Abstract
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases.Methods: A questionnaire was designed to identify the strengths, weaknesses, and issues that arose at any stage of development and implementation of the TOSCA registry. The questionnaire contained 225 questions distributed in 7 sections (identification of issues during registry planning, during the operation of the registry, during data analysis, during the publication of the results, other issues, assessment of lessons learnt, and additional comments), and was sent by e-mail to 511 people involved in the registry, including 28 members of the Scientific Advisory Board (SAB), 162 principal investigators (PIs), and 321 employees of the sponsor belonging to the medical department or that were clinical research associate (CRA). Questionnaires received within the 2 months from the initial mailing were included in the analysis.Results: A total of 53 (10.4%) questionnaires were received (64.3% for SAB members, 12.3% for PIs and 4.7% for employees of the sponsor), and the overall completeness rate for closed questions was 87.6%. The most common issues identified were the limited duration of the registry (38%) and issues related to handling of missing data (32%). In addition, 25% of the respondents commented that biases might have compromised the validity of the results. More than 80% of the respondents reported that the registry improved the knowledge on the natural history and manifestations of TSC, increased disease awareness and helped to identify relevant information for clinical research in TSC.Conclusions: This analysis shows the importance of registries as a powerful tool to increase disease awareness, to produce real-world evidence, and to generate questions for future research. However, there is a need to implement strategies to ensure patient retention and long-term sustainability of patient registries, to improve data quality, and to reduce biases.
Highlights
The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC)
A questionnaire was designed to identify issues that might have arisen at any stage of the TOSCA registry project from its inception to the publication of the results, and to identify its strengths and weakness, and opportunities and threats that could be of interest for the development of future registries in rare diseases
The questionnaire contained 225 questions split into seven sections (Supplementary Material); the first five sections covered a range of aspects related to issues during the registry, and the last two were devoted to assess lessons learnt from the TOSCA registry and to gather additional comments (Table 1)
Summary
The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases. Patient registries may help to understand the natural history of the disease, to estimate the human and economic burden of the disease, to monitor clinical practice patterns, to identify patients’ subgroups that might be included in future clinical trials and to generate new research questions (2). In spite of its usefulness, patient registries do have several limitations arising from biases, lack of standardization in data collection, accuracy, and comprehensiveness of the data, fragmentation of clinical data, and ethical concerns (2). In addition to academic initiatives on registries, there are different initiatives worldwide for patients’ group registries where the accuracy of the data can be questioned
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