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ORPHA:740

Hutchinson-Gilford progeria syndrome

low confidenceDisorder

Also known as: HGPS · Progeria

Publications

22,040

Trials

8

Interventional, condition-specific

Researchers

1,083

Distinct authors in sample

Gene link

LMNA

Definitive

Readiness

6/6

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — LMNA

  2. LiteraturePresent

    22,040 matched papers (14,602 in last 10 years) Source

  3. Phenotype characterisedPresent

    106 HPO annotations (e.g. Micrognathia; Prominent superficial blood vessels; Pubertal developmental failure in females) Source

  4. Animal modelPresent

    23 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA · 3 EMA designations (none yet with FDA orphan-indication approval) — e.g. Lonafarnib Source

  6. Interventional trialPresent

    8 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 (LMNA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

106

Associated phenotypes · MONDO:0008310

  • Micrognathia
  • Prominent superficial blood vessels
  • Pubertal developmental failure in females
  • Insulin resistance
  • Limitation of joint mobility

Showing 5 of 106 — open Monarch for the full list.

Animal models (Monarch / Alliance)

23

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)

4

Designations · no FDA orphan-indication approval yet

  • EMA Lonafarnib (Zokinvy)Treatment of Hutchinson-Gilford progeria · 14/12/2018 · PositiveEMA designation
  • EMA (7S)-8,8-dimethyl-7-{[(2E)-3-phenyl-2-propen-1-yl]oxy}-7,8-dihydro-2H,6H-pyrano[3,2-g]chromen-2-oneTreatment of Hutchinson-Gilford progeria syndrome · 10/08/2022 · PositiveEMA designation
  • EMA pravastatin;zoledronic acidTreatment of Hutchinson-Gilford progeria · 09/06/2010 · PositiveEMA designation
  • FDA lonafarnib (ZOKINVY)Hutchinson-Gilford Progeria Syndrome · 2011-04-18

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0008310

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

22,040

22,040 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.

22,040 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).

14,602 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?

8

interventional trials for this specific condition

8 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

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

low confidence · 91.5th 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

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Hutchinson-Gilford progeria 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.

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

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"

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 · 1 observational · 1 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: 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 (22040) 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