The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases

Area of Science:

• Rare disease research
• Clinical data management
• Patient registries

Background:

• Tuberous Sclerosis Complex (TSC) is a rare genetic disorder.
• International disease registries are crucial for understanding rare conditions.
• The Tuberous Sclerosis registry to increase disease Awareness (TOSCA) aimed to gather clinical data on TSC patients.

Purpose of the Study:

• To identify challenges encountered during the design, execution, and publication of the TOSCA registry.
• To derive lessons learned for future rare and complex disease registries.
• To assess the impact of the TOSCA registry on TSC knowledge and awareness.

Main Methods:

• A 225-question survey was distributed to 511 individuals involved in the TOSCA registry.
• Respondents included Scientific Advisory Board members, principal investigators, and sponsor employees.
• Data from questionnaires returned within two months were analyzed.

Main Results:

• A 10.4% response rate was achieved, with high completeness for closed questions.
• Primary issues identified were limited registry duration (38%) and missing data handling (32%).
• Over 80% reported increased knowledge of TSC natural history and manifestations, and improved disease awareness.

Conclusions:

• Patient registries are vital for increasing disease awareness and generating real-world evidence in rare diseases.
• Strategies for patient retention and long-term sustainability are essential for registry success.
• Improving data quality and mitigating biases are critical for the validity of registry findings.