ORPHA:231178
Usher syndrome type 2
Also known as: USH2
Publications
312
80.7th percentile
Trials
6
Interventional, condition-specific
Researchers
1,373
Distinct authors in sample
Gene link
ADGRV1, USH2A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare ciliopathy characterized by moderate-to-severe deafness, retinitis pigmentosa developing in the first or second decade, and normal vestibular function. bilateral sensorineural hearing loss is mild to moderate in the low frequencies and severe to profound in the higher frequencies. Additional manifestations include night blindness, constricted visual field (tunnel vision), and later on decreased visual acuity sometimes ending with bare light perception.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016484
- UMLS:C0339534
- NCIT:C126328
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.
- Gene identifiedPresent
Definitive — ADGRV1, USH2A
- LiteraturePresent
312 matched papers (228 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
6 matched on ClinicalTrials.gov
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 (ADGRV1, USH2A).
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?
312
312 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
312 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).
228 in the last 10 years · medium confidence · 80.7th percentile (publications denominator)
Phrase hits: 312 · MeSH hits: 0
Who's working on it?
1,373
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.
- 01Duncan JL19 papers · 2025
Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States.
Papers in Europe PMC - 02Michaelides M16 papers · 2025
Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.
Papers in Europe PMC - 03Audo I13 papers · 2025
Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France.
Papers in Europe PMC - 04
- 05
- 06
- 07Stingl K11 papers · 2025
University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 08
- 09
- 10
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; none in our sample are currently recruiting. 9 trials are registered for Usher syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).
medium confidence · 89th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: Usher syndrome
9
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06592131·NOT YET RECRUITING·BF844 Safety and Pharmacokinetic Study in Healthy Volunteers
Conditions: Usher Syndrome Type 3·Matched via name phrase
- NCT07710196·NOT YET RECRUITING·A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Conditions: Retinitis Pigmentosa (RP) · Usher Syndrome·Matched via name phrase
- NCT06789445·RECRUITING·A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Conditions: Primary Photoreceptor Disease · Retinitis Pigmentosa (RP) · Usher Syndrome · Inherited Retinal Disease (IRD)·Matched via name phrase
- NCT07290530·NOT YET RECRUITING·24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Conditions: Retinitis Pigmentosa (RP) · Usher Syndrome·Matched via name phrase
- NCT06591793·RECRUITING·Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa
Conditions: Usher Syndrome, Type 1B·Matched via name phrase
Observational and natural-history studies
3 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
- NCT06545253·NOT YET RECRUITING·A New Diagnostic Paradigm for Retinitis Pigmentosa Secondary to USH2A Pathogenic Variants
Conditions: USH2A Variant Retinitis Pigmentosa·Matched via recall expansion
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 2026-07-26This 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.
"Usher syndrome type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Usher syndrome type 2" OR "ADGRV1" OR "USH2A"
Recall-expansion terms: ADGRV1, USH2A
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: 6 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Usher syndrome"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: USH2
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
Ingested 2026-07-27T10:14:57.060Z