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Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma

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ClinicalTrials.gov Identifier: NCT02325505
Recruitment Status : Recruiting
First Posted : December 25, 2014
Last Update Posted : July 30, 2020
Sponsor:
Collaborator:
Novartis
Information provided by (Responsible Party):
Bruno Guedes Baldi, InCor Heart Institute

Brief Summary:
Tuberous Sclerosis Complex (TSC) is a multisystemic autosomal dominant disease that is characterized by the development of benign neoplasms in brain, kidney, lung, skin and heart. TSC is caused by mutations in TSC1 and/or TSC2 genes, which encode, respectively, hamartin and tuberin, that are involved in the regulation of cell proliferation, cell cycle and protein synthesis. Most patients exhibit dermatological, renal, neurological and pulmonary (lymphangioleiomyomatosis, LAM) manifestations. Neurological involvement include subependymal nodules, subependymal giant cell astrocytomas and cortical tubers. LAM is characterized by the proliferation of LAM cells around the airways, blood vessels and lymphatics, which result in vascular and airway obstruction and cyst formation. The most frequent TSC manifestation in the kidney is the development of angiomyolipomas (AML). Dermatologic lesions represent the most common manifestations of TSC, mainly hypomelanotic macules and facial angiofibromas. The most significant functional implication of the tuberin-hamartin complex is its regulatory role upon the mammalian target of rapamycin (mTOR) pathway. Mutations in TSC1 or TSC2 lead to increased mTOR activity and favor tumor development and growth. All lesions associated with TSC, sporadic LAM and sporadic AML share a common molecular pathogenesis, based on TSC1/TSC2 mutations and mTOR hyperactivity. Up to date, TSC patients have been followed in separated medical services in our institution, according to their predominant phenotype. The current knowledge, however, suggest that the ideal follow up of such patients should be conducted in an integrated fashion among the specialties associated with the main disease manifestations. Experts in TSC from each of these areas have recently created a TSC/LAM/AML integrated program in the University of São Paulo Medical Center, and his project will be initiated with the generation of an integrated TSC/LAM/AML registry, which intends not only to clinically characterize this patient population but also to document the employed treatment modalities. Once this first goal is achieved, clinical trials are planned to be performed. The central aim of this observational study is to clinically characterize the TSC/LAM/AML subject population followed and referred to the University of São Paulo Medical Center. Specific aims: To characterize the pulmonary, the neurological, the renal and the dermatologic phenotypes of this patient population.

Condition or disease
Tuberous Sclerosis Lymphangioleiomyomatosis Angiomyolipoma

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School
Study Start Date : April 2016
Estimated Primary Completion Date : April 2021
Estimated Study Completion Date : August 2021


Group/Cohort
Tuberous sclerosis complex
All patients with TSC, LAM or AML followed at Hospital das Clínicas, University of São Paulo Medical School will be included in the proposed study. Patients of all ages will participate in the study.



Primary Outcome Measures :
  1. Pulmonary function tests [ Time Frame: Baseline and change after one year ]
  2. Chest high resolution computed tomography findings [ Time Frame: Baseline and change after one year ]
  3. Findings on computed tomography of the brain [ Time Frame: Baseline and change after one year ]
  4. Abdominal computed tomography findings [ Time Frame: Baseline and change after one year ]
  5. Skin lesions [ Time Frame: Baseline and change after one year ]
    Describe skin lesions in the study population

  6. Respiratory symptoms Describe all respiratory symptoms in the study population) [ Time Frame: Baseline and change after one year ]
    Describe all respiratory symptoms in the study population

  7. Quality of life evaluation with the questionnaire Short-Form Health Survey - 36 (SF-36) [ Time Frame: Baseline and change after one year ]
  8. Urinary and abdominal complaints [ Time Frame: Baseline and change after one year ]
    Describe urinary and abdominal complaints in the study population

  9. Baseline dyspna index [ Time Frame: Baseline and change after one year ]
    Assessment of the degree of dyspnea using baseline dyspnea index

  10. Treatments performed (previous and current treatments performed) [ Time Frame: Baseline ]
    To describe previous and current treatments performed

  11. Neurological complaints [ Time Frame: Baseline and after one year ]
    Describe neurological complaints in the study population


Secondary Outcome Measures :
  1. Six-minute walking distance and dessaturation during six-minute walk test [ Time Frame: Baseline and change after one year ]
  2. Systolic pulmonary arterial pressure [ Time Frame: Baseline and after one year ]
    This valuable will be evaluated by transthoracic echocardiography

  3. Changes in electroencephalogram [ Time Frame: Baseline and after one year ]
  4. Loss of productivity and hospitalizations [ Time Frame: Baseline and after one year ]
  5. Histopathological characteristics of samples obtained from skin biopsy [ Time Frame: Baseline ]
    If there is a skin lesion, it might be biopsied and evaluated by a pathologist



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The population of this study is composed of patients with TSC, LAM (sporadic or associated with TSC) or AML (sporadic or associated with TSC or with LAM). The estimated sample size for this study is about 200 patients, all of them followed at University of Sao Paulo Medical School.
Criteria

Inclusion Criteria:

  • All patients with TSC, LAM (sporadic or associated with TSC) or AML (sporadic or associated with TSC or with LAM) followed at Hospital das Clínicas, University of São Paulo Medical School will be included in the proposed study. Patients of all ages will participate in the study.

Exclusion Criteria:

  • There is no exclusion criteria.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02325505


Contacts
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Contact: Bruno G Baldi, MD 551126615695 bruno.guedes2@terra.com.br
Contact: Carlos Roberto RibeiroCarvalho, MD, PhD 551126615695 crrcarvalho@uol.com.br

Locations
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Brazil
InCor Heart Institute Recruiting
Sao Paulo, Brazil, 05303900
Contact: Bruno G Baldi, MD    551126615695    bruno.guedes2@terra.com.br   
InCor Heart Institute Recruiting
Sao Paulo, Brazil, 05403900
Contact: Luciana Cassimiro, Coordinator    551126615109    luciana.cassimiro@incor.usp.br   
Contact: Kátia Sansivieri, Coordinator    551126615109    katia@incor.usp.br   
Principal Investigator: Carlos Roberto Ribeiro Carvalho, MD, PhD         
Principal Investigator: Bruno G Baldi, MD         
Sub-Investigator: Elieser Watanabe, MD         
Sub-Investigator: Maria Luiza Manreza, MD         
Sub-Investigator: José Roberto Colombo, MD         
Sub-Investigator: Zilda Najjar, MD, PhD         
Sub-Investigator: Luiz Fernando Onuchic, MD, PhD         
Sponsors and Collaborators
InCor Heart Institute
Novartis
Investigators
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Principal Investigator: Carlos Roberto Ribeiro Carvalho, MD, PhD InCor Heart Institute
Additional Information:

Publications:

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Responsible Party: Bruno Guedes Baldi, Medical Assistant, InCor Heart Institute
ClinicalTrials.gov Identifier: NCT02325505    
Other Study ID Numbers: 4147/14/127
First Posted: December 25, 2014    Key Record Dates
Last Update Posted: July 30, 2020
Last Verified: July 2020
Additional relevant MeSH terms:
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Lymphangiomyoma
Tuberous Sclerosis
Lymphangioleiomyomatosis
Angiomyolipoma
Sclerosis
Pathologic Processes
Hamartoma
Neoplasms
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Malformations of Cortical Development, Group I
Malformations of Cortical Development
Nervous System Malformations
Nervous System Diseases
Neurocutaneous Syndromes
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Lymphatic Vessel Tumors
Neoplasms by Histologic Type
Perivascular Epithelioid Cell Neoplasms
Neoplasms, Connective and Soft Tissue
Lymphoproliferative Disorders
Lymphatic Diseases
Immunoproliferative Disorders
Immune System Diseases
Neoplasms, Adipose Tissue