Study of the Disease Process of Lymphangioleiomyomatosis

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Brief Title

Study of the Disease Process of Lymphangioleiomyomatosis

Official Title

Characterization of the Pathogenesis of Lymphangioleiomyomatosis (LAM)

Brief Summary

      Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting
      women of childbearing age. Currently, there is no effective therapy for the disease and the
      prognosis is poor.

      This study is designed to determine the disease processes involved at the level of cells and
      molecules, in order to develop more effective therapy.

      Researchers intend to identify the proteins and genes that contribute to the process of lung
      destruction in affected individuals.

      ...
    

Detailed Description

      Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease.
      Most of them are females of childbearing age. Currently, there is no proven effective therapy
      and the prognosis is variable. This study is designed to (a) define the clinical course of
      the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular
      levels, in order to develop more effective therapy. To accomplish this, we intend to identify
      the proteins and genes that contribute to the process of lung destruction in affected
      individuals.
    


Study Type

Observational


Primary Outcome

Define the clinical course of the disease LAM and elucidate the pathogenesis of LAM at cellular and molecular levels


Condition

Lung Disease


Study Arms / Comparison Groups

 LAM patients
Description:  Patients with tissue diagnosis of LAM may be admitted for evaluation every six months, or as deemed necessary for research.

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

2000

Start Date

December 18, 1995



Eligibility Criteria

        -  INCLUSION CRITERIA:

        General admission criteria for patients include one or both of the following:

        Findings on lung biopsy diagnostic of LAM;

        Findings on chest x-ray and/or chest computed axial tomography consistent with LAM.

        Patients with TSC and pulmonary LAM will be included in the study.

        Normal non-smokers in the control group are defined as individuals who have not smoked for
        greater than or equal to 1 year and have no systemic or pulmonary disease.

        Normal smokers defined as individuals with no systemic or pulmonary disease, who have
        smoked for greater than or equal to 1 year and have normal chest x-ray and normal pulmonary
        function tests may be included if needed as controls for a similar population of patients
        with LAM.

        Pregnant and or nursing women can be included in accordance with Federal Regulations at
        Subpart B of 45 CFR 46 Subjects who are pregnant and or nursing will be excluded from
        procedures during their pregnancy that are greater than minimal risk, until they are no
        longer pregnant and/or nursing. Procedures that will not be completed while the subject is
        pregnant and/or nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy,
        and measurements with imaging modalities requiring contrast or with radiation exposure such
        as Chest x-ray, CT scan, MRI, bone densitometry (DEXA). Allowing subjects to be included in
        the study may glean important information about individuals with uncommon pulmonary disease
        during and post pregnancy.

        EXCLUSION CRITERIA:

        Exclusion criteria for patients include:

        Age less than 16.

        Advanced stage of a pulmonary or a systemic illness in which the risk of the study is
        judged to be significant even in the absence of a clear contraindication to the procedures.

        Exclusion criteria for patients for the formal exercise study and the stress echocardiogram
        include patients on continuous oxygen. Patients may perform an exercise test that will
        assess the patient's exercise capacity with activities of daily living.
      

Gender

All

Ages

16 Years - 99 Years

Accepts Healthy Volunteers

No

Contacts

Joel Moss, M.D., (301) 496-1597, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00001465

Organization ID

950186

Secondary IDs

95-H-0186

Responsible Party

Sponsor

Study Sponsor

National Heart, Lung, and Blood Institute (NHLBI)


Study Sponsor

Joel Moss, M.D., Principal Investigator, National Heart, Lung, and Blood Institute (NHLBI)


Verification Date

June 9, 2021