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Genetics and Phantom Limb Pain

This study has been withdrawn prior to enrollment.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: January 24, 2012
Last updated: June 30, 2017
Last verified: July 30, 2014


- Many people who lose a limb feel pain in the missing limb. This feeling is called phantom limb pain. Researchers do not fully understand what causes this pain. Differences in people's genes may play a role. Comparing the genes of people with and without phantom limb pain may help researchers better understand this feeling, who is likely to develop it, and how to treat it.


- To study whether genetic differences affect phantom limb pain.


- Individuals at least 18 years of age who have lost an arm or leg at least 3 months ago.


  • Participants will be screened with a medical history and physical exam.
  • Participants will answer questions about how they lost the limb, and whether they feel phantom limb pain. They will also have a test to measure their sensitivity to heat and cold.
  • Participants will provide a blood sample for genetic testing.

Polymorphism-Genetic Amputation Pain

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Integrative Genomic Analysis In Phantom Limb Pain

Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • SNP frequency between PLP and non-PLP group

Secondary Outcome Measures:
  • Gene expression profile between PLP and non-PLP group
  • Epigenetic profile between PLP and non-PLP group

Enrollment: 0
Study Start Date: January 3, 2012
Estimated Study Completion Date: July 30, 2014
Detailed Description:


The proposed clinical trial will investigate the role of the human genome including genetic variations and gene expression profiles on the development of phantom limb pain (PLP).

Study population:

Patients will be recruited from military personnel with major limb amputations. A total of one thousand subjects with upper or lower extremity amputations of any level will be enrolled in this study.


Eight hundred subjects with chronic PLP (PLP patient) and 200 patients without PLP (non-PLP patient) will assess the severity of their pain symptom. Each participant will undergo a routine blood draw from which DNA and RNA will be harvested.

Outcome measures:

Using Affymetrix SNP 6.0 technology, which identifies up to 1 million single nucleotide polymorphisms (SNPs) and 1 million copy number variations in the human genome, the differences in genomic variations between the PLP and the non-PLP patients will be analyzed. An extreme subset of PLP patients will be tested for their quantitative sensory function and profiled gene expression and epigenetic pattern with the Affymetrix Human Exon ST 1.0 and Illumina Genome Analyzer IIx. These integrative genomic analyses using genetic variations, gene expression and epigenetic profile could explain why some amputees experience chronic PLP and some do not. By studying these responses in patient samples, we will evaluate the role of genomic factors in PLP. SNP frequencies, gene expression and epigenetic profiles between PLP and non-PLP groups will be analyzed.


Ages Eligible for Study:   18 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


  • at least 18 years of age
  • Single or multiple upper and/or lower limb amputation
  • At least three months post-amputation
  • Ability to follow study instructions in English
  • Currently present on-going PLP for at least one month and at least 3 times per week


-same with PLP group except:

--Experienced PLP less than 10 times total and/or for less than two weeks



  • Chronic systemic disease which might affect pain sensitivity and ability to participate in this study s blood draw
  • Any disease (such as hemophilia) or medication regimen (such as warfarin) increasing hemorrhage that would make a blood draw dangerous or inadvisable for the subject
  • Known uncontrolled systemic diseases; known cancer not in remission, known on-going infection, lupus, kidney disease requiring dialysis, any other systemic disease which might affect ability to participate in this study s blood draw
  • Inability to provide his/her own informed consent
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01517061

Sponsors and Collaborators
National Institute of Nursing Research (NINR)
Principal Investigator: Hyungsuk Kim, D.D.S. National Institute of Nursing Research (NINR)
  More Information

Publications: Identifier: NCT01517061     History of Changes
Other Study ID Numbers: 120054
Study First Received: January 24, 2012
Last Updated: June 30, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Phantom Limb Pain
Genetic Polymorphisms
Genetic Susceptibility

Additional relevant MeSH terms:
Phantom Limb
Perceptual Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Pain, Postoperative
Postoperative Complications
Pathologic Processes
Signs and Symptoms processed this record on September 18, 2017