Studies in the Pathogenesis of Systemic Capillary Leak Syndrome
- Systemic Capillary Leak Syndrome (SCLS) is a disorder of unknown cause characterized by episodes of life-threatening drop in blood pressure and leakage of fluids into tissues. The outcome from an episode of SCLS may be mild and resolve on its own, or may be severe and result in death. Although SCLS likely involves abnormalities in the cells lining blood vessels, the specific cause(s) of this disorder are not known.
- The treatment of choice for an acute SCLS episode is intravenous fluids and drugs such as norepinephrine (adrenaline), which are given to keep blood pressure at a level that will maintain vital organ function. This may be followed by a course of intravenous steroids. Currently, there is no cure or long-term effective preventive therapy for patients who experience recurrent episodes of SCLS.
- This protocol is focused on understanding what causes SCLS with the hope that research findings will lead to the design of safe and more effective treatments.
- To investigate mechanisms that may cause Systemic Capillary Leak Syndrome.
- Patients between 16 and 65 years of age who have been diagnosed with SCLS.
- Patients must have a documented history of at least one episode of SCLS with all three of the following documented on at least one occasion: low blood volume, low blood pressure without cause, or evidence of protein leakage during the episode. Patients will also need to provide a letter of a referral from a treating physician.
Patients will be evaluated at the National Institutes of Health (NIH) for approximately 4 to 5 days on an inpatient basis, and will undergo the following procedures:
- Medical history and physical examination.
- Blood samples for evaluation and research purposes, as well as possible genetic testing.
- Apheresis procedure to obtain a larger volume of blood cells for research.
- Bone marrow biopsy, if medically indicated.
- Other medically indicated tests, such as skin tests to check for possible allergic reactions.
- Patients who have a capillary leak episode while at NIH will be treated with the standard of care for treating SCLS.
- Patients will be discharged from the protocol 2 weeks after the NIH visit.
- Relatives (who are between 1 and 80 years of age) of SCLS patients may also be asked to provide blood samples for the study.
Systemic Capillary Leak Syndrome
|Study Design:||Time Perspective: Prospective|
|Official Title:||Studies in the Pathogenesis of Systemic Capillary Leak Syndrome|
|Study Start Date:||July 2009|
The systemic capillary leak syndrome (SCLS, Clarkson syndrome) is an exceedingly rare disorder of unknown cause characterized by chronic edema or acute transient, severe episodes of hypotension, hypovolemia, and oliguria. Severe edema results from leakage of fluid and macromolecules (200-900 kDa) into tissues. Acute SCLS episodes carry a high morbidity and mortality (25-30%). Only 150 cases have been reported worldwide since 1960, although the disease may be underdiagnosed due to the nonspecific nature of the presenting signs and symptoms and the considerable overlap with other shock syndromes including sepsis, anaphylaxis, and angioedema. Approximately 85% of such individuals have a monoclonal gammopathy of unknown significance (MGUS), but the relationship of this finding to disease pathogenesis is unclear. This protocol will focus on the pathogenesis of SCLS. Subjects with documented episodes of capillary leak will be evaluated in order to correlate both clinical and laboratory features that are typical of SCLS. The goal is to identify biological factors and/or genetic and molecular events that may predispose to SCLS episodes. We plan to enroll up to 210 subjects, family members and healthy volunteers in this study. We anticipate that our findings may be a first step toward the development of new targeted therapies.
|Contact: Laura Wisch, R.N.||(301) firstname.lastname@example.org|
|Contact: Kirk M Druey, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Kirk M Druey, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|