LinkDoc Breaks Through the 'Double Dilemma' in Rare Diseases with Real-World Data Solutions

Patients with rare diseases in China often face a “dilemma”: difficulties in diagnosis and treatment, and challenges in accessing medications.

On February 28, the “Report on the Accessibility of Rare Disease Medicines in China (2019),” released at the Beijing press conference for International Rare Disease Day, pointed out that patients with rare diseases in China generally lack access to therapeutic drugs, or fail to receive timely and adequate treatment, which often results in irreversible physical and psychological harm.

Can emerging technologies such as the internet, artificial intelligence, and big data bring about disruptive changes in rare disease drug development and disease management? At the conference, Zhang Tianze, CEO of LinkDoc Technology, shared a case study on the application of Real-World Study (RWS) solutions in familial hypercholesterolemia under the theme “Aggregating Data, Patients, and Expertise,” which greatly impressed the attendees.

Rare diseases, as the name suggests, refer to conditions with extremely low prevalence. The World Health Organization defines rare diseases as those affecting less than 0.65‰–1‰ of the total population.

Currently, there are approximately 7,000 to 8,000 rare diseases worldwide. However, given China’s large population base, rare diseases are not actually “rare” in terms of the number of affected individuals. According to incomplete statistics, there are currently more than 20 million patients with rare diseases in China, many of whom face significant challenges in accessing diagnosis, treatment, and medications.

Taking familial hypercholesterolemia (FH) as an example, atherosclerosis and elevated cholesterol levels are very common in clinical cardiology practice. However, a subset of these cases may not represent ordinary hypercholesterolemia; rather, they may be misdiagnosed or undiagnosed FH. According to publicly available data, the prevalence of FH in China is approximately 0.31%, corresponding to an estimated 6 million patients. Yet, the diagnosis rate remains below 1%. Clinical treatment options are severely inadequate, patient management and follow-up are lacking, and there is no single-disease data platform to support clinical research.

Centered on patient treatment benefits and driven by the needs of pharmaceutical companies for patient screening and experts for data governance, LinkDoc Technology has constructed a large familial hypercholesterolemia (FH) cohort to comprehensively accumulate FH patient data and establish an FH big data platform. The platform continuously tracks each patient enrolled in the FH big data platform until individual cases are transformed into usable datasets. Through disease-model-based structuring and de-identification, these datasets are converted into clinical research data ready for physician use, thereby stimulating the research enthusiasm of clinical experts.

Compared with traditional models, the ZeroCrunch FH-RD data platform features numerous innovative highlights. Going beyond project planning, it enables data accumulation and replicability, thereby supporting pharmaceutical companies’ long-term business planning in therapeutic areas. While collecting prospective data, it also supplements retrospective data. Its design based on the Common Disease Model (CDM) ensures more comprehensive data points, truly establishing it as China’s first large-scale FH cohort.

Leveraging its proprietary third-generation data structuring technology, Zero Crisp Technology facilitated refined data processing for the FH large-scale cohort. By including all patients who met the screening criteria, the overall follow-up success rate reached 85%, enabling simultaneous evidence accumulation and patient management to optimize future clinical diagnosis and treatment pathways. “By aggregating both data and patients, we have built a reserve of eligible participants for many clinical trials. This technical preparedness ensures that when new drugs enter the Chinese market, they can be launched more rapidly,” explained Zhang Tianze.

Since the project entered its preparatory phase in September 2017, it has progressed rapidly, with the first data platform deployed in a hospital by December of the same year. In June 2018, Phase II of the project expanded to other data centers. To date, more than 600 eligible patients have been included in the structured case database, and over 150 patients have been enrolled in the follow-up system. Following the accumulation of multi-center data, LinkDoc and pharmaceutical companies have aligned the long-term development direction and objectives of the FH platform with data analysis and application, ultimately aiming to standardize clinical practice and benefit patients.

“More than two years of collaboration have made pharmaceutical companies highly favor LinkDoc’s FH-RD data platform model, establishing LinkDoc Technology as their exclusive partner in the field of familial hypercholesterolemia (FH). ‘In reviewing this collaboration, we found that the solution is replicable.’”

“Previously, LinkDoc’s focus was on the processing and mining of oncology data. In highly valuable large-scale oncology cohort studies, we identified a significant number of patients with rare diseases and related cases,” said Zhang Tianze. “Applying LinkDoc’s existing technological capabilities to the diagnosis, treatment, and patient services for rare diseases holds profound practical significance.”

“Referring to the 121 rare diseases listed in the First Batch of Rare Diseases Catalog (2018 Edition), ‘43 types of rare disease patients were identified, detected, monitored, and followed up within the oncology cohort,’ explained Zhang Tianze. Building on the successful experience of the LinkDoc FH-RD data platform model, the LinkDoc Big Data Platform can expand its scope from specific points to broader areas, serving more fields in rare diseases and covering a wider range of conditions.”

Furthermore, regarding the R&D of drugs for single rare diseases, LinkDoc Technology possesses service capabilities covering the entire drug lifecycle: Houpu Medicine can achieve high-efficiency patient recruitment to accelerate clinical studies; during the phase of physician awareness, LinkDoc Technology provides academic education and consulting services; its Neighbor·Smart Pharmacies (DTP), established in over 20 provinces across China, enable the delivery of oncology medications; when patients require medication support and management, LinkDoc Technology operates an internet hospital that was among the first to obtain a national internet hospital license; and as data accumulates, it further updates and establishes robust medical diagnostic evidence and insights, enabling the exploration of new indications for drugs through Real-World Studies (RWS) and leveraging medical expertise to facilitate drug commercialization.

Regarding the challenges in diagnosing and treating rare diseases, experts have pointed out two primary factors: first, parents’ limited awareness of rare diseases; and second, “physicians capable of accurately diagnosing rare diseases are even rarer than the patients themselves.” To address this, LinkDoc’s Smart Hospital Solution—the KM-CDSS platform—can automatically recommend optimal treatment plans to clinicians. The Clinical Decision Support System (CDSS) integrates drug information and therapeutic regimens, assisting physicians in providing care for patients with rare diseases and offering clinical decision support and rational medication recommendations to medical specialists. Furthermore, by constructing rare disease insurance models, the platform enables health insurance authorities and commercial insurers to conduct actuarial analyses for rare disease categories.

“Activating data intelligence to ensure that everyone has access to precise medical services is the mission of LinkDoc Technology.” In this regard, Zhang Tianze stated, “Looking back at this data-driven system for patient and data screening, we have found that it can deliver significant value not only in the field of oncology but also in the realm of rare diseases.”