Title:Trends of Clinical Trials for Drug Development in Rare Diseases
VOLUME: 13 ISSUE: 3
Author(s):Ryuichi Sakate, Akiko Fukagawa, Yuri Takagaki, Hanayuki Okura and Akifumi Matsuyama*
Affiliation:Center for Rare Disease Research, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Office of Policy and Ethics Research, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Office of Policy and Ethics Research, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Center for Rare Disease Research, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, Center for Rare Disease Research, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka
Keywords:ClinicalTrials.gov, EU Clinical Trials Register, the Japan Primary Registries Network, Orphanet, DrugBank,
a limited number of trials, cancer-related rare diseases, drug repositioning.
Abstract:Background: Drug development for rare diseases is challenging because it is difficult to
obtain relevant data from very few patients. It must be informative to grasp current status of clinical
trials for drug development in rare diseases.
Objective: Clinical trials in rare diseases are to be outlined and compared among the US, EU and
Japan.
Method: ClinicalTrials.gov (NCT, National Clinical Trial), EU Clinical Trials Register (EUCTR)
and the Japan Primary Registries Network (JPRN) were analyzed. Clinical trials involving information
on rare diseases and drugs were extracted by text-mining, based on the diseases and drugs derived
from Orphanet and DrugBank, respectively.
Results: In total, 28,526 clinical trials were extracted, which studied 1,535 rare diseases and 1,539
drugs. NCT had the largest number of trials, involving 1,252 diseases and 1,332 drugs. EUCTR and
JPRN also had registry-specific diseases (250 and 22, respectively) and drugs (172 and 29, respectively)
that should not be missed. Among the 1,535 rare diseases, most diseases were studied in
only a limited number of trials; 70% of diseases were studied in fewer than 10 trials, and 28% were
studied in only one. Additionally, most studied rare diseases were cancer-related ones.
Conclusion: This study has revealed the characteristics of the clinical trials in rare diseases among
the US, EU and Japan. The number of trials for rare diseases was limited especially for non-cancerrelated
ones. This information could contribute to drug development such as drug-repositioning in
rare diseases.
