Study to Identify the Genetic Variations Associated With Phantom Limb Pain

NCT ID: NCT01462448

Last Updated: 2025-08-12

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 726 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2012-03-31
• Study Completion Date: 2023-08-06

Brief 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

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Phantom Limb Pain

Subjects will have lower or upper extremity amputation(s) that have resulted in the presence of phantom limb pain.

Blood Draw

Intervention Type: PROCEDURE

Single blood draw of 30 ml

No Phantom Limb Pain

Subjects in the group will have a lower or upper extremity amputation(s) without the presence of phantom limb sensation.

Blood Draw

Intervention Type: PROCEDURE

Single blood draw of 30 ml

Interventions

Blood Draw

Single blood draw of 30 ml

Intervention Type: PROCEDURE

Other Intervention Names

Venipuncture

Eligibility Criteria

Inclusion Criteria

Chronic PLP Group:

• At least 18 years of age.
• Written informed consent and written authorization for use or release of health and research study information
• Single or multiple upper and/or lower limb amputation
• At least three months post-amputation
• Ability to follow study instructions and likely to complete required visit(s)
• Experienced PLP for at least one month and at least 3 times per week
• Phantom limb pain differentiated from residual limb pain by physical exam.
• Subjects taking blood thinners or other medications that do not increase risk during a blood draw.

Non-Chronic PLP Group:

• At least 18 years of age.
• Written informed consent and written authorization for use or release of health and research study information
• Single or multiple upper and/or lower limb(s) amputation
• At least three months post-amputation
• Ability to follow study instructions and likely to complete required visit(s)
• Experienced PLP less than 10 times total and/or for less than two weeks
• Subjects taking blood thinners or other medications that do not increase risk during a blood draw.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Uniformed Services University of the Health Sciences

FED

Sponsor Role: collaborator

Henry M. Jackson Foundation for the Advancement of Military Medicine

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Paul F. Pasquina, MD, MC

Role: PRINCIPAL_INVESTIGATOR

Walter Reed National Military Medical Center (WRNMMC)

Locations

Walter Reed National Military Medical Center (WRNMMC)

Bethesda, Maryland, United States

Countries

United States

References

Katz J, Melzack R. Pain 'memories' in phantom limbs: review and clinical observations. Pain. 1990 Dec;43(3):319-336. doi: 10.1016/0304-3959(90)90029-D.

Reference Type: BACKGROUND

PMID: 2293143 (View on PubMed)

Montoya P, Larbig W, Grulke N, Flor H, Taub E, Birbaumer N. The relationship of phantom limb pain to other phantom limb phenomena in upper extremity amputees. Pain. 1997 Aug;72(1-2):87-93. doi: 10.1016/s0304-3959(97)00004-3.

Reference Type: BACKGROUND

PMID: 9272791 (View on PubMed)

Kooijman CM, Dijkstra PU, Geertzen JHB, Elzinga A, van der Schans CP. Phantom pain and phantom sensations in upper limb amputees: an epidemiological study. Pain. 2000 Jul;87(1):33-41. doi: 10.1016/S0304-3959(00)00264-5.

Reference Type: BACKGROUND

PMID: 10863043 (View on PubMed)

Ramachandran VS, Hirstein W. The perception of phantom limbs. The D. O. Hebb lecture. Brain. 1998 Sep;121 ( Pt 9):1603-30. doi: 10.1093/brain/121.9.1603.

Reference Type: BACKGROUND

PMID: 9762952 (View on PubMed)

Sherman RA, Sherman CJ, Parker L. Chronic phantom and stump pain among American veterans: results of a survey. Pain. 1984 Jan;18(1):83-95. doi: 10.1016/0304-3959(84)90128-3.

Reference Type: BACKGROUND

PMID: 6709380 (View on PubMed)

Jensen TS, Krebs B, Nielsen J, Rasmussen P. Phantom limb, phantom pain and stump pain in amputees during the first 6 months following limb amputation. Pain. 1983 Nov;17(3):243-256. doi: 10.1016/0304-3959(83)90097-0.

Reference Type: BACKGROUND

PMID: 6657285 (View on PubMed)

Other Identifiers

HU0001-11-1-0005

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

20429

Identifier Type: -

Identifier Source: org_study_id