Rare Diseases and Challenges in Conducting Clinical Trials

by | Apr 30, 2019 |

Rare disease is characterised as a condition which affects very fewer individuals (Europe: <1 in 2000 and USA: <200,000). Mostly, the rare disease is genetically originated resulting in the persistence throughout life. In this scenario, the affected patients face both social and financial burdens.

The initial challenge faced by the patients with rare disease is the lack of symptoms. Even if the symptoms develop, they are known to vary from person to person with the same disease leading to misdiagnosis. Various on-going studies demonstrated that for many patients suffering from rare diseases, the right diagnosis is a long and frustrating path for the patient. This is because the concerned doctors have no scientific knowledge or other historical data about that disease.

If the rare disease is diagnosed on time, another challenge comes in the form of the lack of cure. This happens as the Pharmaceutical companies are not interested in developing treatments for these diseases due to the obvious reason of the lack of market support (or medicine demand).

Role of Clinical Trials

Clinical trials can help researchers and physicians for the proper management of patients with rare diseases. Patients have abundance data about their condition, so their viewpoint can direct researchers in understanding the synchronization between clinical outcomes information and how treatment impacts patients’ health and personal satisfaction. The effective treatment can be brought into the market by the effective collaboration of physicians, institutions, and patient groups. By doing so, the best plan in the form of a protocol can be designed and it has been observed that this strategy has successfully brought new treatments to the market for rare diseases. A well-designed clinical trial can help in early patient recruitment. After recruiting, the patient’s home‐based care using digital methods such as electronic devices for continuous monitoring, smartphones, etc, may be helpful in overcoming follow-up problems.

Clinical trials for rare diseases are generally conducted at international level which involves multiple sites and thus, multiple regulatory authorities. This creates budgetary restrictions for the sponsors. But many people are not aware about the opportunities related to conducting the clinical trials for rare diseases. The Orphan Drug Act of 1983 has made budgetary incentives such as protocol assistance (written recommendations from the US Food and Drug Administration), tax credits, waiver of marketing application fee, orphan product development grants, and, 7-year marketing exclusivity once the drug is approved by FDA, to urge organisations to advance new medications for these diseases. This Act has helped to bring >400 drugs and biologic products for rare diseases into the market. The US-based National Organization for Rare Disorders (NORD) shares information to help the patients and their doctors decide whether specific studies are appropriate for the patients or not.

Patients with rare diseases invest a lot of energy being wrongly analysed, mistakenly assessed and treated, and they experience decreased personal satisfaction. Therefore, physicians should analyse strategies to manage the burden of this illness on patients.


Get in Touch