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ORPHA:828

Stickler syndrome

medium confidenceDisorder

Also known as: Hereditary progressive arthroophthalmopathy

Publications

33,485

98.6th percentile

Trials

2

Interventional, condition-specific

Researchers

1,154

Distinct authors in sample

Gene link

BMP4, COL9A2, COL9A3

Definitive

Readiness

5/6

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.”

5/6 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

    33,485 matched papers (20,425 in last 10 years) Source

  3. Phenotype characterisedPresent

    234 HPO annotations (e.g. Malar flattening; Hypoplasia of the maxilla; Retinal detachment) Source

  4. Animal modelPresent

    2 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

    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)

234

Associated phenotypes · MONDO:0019354

  • Malar flattening
  • Hypoplasia of the maxilla
  • Retinal detachment
  • Abnormal vitreous humor morphology
  • Depressed nasal bridge

Showing 5 of 234 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

33,485

33,485 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.

33,485 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).

20,425 in the last 10 years · medium confidence · 98.6th 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Stickler 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.

("Stickler syndrome" OR "Hereditary progressive arthroophthalmopathy") OR ("BMP4" OR "BMP4 syndrome" OR "BMP4-related" OR "COL9A2" OR "COL9A2 syndrome" OR "COL9A2-related" OR "COL9A3" OR "COL9A3 syndrome" OR "COL9A3-related")

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"

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: ok — strategies attempted: phrase; 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