Genetics and Phantom Limb Pain

Conditions:Chronic Pain, Psychiatric
Therapuetic Areas:Musculoskeletal, Psychiatry / Psychology
Age Range:18 - 60
Start Date:January 2012
Contact:Hyungsuk Kim, D.D.S.
Phone:(301) 435-8398

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Integrative Genomic Analysis In Phantom Limb Pain


- 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

- Participants will provide a blood sample for genetic testing.


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.



- 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
We found this trial at
6900 Georgia Ave NW
Washington, District of Columbia 20307
(202) 782-6849
Walter Reed Army Medical Center The Walter Reed National Military Medical Center is one of...
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9000 Rockville Pike
Bethesda, Maryland 20892
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
Bethesda, MD
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