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ORPHA:886

Usher syndrome

low confidenceDisorder

Also known as: Retinitis pigmentosa-deafness syndrome · Retinitis pigmentosa-hearing loss syndrome · USH

Publications

5,396

Trials

15

Interventional, condition-specific

Researchers

1,423

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare ciliopathy characterized by or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a vision loss and, in some cases, vestibular dysfunction.

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 (2)

Usher's syndrome · ush

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,396 matched papers (2,997 in last 10 years) Source

  3. Phenotype characterisedPresent

    150 HPO annotations (e.g. Progressive visual loss; Blindness; Nyctalopia) Source

  4. Animal modelPresent

    62 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. mixture of two adeno-associated viral vectors serotype 8 containing the 5'-half sequence of human MYO7A gene and the 3'-half sequence of human MYO7A gene Source

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (5 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

150

Associated phenotypes · MONDO:0019501

  • Progressive visual loss
  • Blindness
  • Nyctalopia
  • Sensorineural hearing impairment
  • Visual impairment

Showing 5 of 150 — open Monarch for the full list.

Animal models (Monarch / Alliance)

62

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA mixture of two adeno-associated viral vectors serotype 8 containing the 5'-half sequence of human MYO7A gene and the 3'-half sequence of human MYO7A geneTreatment of Usher syndrome · 04/07/2014 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0019501

CTD chemicals (MyDisease.info)

1 associated chemical · 3 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 5-O-(5-amino-5-deoxyribofuranosyl)-1N-(4-amino-2-hydroxybutanoyl)paromamine · therapeutic

Pathways: Signal Transduction; Visual phototransduction; The canonical retinoid cycle in rods (twilight vision)

MyDisease.info · MONDO:0019501

Literature

Is anyone studying this?

5,396

5,396 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.

5,396 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).

2,997 in the last 10 years · low confidence

Phrase hits: 5,396 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,423

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
    Stingl K7 papers · 2026

    Department for Ophthalmology, University Eye Clinic, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.

    Papers in Europe PMC
  2. 02
    van Wijk E7 papers · 2026

    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  3. 03
    de Vrieze E6 papers · 2026

    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  4. 04
    Kohl S5 papers · 2026

    Department for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University of Tübingen, 72076, Tübingen, Germany.

    Papers in Europe PMC
  5. 05
    Nagel-Wolfrum K5 papers · 2026

    Institute of Molecular Physiology, Molecular Cell Biology, Johannes Gutenberg University Mainz, Mainz, Germany.

    Papers in Europe PMC
  6. 06
    Wolfrum U5 papers · 2026

    Institute of Molecular Physiology, Molecular Cell Biology, Johannes Gutenberg University Mainz, Mainz, Germany. wolfrum@uni-mainz.de.

    Papers in Europe PMC
  7. 07
    Barakat A4 papers · 2026

    Genomics and Human Genetics Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.

    Papers in Europe PMC
  8. 08
    Charoute H4 papers · 2026

    Genomic Sequencing Laboratory, Institut Pasteur du Maroc, Casablanca 20360, Morocco.

    Papers in Europe PMC
  9. 09
    Cremers FPM4 papers · 2025

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

    Papers in Europe PMC
  10. 10
    Kremer H4 papers · 2026

    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 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

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Usher 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.

"Usher syndrome" OR "Retinitis pigmentosa-deafness syndrome" OR "Retinitis pigmentosa-hearing loss syndrome" OR "Usher's syndrome"

Run this search on Europe PMC

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

"Usher syndrome" OR "Retinitis pigmentosa-deafness syndrome" OR "Retinitis pigmentosa-hearing loss syndrome" OR "Usher's 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: 15 interventional · 14 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

Synonyms dropped by stoplist: USH

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:45:24.812Z