Usher 1F Collaborative
Cycle 1
Usher Syndrome is the leading cause of inherited deaf-blindness, and type 1 is the most severe. Children with Usher 1 are born profoundly deaf with poor balance and progressively lose their sight.
Last updated 04/30/2026
Clinical
Disease Class
Genetic diseases
Multi-system genetic syndromes
Ophthalmic diseases
Otorhinolaryngological diseases
Body Systems
Nervous / Sensory
Organs
Ears
Eyes
Known Genetic Link
Yes, one or more genes directly cause the condition
Causative Genes
PCDH15 (USH1F)
Contributory Genes
None specified / unknown
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Other
Age of Onset
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Life Expectancy
Elderly (age 65+)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
101-1000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Ashkenazi Jews have a Carrier Freq: 1/115; Prevalence: 1/52,981
Symptoms / Phenotypes
balance problems
hearing loss / hearing impairment
vision problems
Biomarkers
Diagnostic
· profound deafness at birth, low muscle tone -> late gross motor milestone
Monitoring
· progression of vision loss - loss of night vision followed by narrowing peripheral vision
Prognostic
· Auditory brainstem response hearing test, electroretinogram, behavioral hearing test, visual field test
Existing Therapies
Off-Label Drug Use
Therapies in Development
Antisense oligonucleotide (ASO) therapy
Cellular therapies (stem cell transplants, CAR-T therapies, etc.)
· Stem cell therapies in development at labs we are not currently funding, 1 in particular
Dietary & metabolic therapies (medical food, dietary restriction, supplements, etc.)
· Lutein, NAC (over-the-counter)
Gene therapy
· 2 in development, mini-gene in preclinical testing
Repurposed drug
· N-acetyl-choline (NAC) in clinical trial, 4 drugs from Unravel drug screen to begin testing in zebrafish models soon
Small molecule therapy (novel small molecule drugs)
· 1 - hexafluoro identified. Seeking path to patients.
Therapeutic Development Stages
In preclinical development
In research/exploratory phase
Therapeutic Development Role
None
Organizational & Research
Cell Lines
iPSCs
Cell Lines, Institution
Centre for Eye Research Australia (CERA)
Institute of Molecular and Clinical Ophthalmology
University of Iowa
Cell Lines, Involvement
Funded
Cell Lines, share
Unsure
Disease Model
Mouse
Organoids
Zebrafish
Disease Model, Institution
Harvard Medical School
Oregon Institute of Neuroscience
University of Maryland School of Medicine
Disease Model, Involvement
Funded
Disease Model, share
Some of our disease models are freely available
Organizational Challenges
A company, Spark Therapeutics, had our mini-gene for 2 years and conducted preclinical testing on NHPs. Then Roche bought them out and ended all ocular gene therapies. We are having difficulty finding a new company to take it on.
Clinical Trial Role
Data analysis
Data sharing
Funding
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Genetic data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
RARE-X
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Imaging data
Platform, Natural History Study
Other
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
We have taken formal steps to schedule a meeting
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Diagnostic Guidelines
Yes, we have guidance available on our website
Clinical/Treatment Guidelines
No
Science Advisory Board Policies
No policies
Research Network Policies
Has CRN but no policies
Patient Priority Survey
No
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Chapters
North America
International Partners
None
Other International Research Initiatives
None