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ORPHA:740

Hutchinson-Gilford progeria syndrome

low confidenceDisorder

Also known as: HGPS · Progeria

Publications

8,834

Trials

13

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

LMNA

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Hutchinson-Gilford progeria syndrome is a rare, fatal, and premature aging disease, beginning in childhood and characterized by growth reduction, , a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Hutchinson-Gilford disease · Hutchinson-Gilford progeria · premature senility 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — LMNA

  2. LiteraturePresent

    8,834 matched papers (5,084 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

    13 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 (LMNA).

GenCC classification: Definitive.

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?

8,834

8,834 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.

8,834 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).

5,084 in the last 10 years · low confidence

Phrase hits: 8,834 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,083

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
    Gordon LB10 papers · 2026

    Division of Genetics, Department of Pediatrics, Hasbro Children's Hospital and Warren Alpert Medical School of Brown University, Providence, RI, United States.

    Papers in Europe PMC
  2. 02
    Wang J10 papers · 2026

    Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Mao J8 papers · 2026

    Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  4. 04
    Kleinman ME7 papers · 2026

    Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  5. 05
    Wang Y7 papers · 2026

    Institute of Genetics and Cytology, Northeast Normal University, Changchun, China.

    Papers in Europe PMC
  6. 06
    Prakash A6 papers · 2025

    Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  7. 07
    Wang G6 papers · 2026

    National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  8. 08
    Zhang Y6 papers · 2026

    Key Laboratory of Molecular Epigenetics of Ministry of Education (MOE), Northeast Normal University, Changchun, China. zhangy288@nenu.edu.cn.

    Papers in Europe PMC
  9. 09
    Hegde SM5 papers · 2025

    Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  10. 10
    Hu L5 papers · 2026

    Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

13

interventional trials for this specific condition

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

Data as of 27 July 2026

13 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase

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.

"Hutchinson-Gilford progeria syndrome" OR "Progeria" OR "Hutchinson-Gilford disease" OR "Hutchinson-Gilford progeria" OR "premature senility syndrome"

Run this search on Europe PMC

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

"Hutchinson-Gilford progeria syndrome" OR "Progeria" OR "Hutchinson-Gilford disease" OR "Hutchinson-Gilford progeria" OR "premature senility syndrome" OR "LMNA"

Recall-expansion terms: LMNA

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: 13 interventional · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HGPS

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
  • Publication count (8834) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:07:25.875Z