NCT01462448

Study to Identify the Genetic Variations Associated With Phantom Limb Pain

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 726 (actual)
• Sponsor: Henry M. Jackson Foundation for the Advancement of Military Medicine · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The purpose of this study is to determine if there is a genetic component to phantom limb pain. DNA will be analyzed for single nucleotide polymorphisms (SNPs) between the control and phantom limb pain group. Total RNA will also be isolated and profiled to asses the degree to which our gene(s) of interest are expressed in the presence or absence of phantom limb pain. Some proteins, such as inflammatory antibodies or the neurotrophin brain-derived neurotrophic factor (BDNF), will also be assessed for their association(s) with phantom limb pain.

Detailed description

Most patients (90-95%)with major limb amputations experience a phantom limb--the vivid impression that the limb is still present. In many cases, the sensation is painful for reasons that are currently not well understood. A small subset of amputees (\<10%) never experience phantom limb pain (PLP), the painful sensation felt in the amputated limb. This difference suggests that there may be a genetic component that precludes some patients from ever experiencing PLP. Understanding the genetic components of PLP may help in predicting which patients will experience PLP and which amputees will respond to the various treatment options available. In order to understand the genetic aspects and ultimately develop more effective treatment options in the future, patients with and without PLP will be asked to give 30 mls of blood after overnight fasting. These blood samples will be de-identified and sent to the National Institutes of Health (NIH) in Bethesda, Maryland, where all of the genetic analyses will take place.

Conditions

• Phantom Limb

Interventions

Type	Name	Description
PROCEDURE	Blood Draw	Single blood draw of 30 ml

Timeline

• Start date: 2012-03-01
• Primary completion: 2014-04-01
• Completion: 2023-08-06
• First posted: 2011-10-31
• Last updated: 2025-08-12

Locations

1 site across 1 country: United States