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Study to Identify the Genetic Variations Associated With Phantom Limb Pain

This study is ongoing, but not recruiting participants.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01462448
First Posted: October 31, 2011
Last Update Posted: October 6, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Uniformed Services University of the Health Sciences
Information provided by (Responsible Party):
Henry M. Jackson Foundation for the Advancement of Military Medicine
  Purpose
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.

Condition Intervention
Phantom Limb Procedure: Blood Draw

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Study to Identify the Genetic Variations Associated With Phantom Limb Pain

Further study details as provided by Henry M. Jackson Foundation for the Advancement of Military Medicine:

Primary Outcome Measures:
  • Identification of Unique Single Nucleotides Polymorphisms (SNPs) associated with Phantom Limb Pain (PLP) [ Time Frame: 5 years ]
    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.


Secondary Outcome Measures:
  • Correlation between Phantom Limb Pain (PLP) and Blood Levels of Antibodies Associated with Peripheral Nerve Damage [ Time Frame: 5 years ]
    The underlying hypothesis of the secondary outcome measure is that damage to peripheral nerves provokes a humoral immune response to neuronal and glial proteins that can be detected by measuring specific antibodies in blood. The data obtained will lead to a more complete understanding of pathogenic mechanisms in PLP and potential biomarkers for sub-classification, prognosis, and intervention.

  • Correlation between Phantom Limb Pain (PLP) and Serum Levels of Brain-derived Neurotrophic Factor (BDNF) [ Time Frame: 5 years ]
    BDNF has been implicated in pain nociception and is therefore pertinent to our study of phantom limb pain. After peripheral nerve injury, BDNF expression is dramatically increased in pain receptors of the brainstem.

  • Correlation between Phantom Limb Pain (PLP) and Unique Transcribed RNA [ Time Frame: 5 years ]
    Many underlying causes for neuropathic pain involve changes in messenger ribonucleic acid (mRNA) levels because of altered gene expression or transcript stability. The study will isolate total RNA from blood and measure the relative amounts of transcribed RNA under the condition of phantom limb pain or no phantom limb pain.


Biospecimen Retention:   Samples With DNA
Whole blood, serum

Enrollment: 41
Study Start Date: March 2012
Estimated Study Completion Date: October 2018
Primary Completion Date: April 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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
Single blood draw of 30 ml
Other Name: Venipuncture
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
Single blood draw of 30 ml
Other Name: Venipuncture

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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01462448


Locations
United States, Maryland
Walter Reed National Military Medical Center (WRNMMC)
Bethesda, Maryland, United States, 20889
United States, Texas
The University of Texas Health Science Center at Houston
Houston, Texas, United States, 77025
Sponsors and Collaborators
Henry M. Jackson Foundation for the Advancement of Military Medicine
Uniformed Services University of the Health Sciences
Investigators
Principal Investigator: Paul F. Pasquina, MD, MC Walter Reed National Military Medical Center (WRNMMC)
  More Information

Publications:
Responsible Party: Henry M. Jackson Foundation for the Advancement of Military Medicine
ClinicalTrials.gov Identifier: NCT01462448     History of Changes
Other Study ID Numbers: 20429
HU0001-11-1-0005 ( Other Grant/Funding Number: Uniformed Services University of Health Sciences (USUHS) )
First Submitted: October 24, 2011
First Posted: October 31, 2011
Last Update Posted: October 6, 2017
Last Verified: October 2017

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Henry M. Jackson Foundation for the Advancement of Military Medicine:
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

Additional relevant MeSH terms:
Phantom Limb
Perceptual Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Pain, Postoperative
Pain
Postoperative Complications
Pathologic Processes
Signs and Symptoms