Clinical Trials

The Mustafi Lab is currently enrolling patients for the following clinical trials:

1. Investigation of Retinal Degenerative Disorders: USH2A-associated Usher Syndrome and Retinitis Pigmentosa Patients: CURRENTLY ENROLLING

• • We want to see if blood cells from people can be used to grow retinal cells in a laboratory and the genomic makeup of these cells. These cells contain DNA, genetic material. It is important to have control (or “normal”) patients who do not have any retinal diseases with which to compare the findings. As such, we would like to enroll participants with no retinal disease as well.

  • This is not a treatment study. We hope that information gained from this study will help answer the genetic causes of USH2A related retinal degeneration and other genetic causes of retinal degeneration which can lead to design of targeted therapy for this patient population.

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

2. Disulfiram for Treatment of Retinal Degeneration: Not yet recruiting (anticipated recruitment in Spring 2023)

• • 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

3. 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

4. Rapid diagnosis of Retinoblastoma: CURRENTLY ENROLLING

• • Diagnosis of retinoblastoma can be time consuming and current commercial short-read sequencing methodologies cannot provide phase information to indicated chromosomal heritability.

  • 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 to explain disease heritability.

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

• Other clinical trials targeted to IRD 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/