At Longenesis, we believe that rare diseases deserve the same attention as the world's most common diseases, like heart disease, high blood pressure and asthma. These conditions have become household names due to their prevalence in the global health system and popular media - while "rare" diseases remain unknown to most patients and are not easily identified even by specialist doctors.

The European Union classifies rare diseases as affecting fewer than five people per 10,000. While these diseases may be "rare" in total cases and affected individuals, they have significant consequences for diagnosed patients.

One of the challenges in rare diseases is that doctors do not see these diseases frequently and cannot always make an immediate diagnosis. It may be even more difficult if a patient has an atypical presentation, especially for skin diseases. More research is needed in this field to help support physicians, patients and researchers.

Longenesis is using patient data to help train more doctors on rare skin diseases and connect patients to research opportunities, making it easier to identify and diagnose these conditions in real-time. We believe that unlocking a healthier future for all includes researching rare diseases as well - we are providing the tools needed to make this a reality.

Longenesis partnered with clinical and academic centres across Hungary and the Baltics to help achieve these goals. The partners include the Department of Atomic Physics and Spectroscopy at the University of Latvia, Riga Technical University and Department of Dermatology, Venerology, and Dermatooncology, Semmelweis University in Hungary.

Building a Rare Skin Diseases Registry with Longenesis Curator and Engage

The nature of rare diseases poses a unique set of challenges when identifying patient cohorts for a research study. Patients tend to be in different geographies, are treated by different doctors and often do not know others with similar conditions. Physicians face similar challenges. They may know about a relevant study looking to recruit patients but only have one or two patients that would meet the study criteria. While these factors make it more challenging, they also demonstrate why research in this area is vital.

There is a clear need for a digital patient registry in the rare skin disease space to host information on symptoms, prevalence and research opportunities. Through Longenesis Curator and Engage, we launched a registry that unlocks the power of borderless medical data for rare skin diseases.


For Diagnosed Patients

When a patient with a rare skin disease diagnosis visits a participating physician, they can provide consent to have their data anonymously listed in Curator for future identification in research studies. Curator showcases high-level metadata that captures the essentials of a patient's information for researchers to match with their study criteria. The metadata is hosted in Curator's secure registry, where researchers can seamlessly identify patients across different geographies and treatment groups.

This is a groundbreaking way for patients to connect with clinical research opportunities. Unlike the traditional process where patients spend hours scouring the web for potential studies actively recruiting participants, they are contacted by study sponsors directly when they might be a match for a project. These opportunities are particularly poignant for those diagnosed with rare diseases seeking more information and treatment for their condition.


For Misdiagnosed or Undiagnosed Patients

Patients with rare diseases typically struggle throughout the diagnosis process. There is a lack of readily available information on symptoms, specific diagnostic criteria and potential treatments. When rare disease patients see their doctors hoping for answers, they often face even more questions. Longenesis Engage makes it easier for physicians to answer these questions. Using Engage, they can collect data on patient symptoms and other elements of their condition, which is stored securely in a Longenesis registry.

In this study, Longenesis developed an Engage platform for physicians treating patients with rare skin diseases, collecting information such as patient symptoms, images of affected skin and other medical history notes. Engage's intuitive survey tool captured the necessary information with pre-formulated questions, making it easier for physicians to collect relevant data.

Patients could also elect to give consent for their anonymised medical information to be shared on the Longenesis Curator platform, where researchers could identify them as future participants for research studies. The metadata is accessible, meaning it can be used by other doctors to diagnose and treat individuals with similar symptoms if the patient consents to share their data. Consent is always dynamic, meaning patients can update their preferences on the Engage platform at any time.

Together, these tools were used to increase the understanding by physicians and researchers of these rare skin diseases and streamline care as well as future research.

Result: Global Knowledge Base on Rare Skin Diseases & Improved Diagnosis Rates

Our tools make it easier for doctors to understand rare skin diseases and better diagnose their patients. Not only that, but our borderless metadata platform protects privacy while also empowering affected patients to join studies on their condition. For patients seeking answers about their condition, this makes a world of difference.

Ilze Ļihačova, a leading researcher at the Biophotonics Laboratory at the Institute of Atomic Physics and Spectroscopy at the University of Latvia and a partner in this project, said, "Longenesis' digital tools make it easy to gather patient information, as well as introduce patients to the study and allow them to give their consent to the study in digital form. Digital tools not only enable the remote collection of patient insights but also save resources. We can also collect, analyse and sort data as needed - for example, by specific signs of the disease, age, gender, skin type and more."

At Longenesis, our mission is to unlock a healthier future for humans. We build software that makes it easier for medical data to be collected, analysed and utilised for better care. We are excited to see that our digitised patient databases are helping doctors to learn more about rare diseases, connect with other physicians in the field and easily reach patients for participation in groundbreaking research studies.

We look forward to being part of a future where rare skin disease patients have access to rapid diagnosis, treatments and results.

This study is ongoing and is expected to conclude by year 2023. To learn more about Curator and Engage and their applications for your area of medicine/research, please contact us.