Natural History of Diseases Associated With Allergic Inflammation: Atopic Dermatitis and Genetic and Congenital Diseases Associated With Atopic Pathways

Brief Title

Natural History of Severe Allergic Inflammation and Reactions

Official Title

Natural History of Severe Allergic Inflammation and Reactions

Brief Summary

      Background:

      - Allergic inflammation is central to allergy-related diseases and disorders, such as asthma,
      food allergies, and atopic dermatitis. Atopic dermatitis, commonly called eczema is a
      chronic, noncontagious skin condition, usually starting in the first years of life, which
      causes itching and scaling of an individual s skin. Because atopic dermatitis is a common
      condition in children who have allergy-related diseases, including asthma, researchers are
      interested in studying both individuals with atopic dermatitis and their close relatives
      (parents and children) to better understand how allergy-related diseases develop and
      progress. In addition, some patients with inherited disorders with features including atopic
      dermatitis or other aspects of allergy such as food allergy, asthma, hay fever, hives, and
      others, will also be seen.

      Objectives:

      - To study the natural history of diseases of allergic inflammation, such as atopic
      dermatitis or genetic disorders associated with allergic inflammation.

      Eligibility:

        -  Children and adolescents between 1 month and 21 years of age who have a documented
           history of moderate to severe atopic dermatitis.

        -  Individuals between 1 month and 80 years of age who have a suspected genetic or
           inherited allergy disorder related to atopic dermatitis or allergic pathways.

        -  Child and adult relatives of eligible participants will also be studied on this
           protocol.

      Design:

        -  The study will require one initial visit to the National Institutes of Health Clinical
           Center (lasting 1-5 days), as well as any required follow-up visits for treatment and
           research studies. Participants will receive treatment for atopic dermatitis and other
           allergic diseases as part of the study for up to 1 year.

        -  Participants will have some or all of the following tests as part of this study:

        -  A detailed physical examination and medical history

        -  Allergy skin prick testing to examine participants' responses to different allergens.

        -  Blood samples for additional allergen testing, testing the immune system, and other
           research purposes

        -  Skin punch biopsy to take a skin sample

        -  Lung function tests to measure airflow from the lungs and inflammation

        -  Food-related tests to diagnose potential food allergies

        -  Leukapheresis to collect white blood cells only

        -  Research samples, including stool specimens, saliva samples, buccal swabs (to collect
           cells from the inside of the cheek), and skin cell samples

        -  Clinical digital photography to provide images of affected and healthy skin.

        -  Participants will be asked to return for follow-up visits and tests for up to 1 year
           after the initial visit(s).
    

Detailed Description

      Allergic inflammation is central to the pathogenesis of allergic diseases, including atopic
      dermatitis, asthma, allergic rhinitis, and food allergy. These disorders are common,
      affecting up to 50 million Americans, and their pathophysiology remains poorly understood.
      Among allergic diseases, atopic dermatitis is common, with a prevalence of up to 20% in
      children. It is associated with the most dramatic elevations of IgE levels and most prominent
      T-helper type 2 cell (Th2) inflammation, and treatment remains challenging. Atopic
      dermatitis, eosinophilic inflammation, and systemic immediate hypersensitivity reactions are
      heralding manifestation of allergic disease in many children, making these ideal disorders
      for studying the effector mechanisms promoting the development and progression of allergic
      diseases. In addition to these manifestations, there are also a number of characterized
      genetic and congenital diseases, most presenting in childhood, that have prominent allergic
      manifestations, including dermatitis, or affect atopic pathways. These disorders provide
      further opportunity for advancing our understanding of the genetics and pathophysiology of
      diseases of allergic inflammation. The NIAID Laboratory of Allergic Diseases (LAD) has a long
      interest in exploring the mechanisms of allergic inflammation. Utilizing the resources of the
      LAD and the NIH Clinical Center, we will advance our understanding of allergic inflammation
      and the genetics and pathogenesis of allergic diseases through the study of these patients.
      The findings of this protocol will have implications for improved diagnosis, treatment and
      prevention of allergic diseases, including atopic asthma
    


Study Type

Observational


Primary Outcome

SCORAD


Condition

PGM3 Deficiency


Study Arms / Comparison Groups

 1
Description:  Eczema

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

2150

Start Date

July 12, 2010



Eligibility Criteria

        -  INCLUSION CRITERIA:

          -  Subject or unaffected relatives must:

               1. Be at least 2 years of age and less than or equal to 21 years of age at the time
                  of enrollment and have documented history of severe allergic inflammation or
                  hypersensitivity, that began in the first 5 years of life, that is moderate to
                  severe, and with continued inflammation or

                  recurrent flares in the preceding 3 months. Patients greater than 21 years of age
                  with a history of disease in the first 5 years of life and/or, if in the opinion
                  of the PI or AIs, the patient would be of interest to fulfill the objectives of
                  the study.

                  OR

               2. Be 2-80 years of age with a known or suspected genetic or congenital disorder
                  associated with severe allergic inflammation or

                  hypersensitivity, as determined by the PI or AIs.

                  OR

               3. Be an a relative of a patient enrolled in the protocol.

          -  Have a private physician to provide local continuity of care.

          -  Provide a letter of referral, with copies of pertinent medical history and laboratory
             studies as indicated, from the prospective study participant s referring physician;
             this is not a requirement for healthy relatives.

          -  Be willing to donate blood, buccal swabs, saliva, skin and nasal swabs for research
             and clinical studies and for storage to be used for future research and genetic
             testing; for unaffected relatives, be willing to donate blood and/or undergo allergy
             skin testing, in addition to having blood samples stored for future research and
             genetic testing.

          -  Pregnant women or women who become pregnant are eligible to participate or continue
             participation on the study.

        Healthy Volunteer must:

          -  Be at least 18 years old and no greater than 80 years old, and able to provide
             informed consent.

             2. Have no history of severe or recurrent allergic diseases or reactions.

          -  Be willing to have samples stored for research and genetic testing.

        EXCLUSION CRITERIA:

        Any subject with any of the following criteria will be excluded:

          -  Presence of conditions that, in the judgment of the investigator or the referring
             physician, may put the subject at undue risk or make them unsuitable for participation
             in the study.

          -  Inability or refusal to undergo study procedures.

          -  Inability to participate for the duration of the study.

        Any unaffected relative or healthy volunteer with any of the following criteria will be
        excluded:

          -  Presence of conditions that, in the judgment of the investigator or the referring
             physician, may put the subject at undue risk or make them unsuitable for participation
             in the study.

          -  Inability or refusal to undergo study procedures.

          -  Inability to provide informed consent.
      

Gender

All

Ages

2 Years - 80 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Jonathan J Lyons, M.D., (301) 259-7230, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01164241

Organization ID

100148

Secondary IDs

10-I-0148

Responsible Party

Sponsor

Study Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)


Study Sponsor

Jonathan J Lyons, M.D., Principal Investigator, National Institute of Allergy and Infectious Diseases (NIAID)


Verification Date

July 23, 2021