Rate of Progression of PCDH15-Related Retinal Degeneration in Usher
Conditions: Retinal Degeneration, Retinitis Pigmentosa, Eye Diseases, Hereditary
Sponsor: Jaeb Center for Health Research

Jaeb Center for Health Research
15310 Amberly Drive, Suite 350
Tampa, FL 33647
Tel: (813) 975-8690
Fax: (813) 975-8761
aayala@jaeb.org
October 12, 2022
RE: Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)
Dear Investigator,
This Protocol Administrative Change Letter (PACL) is to notify you of the following administrative
changes and clarifications to the RUSH2A protocol; version 1.0 December 21, 2020. The edit 
described below is to clarify an inconsistency in the text of the protocol and provide an administrative 
change that does not impact the safety of subjects, the scope of the trial, or the scientific quality of 
the study. Therefore, this does not qualify as an amendment.
This PACL makes the following changes:
Page 21, Section 2.3.1.1 Participant Criteria
Must meet one of the Genetic Screening 
Criteria, defined below:
Screening Group A:  At least 2 disease-causing variants in the PCDH15 gene which are 
homozygous or heterozygous in trans, based on a report from a clinically certified lab.
Screening Group B:  Only 1 disease-causing variant in the PCDH15 gene, based on a report 
from a clinically certified lab.
Screening Group C:  At least 2 disease-causing variants in the PCDH15 gene which are 
unknown phase, based on a report from a clinically certified lab
To clarify, the intention of the protocol criteria is to confirm that the mutations on the PCDH15 gene 
are the cause of the retinal degeneration. Currently the protocol requires segregation analysis to 
provide enough evidence. However, for participants who are syndromic, diagnosed with hearing loss,
coupled with having two (2) mutations of unknown phase, this is sufficient evidence to demonstrate
that the mutations on PCDH15 are the cause. Therefore, the following note will be added to the next 
. 
If this protocol requires substantial changes in the future, the changes described in this letter will be 
incorporated into the amended protocol. Please inform your institutional review board and/or 
independent ethics committee of these changes, as required.
If you have any questions, please feel free to contact me via email at aayala@jaeb.org. 
Sincerely,
Allison Ayala, MS
RUSH1F Project Director
Allison Ayala
Digitally signed by Allison Ayala
DN: cn=Allison Ayala ou=North Wing
Reason: I am approving this document
Location:
Date: 2022-10-14 10:15-04:00