The landscape of rare disease drug development is being transformed through an innovative genetic testing initiative that aims to accelerate therapeutic development for inherited retinal diseases (IRDs). The Foundation Fighting Blindness has launched the My Retina Tracker program, offering free genetic testing and counseling services to US patients diagnosed with IRDs, in partnership with Blueprint Genetics and InformedDNA.
With over 300 known inherited retinal diseases affecting more than two million people globally, yet only a small fraction having access to treatment, the need for accelerated therapeutic development is critical. The program has already enrolled over 6,000 participants since its 2017 launch, with ambitious plans to expand testing to 20,000 patients in the coming years.
Comprehensive Patient Support and Data Collection
The program provides participants with genetic counseling services that include detailed medical and family history reviews, genetic variant interpretation, disease correlation, and medical management recommendations. Additionally, patients can contribute to focus groups, research studies, and natural history studies while gaining potential access to clinical trials.
"From talking to retina specialists, we know that barriers to genetic testing remain a challenge for patients," says Daniel de Boer, CEO of ProQR Therapeutics. The program addresses this by creating a comprehensive database that tracks both genetic information and patients' subjective experiences with their condition.
Industry Partnership Accelerates Drug Development
ProQR Therapeutics has emerged as the first industry partner for the My Retina Tracker program, gaining access to de-identified patient data and expert physician networks. This collaboration is particularly significant for the company's development of RNA-based therapies for specific genetic mutations causing conditions such as Leber's congenital amaurosis 10, Usher syndrome type 2, and autosomal dominant retinitis pigmentosa.
Advanced Therapeutic Approaches
ProQR's RNA therapies represent a novel approach to treating IRDs, targeting RNA rather than DNA to potentially reduce permanent side effect risks. "For inherited retinal diseases, RNA therapies can be administered through intravitreal injections, which is a far less invasive procedure than the retinal surgery required for gene therapies," explains de Boer.
Overcoming Clinical Trial Challenges
The initiative addresses several key challenges in rare disease drug development, including:
- Patient identification for clinical trials
- Understanding disease natural history
- Determining appropriate trial endpoints
- Gathering safety and efficacy data from small patient populations
"Without knowing the exact mutations and the prevalence in which they occur, it can be difficult to design therapies and execute clinical trials for these rare and ultra-rare diseases," notes de Boer. The program's growing database helps overcome these obstacles by providing crucial genotype/phenotype information.
Clinical Impact and Future Implications
The database's impact extends beyond research, offering immediate benefits for patient care. Physicians can use the genetic information to provide more accurate diagnoses, better understand disease prognosis, and connect patients with existing therapies or relevant clinical trials.
As the program continues to expand, it represents a promising model for addressing the challenges of rare disease drug development through collaborative, patient-centered approaches to data collection and analysis.
