Rare and orphan diseases are the diseases that affect very few people of the entire population. There are approximately 1 out of 17 people among 3.5 million population of UK who get affected by rare diseases. Rare disease and orphan disease are both uncommon diseases, but categorically they are different. Rare diseases are the diseases that affect fewer numbers of individuals, but they are known diseases, and there are few existing treatment procedures also. But orphan diseases are rare and neglected conditions whose treatments are not considered to be profitable. Hence, only a few research studies have been conducted, or none at all started yet. The rarity of these diseases creates challenges for running clinical trials.
What are rare and orphan diseases?
The orphan diseases that need future research studies and innovative clinical trials are as mentioned here.
- Fabry’s disease
- alveolar echinococcosis
- Endometrial cancer diabetes in preschool children
The examples of rare diseases that are uncommon but still have few treatments are
- Acute intermittent porphyria
- Alkaptonuria
- Dermatomyositis
- Giant cell arteritis
- Polymyositis
Clinical trials for rare and orphan diseases
The clinical trials are the research studies that investigate the safety of a new drug and treatment and find out the effect of it on the human body before large-scale application. It runs through four phases to identify the rare and orphan diseases, such as
- Assessing clinical safety of dosage
- Analyzing effectiveness and side effects of dosage
- Evaluation of efficacy and comparison with standard procedure
- Monitoring the long-term effect after approval
The WHO initiative on International Clinical Trials Registry Platform (ICRPR) websites provides the opportunity for clinical trials across the globe and pca certification online. The people are encouraged to participate in clinical trial programs to develop treatment procedures for particular rare and orphan diseases.
Although the clinical trials for rare and orphan diseases face significant challenges due to the rarity of the illness, only small populations are eligible for clinical trials for rare diseases. In that case, the outcome of the assessment is not applicable for the clinical development of a large number of people. The major initiatives taken for mitigating such challenges are
- Recruitment of trial participants through clinical trials registry platform.
- Maintaining a centralized database for rare and orphan disease trials is a highly effective initiation to mitigate the challenges.
- The initiative of National Congenital Anomaly and Rare Diseases to validate and register data at patients’ various stages of life collected from hospitals and specialized centers is a rich source of data for conducting clinical trials of rare and orphan diseases.
People living with rare and orphan diseases face critical challenges due to prolonged diagnosis procedures and rarely available drugs at present. But the recent initiatives through innovative clinical trial design and recruiting trial participants through various channels explore the new alternatives.
Frequently Asked Questions
What should I do in case of a rare and orphan disease?
If you have any new symptoms or changes, immediately consult your healthcare professional for diagnosis and treatment.
Where can I get a list of rare diseases?
The National Organization for Rare Disorders (NORD) website can give you details of rare diseases.
Can rare and orphan diseases be prevented?
Complete prevention may not be possible if this is genetic, but early prediction can control further development.
