Genetics and Pain Severity in Sickle Cell Disease

Completed

Conditions studied: Genotype, Pain, Genetic Variation, Quantitative Sensory Testing (QST), GCH1

In brief

Background: \- Pain is the most common symptom of sickle cell disease. Episodes of severe sickle cell pain are known as "crises." High rates of pain crises are associated with a higher risk of early death. Some people with sickle cell disease have many severe pain crises while others experience fewer crises. This difference in pain crisis may be caused by sensitivity to pain. People with high sensitivity to pain may have more pain crises. Many factors, including a person's genetic makeup, determine sensitivity to pain. Comparing genetic information from people with sickle cell disease and healthy volunteers may provide more information on pain and sickle cell disease. Objectives: \- To study genetics and pain sensitivity in sickle cell disease. Eligibility: * African or African American individuals at least 18 years of age with sickle cell disease. * Healthy African or African American volunteers at least 18 years of age. Design: * Participants will be screened with a medical history and physical exam. They will also provide blood and urine samples. * Participants will have the following tests: * Quantitative sensory testing to measure sensitivity to pressure, heat, cold, and mechanical pain. * EndoPat test to measure blood vessel function and reaction. * Questionnaires about mood, evidence of depression, pain, quality of sleep, and sleep disturbances. * Measures of daily pain, whether or not related to sickle cell disease. * After the first visit, those in the study will have monthly study visits for 6 months. The above tests will be repeated at these visits.

Key facts

Study ID

NCT01441141

Run by

National Heart, Lung, and Blood Institute (NHLBI)

People needed

67

Starts

2012-06-17

Expected to finish

2020-12-09

Last updated by the study team

2020-12-10

Who can join

Age: 18 and older, up to 99. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Inclusion Criteria for Sickle Cell Patients
• Diagnosis of sickle cell disease (documentation of SS, SC, S beta + thalassemia, S beta + thalassemia by electrophoresis is required).
• If taking chronic analgesics (NSAID, acetaminophen) or opioids, study subjects should be on a stable dose for 4 weeks prior to recruitment.
• Inclusion Criteria for Control Subjects
• Hemoglobin AA genotype by HPLC or hemoglobin electrophoresis.
• General good health defined as the absence of untreated major medical conditions (e.g. uncontrolled systemic hypertension, etc.).

You may not qualify if…

• Exclusion Criteria for Sickle Cell Patients
• History of severe vaso-occlusive pain crisis resulting in either evaluation in an emergency department or admission to a hospital during the two weeks prior to study enrollment.
• Acute pain at the time of enrollment defined as spontaneous recent onset pain with a self rated score of 6 or higher on a scale of 0-10. (This is acute pain not the pain that subjects function at on a daily basis.)
• Exclusion Criteria for Control Subjects
• Acute pain or injury at enrollment or a recent history of chronic pain (daily pain reported for at least 6 months) in the past 3 years.
• Major medical/psychiatric illness known to cause pain.
• Sickle cell trait.

Where it is running

• National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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