Study to Identify the Genetic Variations Associated With Phantom Limb Pain

NCT01462448 | Completed

• 2 other identifiers: 20429HU0001-11-1-0005
• Study Type: observational
• Target: 726
• Locations: 1 country
• Sites: 1

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.

Conditions

Phantom Limb

Keywords

Phantom Limb; Genetic Variation; DNA Sequence Analysis; Amputation, Traumatic; Single Nucleotide Polymorphism; Visual Analog Pain Scale; Brain-Derived Neurotrophic Factor; Inflammatory Antibody; Peripheral Nerve Damage

Outcome Measures

Primary Outcomes (1)

• Identification of Unique Single Nucleotides Polymorphisms (SNPs) associated with Phantom Limb Pain (PLP)

  The primary outcome measure for this study is the identification of unique SNPs that may correlate with PLP. Patients will undergo a one-time blood draw and fill out a survey characterizing their phantom limb pain. The PLP characteristics along with DNA analysis using Affymetrix SNP chip technology will be used to match genotype with phenotype.

  5 years

Secondary Outcomes (3)

• Correlation between Phantom Limb Pain (PLP) and Blood Levels of Antibodies Associated with Peripheral Nerve Damage

  5 years

• Correlation between Phantom Limb Pain (PLP) and Serum Levels of Brain-derived Neurotrophic Factor (BDNF)

  5 years

• Correlation between Phantom Limb Pain (PLP) and Unique Transcribed RNA

  5 years

Study Arms (2)

Phantom Limb Pain

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

Procedure: Blood Draw

No Phantom Limb Pain

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

Procedure: Blood Draw

Interventions

Blood Draw PROCEDURE

Single blood draw of 30 ml

Also known as: Venipuncture

No Phantom Limb Pain; Phantom Limb Pain

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects to be recruited at WRNMMC will be military health care beneficiaries age 18 and older who have sustained one or more amputations.

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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Henry M. Jackson Foundation for the Advancement of Military Medicine: lead
• Uniformed Services University of the Health Sciences: collaborator

Study Sites (1)

Walter Reed National Military Medical Center (WRNMMC)

Bethesda, Maryland, 20889, United States

Location

Related Publications (6)

• 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.

  PMID: 9272791 BACKGROUND

• 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.

  PMID: 10863043 BACKGROUND

• 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.

  PMID: 9762952 BACKGROUND

• 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.

  PMID: 6709380 BACKGROUND

• 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.

  PMID: 2293143 BACKGROUND

• 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.

  PMID: 6657285 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, serum

MeSH Terms

Conditions

Phantom Limb; Amputation, Traumatic; Neuritis

Interventions

Blood Specimen Collection; Phlebotomy

Condition Hierarchy (Ancestors)

Perceptual Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Pain, Postoperative; Postoperative Complications; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Pain; Wounds and Injuries; Peripheral Nervous System Diseases; Neuromuscular Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Therapeutics

Study Officials

• Paul F. Pasquina, MD, MC

  Walter Reed National Military Medical Center (WRNMMC)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 24, 2011
• First Posted: October 31, 2011
• Study Start: March 1, 2012
• Primary Completion: April 1, 2014
• Study Completion: August 6, 2023
• Last Updated: August 12, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)