Rare Disease 2025 -Challenge of Data Collection

It was written by Aurore Sommer, a medical writer.

The disease is rarely considered if it affects less than one out of 2,000. More than 6,000 rare diseases have been confirmed today, influencing about 300 million people worldwide (1). Rare diseases are often serious and weak, and there is no existing effective treatment. Rare diseases are risk of not being supported by medical systems because there is a high number of geographically distributed patients affected by each condition and lack of evidence of the disease process and effective treatment (2).

Lack of knowledge of rare diseases between patients and medical professionals often leads to diagnostic delay. Symptoms of rare diseases may be difficult to overlap or diagnosis with general diseases, and the symptoms may vary by patient (1, 3). The main data of information about rare diseases, OrphanIn 1997, it was created with the goal of providing high quality information and expertise and creating knowledge of rare diseases. Orphanet offers all free services and resources.

The difficulty in creating data for the treatment of rare diseases is that it is difficult to recruit sufficient participants to partially investigate new or existing drugs (4). The small test number can limit the options for the test design, use the standard statistical model, and make it difficult to replicate the research model. In addition, random clinical trials (RCT) can be difficult to act due to ethical considerations. For example, if a rare disease is serious, the use of placebo can be non -ethical (5). For rare diseases that are impossible to RCT, the actual evidence (RWE) for standard treatment can be used as historical control. Patient registration agencies that collect data to evaluate certain results of certain diseases can be used even if there is no RCT, and there are currently listed in Europe or more than 800 registrations (6). RWE is considered to promote approach to new treatments for rare diseases in the process of approval of drugs (7).

Initiatives, such as Rare Disease Day, aim to raise awareness of challenges faced by people with rare diseases. The long -term goal of the rare disease day campaign is to ensure a fair approach to the opportunity to be affected by diagnosis, treatment, health care, social support and rare diseases (1). Further research is still needed to develop scientific knowledge, from collecting more data for each disease itself, to produce evidence for new treatment. You can learn more about how to raise awareness of rare diseases and rare diseases. here.

For more information about market access services, please contact Source Health Economics, a HEORCE ECOOMICS, which specializes in creating evidence, health economy and communication.

reference

1. Rare disease 2025. Available:
2. National Health and Nursing Excellence Research Institute (NICE). Can be used: https://www.nice.org.uk/process/pmg46/nice-trontCiples-compement-packer-pu Blic-Health-Social-Care-Care-Rare-DISEASE-TOPICS-134303555949/Strategic-Principles-For-Rare-DiseaSEAS.
3. LIFEARC. Can be used: https://www.lifearc.org/2024/6-Challenges- in-rare-disease-disEASE-should-we-can-can-more.
4. MISHRA et al. Orphanet j rare dis. 2024; 19 (1): 285.
5. Dayer et al. Orphanet j Rare words. 2024; 19 (1): 47.
6. Hageman et al. Orphanet j rare dis. 2023; 18 (1): 106.
7. ETLA et al. Ophave J rare dis. 2024; 19 (1): 117.