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Assessment of US pathway for approving medical devices for rare conditions

BMJ 2014; 348 doi: (Published 17 January 2014) Cite this as: BMJ 2014;348:g217
  1. Thomas J Hwang, researcher12,
  2. Daniel Carpenter, professor3,
  3. Aaron S Kesselheim, assistant professor2
  1. 1Faculty of Arts and Sciences, Harvard University, Cambridge, MA 02138, USA
  2. 2Program on Regulation, Therapeutics, and Law (PORTAL), Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02120, USA
  3. 3Centre for American Political Studies, Faculty of Arts and Sciences, Harvard University
  1. Correspondence to: A S Kesselheim akesselheim{at}
  • Accepted 2 January 2014

An FDA program established in the 1990s made it easier for manufacturers to get devices for rare diseases into use. Thomas J Hwang and colleagues examine how the program has been used and what can be learnt for US and European device regulation

In the US, manufacturers of high risk devices must submit data to the Food and Drug Administration (FDA) to demonstrate safety and effectiveness before the devices can be approved for wide use.1 The humanitarian device exemption (HDE) was established by the Safe Medical Devices Act of 1990 to encourage device manufacturers to develop products for treating or diagnosing rare diseases. Under the exemption, manufacturers do not have to provide the high quality data on effectiveness that would normally be expected for high risk devices, but they must still prove that the device is safe and that the probable benefits outweigh the risks from its use and that of alternative forms of treatment.

Policymakers in the US and Europe continue to examine and update the regulation of medical devices (box 1). Current EU proposals to require manufacturers of high risk devices to submit a clinical investigation report and publish a summary are similar to the requirements for HDE devices in the US. However, the EU proposals apply to all high risk devices not just those for rare diseases. We examine the scientific and regulatory characteristics of devices approved under the humanitarian device exemption since its inception and consider the benefits and risks of this pathway.

Box 1: EU medical device regulation

In Europe, responsibility for the approval of medical devices falls on commercial organisations known as notified bodies, which grant permission for manufacturers to display a Conformité Européenne (CE) mark if the device meets certain performance and safety criteria. Notified bodies are overseen by national regulators in each EU member state. Generally, a …

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