Page 23 - 2021 Spring CMTA Report - Special Research Edition

The Challenge of Rare Diseases

Clinical trials for rare diseases like CMT, which affect fewer than 200,000
people in the United States, present additional challenges. Populations are small,
limiting opportunity for study and replication. Genetic disorders like CMT are
often characterized by a wide range of severity, clinical presentation and
rate of progression. Rare diseases are often poorly understood and natural
histories incompletely described. Diagnosis is often difficult, with years between
presentation and diagnosis. Many rare diseases are serious or life-threatening,
and many who have them have unmet medical needs. Regulatory and drug
development precedent is often lacking, as are outcome assessment tools.
The FDA review team thoroughly examines all submitted data on the drug
and makes a decision whether to approve it. The NDA’s purpose is to
demonstrate that a drug is safe and effective for its intended use in the population
studied. Along with clinical results, developers must include proposed labeling,
safety updates, drug abuse information, patent information, data from studies
conducted outside the United States, Institutional Review Board compliance
information and directions for use.

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