicz DM8 papers · 2025

    Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX.

    Papers in Europe PMC
  3. 03
    Oderich GS6 papers · 2025

    Department of Cardiothoracic and Vascular Surgery, McGovern Medical School at UTHealth Houston, Houston, TX.

    Papers in Europe PMC
  4. 04
    Wang Y6 papers · 2026

    Mass Spectrometry Facility, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  5. 05
    Bcharah G5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  6. 06
    Dreher L5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic Arizona, 85054, USA.

    Papers in Europe PMC
  7. 07
    Huguenard AL5 papers · 2026

    Department of Neurological Surgery Washington University School of Medicine St. Louis MO USA.

    Papers in Europe PMC
  8. 08
    Osundiji MA5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  9. 09
    Abdul Nabi H4 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  10. 10
    Bcharah H4 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

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

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Loeys-Dietz 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.

("Loeys-Dietz syndrome" OR "Aortic aneurysm syndrome due to TGF-beta receptors anomalies") OR (MESH:"Loeys-Dietz Syndrome") OR ("SMAD2" OR "SMAD2 syndrome" OR "SMAD2-related" OR "TGFB3" OR "TGFB3 syndrome" OR "TGFB3-related" OR "TGFBR1" OR "TGFBR1 syndrome" OR "TGFBR1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Loeys-Dietz Syndrome

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

"Loeys-Dietz syndrome" OR "Aortic aneurysm syndrome due to TGF-beta receptors anomalies"

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: 3 interventional · 8 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (111164) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:02:24.359Z