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Protocol Details

Pathogenesis and Genetic Basis of Physical Induced Urticarial Syndromes

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

09-I-0126

Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2
Max Age: 90

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Physical Urticaria;
Pathogenesis;
Inflammasome;
IL-1;
Mast Cell

Recruitment Keyword(s)

Urticaria

Condition(s)

Autoinflammatory Syndromes;
Physical Urticaria

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Allergy and Infectious Diseases

Background:

- Urticaria is a common itchy skin disorder that may occur spontaneously or on exposure to a physical trigger (called physical urticaria).

- Researchers are studying the genetic basis of a physically induced urticarial syndrome. Once called familial cold urticaria, this condition is now called familial cold autoinflammatory syndrome (FCAS). FCAS is an autoinflammatory disease, a group of inherited disorders characterized by unprovoked episodes of inflammation. Patients with FCAS often have hives, joint pain, and fever following general exposure to cold.

- Patients with FCAS have a mutation in a gene that makes a protein called cryopyrin. Cryopyrin seems to be involved with the production of a proinflammatory mediator called interleukin-1 (IL-1). Patients with FCAS and others with autoinflammatory syndromes have benefited from medication that blocks the effects of IL-1.

Objectives:

- To investigate mechanisms that may cause physical hives or urticaria.

- To reproduce urticaria through challenge testing (procedures to test the skin for a reaction to a stimulus), followed by mast cell studies, measurement of IL-1, genetic studies, and other molecular studies to lead to a better understanding of urticaria and to design safe and more effective treatments.

Eligibility:

- Patients between 6 months and 65 years of age with a documented history of clinically reproducible physical urticaria that triggers hives and that has been evaluated by a physician. Patients should have a letter of referral, including copies of pertinent medical history and laboratory studies, from a referring physician.

- Affected and nonaffected family members of such patients.

- Exclusion criteria include (1) the presence of conditions that may put the subject at undue risk, such as acute infection, severe thrombocytopenia (a lower than normal number of platelets in the blood), or significant cardiovascular disease; (2) any condition that would make the subject unsuitable for enrollment in this study; and (3) a history of HIV, other known immunodeficiency, or evidence of chronic Hepatitis B and/or C infection.

Design:

- Researchers will conduct the following tests to verify which triggers cause the hives:

---- History and physical exam to determine the relationship between the trigger and appearance of the hives.

---- Blood samples for baseline screening (additional samples may be taken within 8 hours of triggering hives).

---- Verification of hives using standard challenge testing.

- Procedures to trigger urticaria (the challenge testing) include dermatographism (stroking the skin), delayed pressure urticaria (direct pressure), cold-induced urticaria (cold exposure), cholinergic urticaria (exercise, hot water), solar urticaria (sun exposure), localized heat urticaria (direct heat exposure), aquagenic urticaria (room temperature water), and vibratory angioedema (direct vibratory stimulus exposure).

- Participants who have a positive history for hives and failed challenge testing (that is, hives resulted from the triggers) will be asked to provide a skin biopsy and additional bloods samples for research purposes.

- Participants will be asked to return to the clinic within 1 month if multiple triggers could not be verified during the initial visit, or to return for additional research evaluations, which may include a skin punch biopsy and blood sample collection. Patients may have to stay at the hospital overnight, if required to document the disease.

- Nonaffected family members who enroll in this protocol will provide samples for comparison with the family member who has a history of hives.

- Participants will receive a small financial compensation for the skin biopsy.

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Eligibility

INCLUSION CRITERIA:

Affected subjects/guardian must:

1. Be at least 2 years of age and no older than 90 years of age.

2. Have a history of a physical urticaria, which has been evaluated by the patient's healthcare practitioner.

3. Provide copies of pertinent medical history and laboratory studies.

4. Have a health care provider outside of NIH.

5. Be willing to give informed consent.

6. Be willing to donate blood for sample storage to be used for future research.

Non-affected relatives/guardian must:

1. Be at least 2 years of age and no older than 90 years of age.

2. Have a relative who is enrolled on this protocol and is known to have documented history of a physical urticaria.

3. Not have a history of physical urticaria.

4. Be willing to give informed consent.

5. Be willing to donate blood for sample storage to be used for future research.

Normal volunteers must:

1. Be 18-65 years of age.

2. Be non-atopic (not have a history of allergic rhinitis, asthma, atopic dermatitis) per subject s medical history.

3. Have the ability to give informed consent.

4. Be willing to donate blood for sample storage to be used for future research.

5. Not have a history of physical urticaria.

EXCLUSION CRITERIA:

The following criteria apply to all subjects:

1. Presence of conditions which, in the judgment of the investigator or the referring physician, may put the subject at undue risk, such as acute infection, severe thrombocytopenia (minimum platelet count of 30,000), or significant cardiovascular disease

2. Any condition that in the view of the principal investigator (PI) would make the subject unsuitable for enrollment in this study

3. History of HIV or other known immunodeficiency

4. History or evidence of chronic Hepatitis B and/or C infection

5. Pregnancy


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Citations:

Meyer J, Gorbach AM, Liu WM, Medic N, Young M, Nelson C, Arceo S, Desai A, Metcalfe DD, Komarow HD. Mast cell dependent vascular changes associated with an acute response to cold immersion in primary contact urticaria. PLoS One. 2013;8(2):e56773. doi: 10.1371/journal.pone.0056773. Epub 2013 Feb 22.

Lyons JJ, Sun G, Stone KD, Nelson C, Wisch L, O'Brien M, Jones N, Lindsley A, Komarow HD, Bai Y, Scott LM, Cantave D, Maric I, Abonia JP, Rothenberg ME, Schwartz LB, Milner JD, Wilson TM. Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol. 2014 May;133(5):1471-4. doi: 10.1016/j.jaci.2013.11.039. Epub 2014 Jan 25.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Hirsh D. Komarow, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
BG 10 RM 1C129A1
10 CENTER DR
BETHESDA MD 20814
(301) 594-2197
komarowh@mail.nih.gov

Hye Jeong C. Bolan, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health
Building 15B1
Room 200
8 West Dr
Bethesda, Maryland 20892
(301) 594-1233
bolanhy@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00887939

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