Unleashing the power of computational tools in rare disease

In the vast landscape of pharmaceutical innovation, few therapy areas present challenges and opportunities as compelling as those faced in rare disease. These conditions, affecting small patient populations and characterized by diverse clinical manifestations, demand innovative approaches and cutting-edge technologies to drive research and commercialization forward.

In this era of real-world data (RWD) and precision medicine, the quest to unlock the mysteries of rare diseases and tailor treatments to individual patients has never been more promising. Data from a rising tide of sources can empower pharma executive decision making from R&D, clinical studies, health outcomes, drug safety, and market access.

With the wealth of data generated from diverse sources comes the challenge of extracting meaningful insights from the pool of available databases and translating them into actionable strategies. Where the amount of unstructured data is enough to drown you, think of machine learning as your personal flotation device that, when used correctly, can pull you safely to shore.

This begs the question: What computational and analytical tools are available for mining and interpreting rare disease data, and how can companies bridge the gap between data generation and actionable insights?

This subject is discussed in a forthcoming white paper from Clarivate. Hemanth Nair, Director of Real World Evidence Engagement and Innovation at Clarivate, discusses how to apply machine learning to RWD to make foundational decisions on the course of clinical trials, site recruitment and patient identification, while giving real life examples from a recent project with a rare disease client.

From data deluge to actionable insights

Computational tools, databases and platforms are increasingly being used for the enhancement of rare disease therapies, including data mining, data integration, data standardization and quality assurance, as well as visualization and interpretation. With this in mind, what is available, and why should you consider it as part of your rare disease product development?

  • Data mining

Machine learning algorithms, including supervised and unsupervised learning methods, can uncover patterns, correlations, and associations within complex datasets. AI-powered approaches such as deep learning, natural language processing (NLP), and neural networks enable advanced data analysis and predictive modeling, offering insights into disease mechanisms, patient outcomes, and treatment responses.

Bioinformatics tools facilitate the analysis of genomic data, including DNA sequencing, gene expression profiling, and variant annotation.

Genomics databases and resources ̶ such as NCBI’s GenBank, the DNA DataBank of Japan, and the European Nucleotide Archive ̶ provide access to annotated genomes, genetic variants, and functional annotations for rare disease research.

  • Data integration

Data integration platforms enable the aggregation and harmonization of heterogeneous datasets from disparate sources, including electronic health records (EHRs), patient registries, and omics data.

These platforms facilitate comprehensive data analysis and enable researchers to correlate clinical, genetic, and molecular information, offering a holistic view of disease biology and patient phenotypes.

There are several platforms and solutions available in the market catering to data integration needs in the pharmaceutical industry, each with its own unique features and capabilities. It’s essential to evaluate these platforms based on specific requirements and use cases to determine the best fit for a particular organization’s needs.

  • Data standardization and quality assurance

Establishing standardized protocols for data collection, curation, and validation ensures data integrity and interoperability across different platforms and institutions. The Clinical Data Interchange Standards Consortium (CDISC), for example, develops and promotes global, platform-independent data standards that enable information system interoperability to improve medical research and related areas of healthcare.

CDISC standards cover various aspects of clinical research data, including study design, data collection, data representation, and data exchange. It has standards like SDTM (Study Data Tabulation Model) for organizing and standardizing clinical trial data, ADaM (Analysis Data Model) for analysis datasets, and CDASH (Clinical Data Acquisition Standards Harmonization) for standardizing case report forms (CRFs) and data collection.

Implementing robust quality assurance processes mitigates the risk of errors and inconsistencies, enhancing the reliability and trustworthiness of data-driven insights. Tools are available that have been specifically designed for regulated industries and helps companies to maintain product quality, adhere to regulatory requirements, and improve overall operational efficiency through standardized and automated quality processes.

  • Data visualization and interpretation tools

Data visualization tools such as interactive dashboards and heatmaps facilitate the exploration and interpretation of complex datasets, enabling stakeholders to identify trends, outliers, and actionable insights. Advanced analytics platforms offer customizable analytics pipelines and visualization options, empowering users to extract meaningful insights from raw data and communicate findings effectively.

Tools such as RapidMiner, SAS Visual Analytics, Tableau, and TIBCO Spotfire are all popular among the biopharmaceutical and medical device industries to visualize, analyze, and interpret data from various sources.

For more on how Clarivate uses AI and machine learning to help companies develop innovative medicines, devices and diagnostics, generate knowledge and safeguard intellectual property, please visit us here.