Developing therapeutics for rare diseases presents unique challenges. Ensuring that enrolled patients will respond to the drug is critical for the success of clinical trials, and expanding the market for an approved therapeutic requires accurately diagnosing as many patients as possible. Genetic testing plays a pivotal role in the diagnosis of rare diseases, where a patient’s variant must be classified as pathogenic for them to be eligible for treatment or trial enrollment. Sources of evidence like population data are often lacking for rare diseases, complicating variant classification and restricting the market for new and existing therapeutics.
The RareScan Platform
Constantiam Biosciences’s RareScan™ platform provides evidence to classify VUS and define patient populations for rare disease therapeutics through innovative application of massively-multiplexed cellular assays and Bayesian generative modeling. RareScan leverages Deep Mutational Scanning (DMS) to assess thousands of variants of a disease-causing gene for their impact on protein function and the corrective effect of a therapeutic agent, enabling both classification of VUS and accurate predictions of responsiveness to a new or existing drug. This comprehensive approach ensures more variants can be accurately classified, facilitating better diagnoses and expanding the pool of eligible patients for clinical trials and therapeutic interventions.
Expanded Patient Population
RareScan significantly improves the ability to classify variants, accelerating diagnoses and expanding the reach of new and existing drugs.
Variant-Specific Assessment of Drug Efficacy
RareScan proactively measures the effect of a therapeutic agent on thousands of variants in a single experiment, enabling accurate predictions of drug responsiveness before reaching the clinic. These data can be used to refine the patient population for genes in which different variants have distinct effects on gene function.
Pre-Approval Risk Mitigation
RareScan enables the enrollment of patients who are likely to respond to a therapeutic agent, thereby increasing success rate and mitigating unnecessary risks associated with clinical trials.
Post-Approval Market Expansion
Accurate classification of patient variants through RareScan helps identify all potential patients who could benefit from a drug, expanding market reach.
Efficient Data Collection
RareScan eliminates the need for additional overhead or hiring. We collaborate with your team to leverage their disease-specific expertise, ensuring efficient and effective data collection.
