The Mustafi Lab is currently enrolling patients for the following clinical trials:
1. Genetic Investigation of Retinal Degenerative Disorders: CURRENTLY ENROLLING
We are interested to understand the genetic basis of retinal degenerative diseases. We are applying our novel sequencing approach to provide full molecular diagnostics for patients with retinal disease, which is accomplished by using cells taken from blood or saliva. These cells contain DNA, which is the genetic make up of each individual, that we can then specially prepare to provide research level diagnostics that current clinical systems may not be able to.
For more information about the study and potential eligibility and enrollment please contact:
Dr. Debarshi Mustafi (Principal Investigator): (Area code two zero six) 616-9305; debarshi [at] uw [dot] edu
Jenna Huey (Study Coordinator): (Area code two zero six) 685-6305; jlhuey [at] uw [dot] edu
2. Rapid Parent-of-origin Diagnosis of Retinoblastoma: CURRENTLY ENROLLING
Diagnosis of retinoblastoma can be time consuming and current commercial short-read sequencing methodologies cannot provide phase information to indicate chromosomal heritability or parent-of-origin, which is being recognized as a novel prognostic indicator of cancer burden in the eye.
We are enrolling patients and families for long-read sequencing to provide a rapid analysis of chromosomal DNA to identify pathogenic variants in the retinoblastoma gene, RB1, and provide detailed chromosomal information as well as parent-of-origin inheritance to explain disease heritability and potential prognostic implications.
For more information visit: https://clinicaltrials.gov/study/NCT06725173
For more information about the study and potential eligibility and enrollment please contact:
Dr. Debarshi Mustafi (Principal Investigator): (Area code two zero six) 616-9305; debarshi [at] uw [dot] edu
Jenna Huey (Study Coordinator): (Area code two zero six) 685-6305; jlhuey [at] uw [dot] edu
3. Patient-derived Retinal Organoid Models for Mechanistic and Therapeutic Discovery: CURRENTLY ENROLLING
Genetic diagnosis of retinal diseases can be hindered by variants of uncertain significance (VUS) that require additional testing to understand their molecular role in disease. To address this the Mustafi and Cherry labs are enrolling individuals with inherited retinal disorders to better understand the mechanism of disease of certain genetic variants. This is accomplished by obtaining blood from participants and isolating stem cells and differentiating them into retinal organoids.
We also will carry out gene editing as an early pre-clinical model to show targeted correction of genetic variants can lead to resolution of disease features in the retinal organoids.
For more information about the study and potential eligibility and enrollment please contact:
Dr. Debarshi Mustafi (Principal Investigator): (Area code two zero six) 616-9305; debarshi [at] uw [dot] edu
Dr. Timothy Cherry (Principal Investigator)
4. Disulfiram for Treatment of Retinal Degeneration: Not yet recruiting (anticipated recruitment in Spring 2025)
We are performing a Phase I/II clinical trial investigating if retinaldehyde dehydrogenase inhibitor, disulfiram, can improve. retinal sensitivity in eyes affected by inherited retinal degeneration.
This will be performed as a cross-over randomized control trial.
Subjects with inherited retinal degeneration (male and female, aged 18-65) affecting visual function in at least one eye will be enrolled.
For more information please visit: https://clinicaltrials.gov/ct2/show/NCT05626920
For more information about the study and potential eligibility and enrollment please contact:
Dr. Debarshi Mustafi (Principal Investigator): (Area code two zero six) 616-9305; debarshi [at] uw [dot] edu
Simona Vuletic (Study Coordinator): (Area code two zero six) 520-9728
5. Non-invasive functional imaging of the retina: CURRENTLY ENROLLING
The purpose of this research is to study how the human eye functions normally and how diseases that affect the eye lead to its dysfunction. A special custom-made high-resolution camera will be used to take microscopic images of the retina.
The goal is to evaluate the role different retinal cells play in seeing shapes and colors and how these cells are affected by retinal diseases.
Your participation may provide ophthalmologists avenues to develop and test new techniques for visualizing the retina, thereby helping in the diagnosis and treatment of eye diseases.
For more information about the study and potential eligibility and enrollment please contact:
Benjamin Wendel (Study Coordinator): wendel [at] uw [dot] edu
Other clinical trials targeted to IRD and retinoblastoma patients are currently in the pipeline at UW/SCH. Please check back periodically for other trials that you may be eligible for!
For a comprehensive list of relevant clinical trials underway for inherited retinal diseases visit: https://www.clinicaltrials.gov/