IFord- Rare Disease

What are orphan and rare diseases?

Since the Orphan Drug Act was passed by Congress in 1983 to encourage the development of drugs for rare diseases, a rare disease has been defined as a disease or condition that affects fewer than 200,000 people in the United States. Orphan diseases are often used as a synonym for rare diseases.

There currently are over 7,000 identified rare diseases, affecting a total of over 30 million Americans. Despite advances in science, medicine and drug development, rare and orphan diseases remain scarcely investigated in the general population, and most of them do not have any FDA-approved treatment.

What are the challenges associated with the study and treatment of rare diseases?

The very small number of individuals for each disease poses unique challenges for the study of rare diseases.

Symptoms may vary between individuals or be misdiagnosed, making screening and early detection challenging.

The prevalence and incidence are normally difficult to define.

Comorbidities and associated factors often are unclear.

The small numbers of individuals also create challenges in clinical trials, with low statistical power possibly limiting the evaluation of the efficacy of a treatment or the possibility to draw any conclusion.

Research on rare diseases often relies on registries, which have limitations in terms of representativity, consistency of data, follow-up, biases and do not allow to establish prevalence and incidence.

Rare Diseases

What are orphan and rare diseases?

What are the challenges associated with the study and treatment of rare diseases?