Cultural, geographical and ethical questions when looking to enroll pediatric patients in rare disease clinical trials

ABSTRACT

Introduction: Rare diseases are becoming increasingly recognized worldwide as an important public health challenge and Orphan Drugs begin to play an important role in Research and Development. There are several major issues concerning conducting clinical trials in the field of Rare Diseases, especially in children, as 80% of those diseases are genetic in origin and involve, in most instances, children.

Areas covered: This review concentrates on challenges associated with the patient recruitment process. The authors experience and opinion was complemented by a systematic search of relevant literature and includes ethical, cultural and geographical issues with rare diseases. The review presents current opinion and provides valuable support for planning and conducting clinical research in rare diseases.

Expert opinion: The expert opinion section concentrates on importance of future rare disease clinical research in the context of understanding common diseases and developing new treatment options.

KEYWORDS:

• Rare diseases
• pediatrics
• ethics
• culture
• geography
• patient recruitment
• social support
• interdisciplinary communication
• registries
• patient selection
• internet

Article highlights

• 75% of rare diseases affect children and 30% of rare disease patients die before the age of 5.

• Children are currently recognized as a very vulnerable population, and are frequently omitted from clinical studies.

• Pediatric trials should be rather conducted when there is no possibility of accurately extrapolating data from the adult population.

• Randomized Controlled Trials often require large number of patients which is unrealistic in relation to rare diseases.

• It seems that the most effective recruitment tool is social media.

• The orphan drugs discovery process will accelerate in the coming years.

This box summarizes key points contained in the article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This paper is not funded