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ORPHA:828

Stickler syndrome

medium confidenceDisorder

Also known as: Hereditary progressive arthroophthalmopathy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,817

95.1th percentile

Trials

2

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

BMP4, COL9A2, COL9A3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous ; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

hereditary progressive arthroophthalmopathy

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 — BMP4, COL9A2, COL9A3, LOXL3, LRP2

  2. LiteraturePresent

    2,817 matched papers (1,706 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

    2 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 (BMP4, COL9A2, COL9A3…).

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?

2,817

2,817 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,817 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).

1,706 in the last 10 years · medium confidence · 95.1th percentile (publications denominator)

Phrase hits: 2,817 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,154

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
    Martin H9 papers · 2026

    NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Addenbrooke's Hospital, Cambridge, UK.

    Papers in Europe PMC
  2. 02
    Snead MP7 papers · 2026

    Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  3. 03
    Kuhn F6 papers · 2026

    Helen Keller Foundation for Research and Education, Birmingham, AL, USA.

    Papers in Europe PMC
  4. 04
    Morris RE6 papers · 2026

    Retina Specialists of Alabama, LLC, Birmingham, AL, USA.

    Papers in Europe PMC
  5. 05
    Richards AJ6 papers · 2026

    Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  6. 06
    Alexander P5 papers · 2025

    NHS England Highly Specialised Stickler Syndrome Diagnostic Service, Addenbrooke's Hospital, Cambridge, UK.

    Papers in Europe PMC
  7. 07
    Berrocal AM4 papers · 2025

    Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, FL, USA.

    Papers in Europe PMC
  8. 08
    Bohnsack BL4 papers · 2026

    Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.

    Papers in Europe PMC
  9. 09
    Li H4 papers · 2025

    The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Liu C4 papers · 2026

    Genetics Center of Obstetrics and Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai 200011, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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.

"Stickler syndrome" OR "Hereditary progressive arthroophthalmopathy"

Run this search on Europe PMC

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

"Stickler syndrome" OR "Hereditary progressive arthroophthalmopathy" OR "BMP4" OR "COL9A2" OR "COL9A3" OR "LOXL3" OR "LRP2"

Recall-expansion terms: BMP4, COL9A2, COL9A3, LOXL3, LRP2

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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:34:34.544Z