ORPHA:231169
Usher syndrome type 1
Also known as: USH1
Publications
371
79.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,288
Distinct authors in sample
Gene link
CDH23, CIB2, MYO7A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare ciliopathy characterized by profound deafness, retinitis pigmentosa and vestibular dysfunction. Retinitis pigmentosa results in visual loss and generally manifests as night blindness, progressively constricted visual fields, and impaired visual acuity. Vestibular dysfunction a defining feature of this form, manifests as delayed motor development with affected infants taking longer to sit independently and to walk. Later on, vestibular dysfunction results in difficulty with activities requiring balance.
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:0010168
- UMLS:C1568247
- NCIT:C126327
Additional Mondo synonyms (2)
Usher syndrome, type 1 · retinitis pigmentosa and congenital deafness
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CDH23, CIB2, MYO7A, PCDH15, USH1C…
- LiteraturePresent
371 matched papers (205 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 trialPartial
None under the specific name; 15 for broader category Usher syndrome
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 (CDH23, CIB2, MYO7A…).
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?
371
371 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.
371 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).
205 in the last 10 years · medium confidence · 79.1th percentile (publications denominator)
Phrase hits: 371 · MeSH hits: 0
Who's working on it?
1,288
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Petit C14 papers · 2025
Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Papers in Europe PMC - 02Stingl K7 papers · 2026
University Eye Hospital, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany tobias.haack@med.uni-tuebingen.de Katarina.Stingl@med.uni-tuebingen.de.
Papers in Europe PMC - 03
- 04Ahmed ZM5 papers · 2026
Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Papers in Europe PMC - 05Kohl S5 papers · 2026
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 06Li S5 papers · 2022
Department of Neuroscience, University of Virginia, Charlottesville, VA, USA.
Papers in Europe PMC - 07Nishio SY5 papers · 2026
Department of Hearing Implant Sciences, Shinshu University School of Medicine, 390-8621, Matsumoto, Japan.
Papers in Europe PMC - 08Riazuddin S5 papers · 2026
Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad 44000, Pakistan.
Papers in Europe PMC - 09Bolz HJ4 papers · 2024
Bioscientia Human Genetics, Institute for Medical Diagnostics GmbH, 55218 Ingelheim, Germany.
Papers in Europe PMC - 10El-Amraoui A4 papers · 2018
Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 15 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
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
15 interventional trials matched Usher syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Usher syndrome
15
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
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.
Recruiting or not-yet-recruiting
- NCT07278843·RECRUITING·Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Conditions: Usher Syndrome·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 1" OR "Usher syndrome, type 1" OR "retinitis pigmentosa and congenital deafness"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Usher syndrome type 1" OR "Usher syndrome, type 1" OR "retinitis pigmentosa and congenital deafness" OR "CDH23" OR "CIB2" OR "MYO7A" OR "PCDH15" OR "USH1C" OR "USH1G"
Recall-expansion terms: CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G
Study-type breakdown: 0 interventional · 2 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: USH1
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 2026-07-27T10:14:45.921Z