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Trial record 67 of 569 for:    Genetic AND SNP

Genetics and Phantom Limb Pain

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. Identifier: NCT01517061
Recruitment Status : Withdrawn
First Posted : January 25, 2012
Last Update Posted : June 14, 2019
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:


- 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....

Condition or disease
Polymorphism-Genetic Amputation Pain

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.

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Study Type : Observational
Actual Enrollment : 0 participants
Time Perspective: Retrospective
Official Title: Integrative Genomic Analysis In Phantom Limb Pain
Study Start Date : January 3, 2012
Study Completion Date : July 30, 2014

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

Secondary Outcome Measures :
  1. Gene expression profile between PLP and non-PLP group
  2. Epigenetic profile between PLP and non-PLP group

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.

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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

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 identifier (NCT number): NCT01517061

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

Layout table for additonal information Identifier: NCT01517061     History of Changes
Other Study ID Numbers: 120054
First Posted: January 25, 2012    Key Record Dates
Last Update Posted: June 14, 2019
Last Verified: July 30, 2014

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

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