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Phantom LimbNCT01462448

Study to Identify the Genetic Variations Associated With Phantom Limb Pain

An observational study of Phantom Limb, run by Henry M. Jackson Foundation for the Advancement of Military Medicine at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial 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. Read more about this study

Who is it for?
Ages 18 years and olderHealthy volunteers can take part
Conditions the study is for
Phantom Limb
What is being tested?
Blood Draw
Type of treatment
Surgery or procedure
How many people
726 participants
Where
1 siteUnited States
Study dates
Mar 2012to 6 Aug 2023
Phase
Observational
Are there results?
None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • Healthy volunteers accepted
  • Adult, Older adult

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.

Trial locations and contacts

1 site in 1 country.

United States1 site

  • Walter Reed National Military Medical Center (WRNMMC)

    Bethesda, Maryland, 20889

Other trials in United States

About this study

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.

Read the 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
Being tested
Blood Draw
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
Medical subject headings
Phantom Limb, Amputation, Traumatic, Neuritis

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • Blood DrawProcedure or surgery

    Also called Venipuncture

    Single blood draw of 30 ml

Study groups in NCT01462448
Study groupRoleWhat they receive
Phantom Limb PainSubjects will have lower or upper extremity amputation(s) that have resulted in the presence of phantom limb pain.
Receives: Procedure: Blood Draw
No Phantom Limb PainSubjects in the group will have a lower or upper extremity amputation(s) without the presence of phantom limb sensation.
Receives: Procedure: Blood Draw

What is being measured

The primary outcome is the main question the study is designed to answer.

  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.

    Measured: 5 years

Secondary outcomes (3)

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

    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.

    Measured: 5 years

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

    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.

    Measured: 5 years

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

    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.

    Measured: 5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted31 Oct 2011 (estimated)
  2. Study startMar 2012
  3. Primary completionApr 2014
  4. Study completion6 Aug 2023

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Case-control
Time perspective
Cross-sectional
Enrolment
726 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT01462448
Sponsor's protocol ID
20429
Other IDs
HU0001-11-1-0005
Status last verified
Aug 2025
First submitted
24 Oct 2011
Last updated
12 Aug 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • 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.

    PubMed 9272791

  • 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.

    PubMed 10863043

  • 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.

    PubMed 9762952

  • 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.

    PubMed 6709380

  • 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.

    PubMed 2293143

  • 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.

    PubMed 6657285

Questions about this trial

What is this clinical trial studying?

An observational study of Phantom Limb, run by Henry M. Jackson Foundation for the Advancement of Military Medicine at 1 site in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 12 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Identification of Unique Single Nucleotides Polymorphisms (SNPs) associated with Phantom Limb Pain (PLP) (time frame: 5 years). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01462448, which also lists 6 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2025.

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