Male Hormones for Telomere Related Diseases

11-H-RTC-0002

Decrease in blood cell counts due to deficient bone marrow function, called bone marrow failure, as well as some lung diseases, called idiopathic pulmonary fibrosis, can be caused by genetic defects in telomere biology genes, eventually causing telomere erosion. These disorders are collectively termed "telomeropathies". There is evidence that male hormones may improve blood cell counts in marrow failure, and these hormones are able to stimulate telomerase function in hematopoietic cells in vitro. We propose this study to the use of male hormone in patients with aplastic anemia and pulmonary fibrosis associated with defects in telomeres.

2014-02-01

2017-02-01

2017-02-01

Completed

Early phase I

20

Inclusion Criteria: * Peripheral blood leukocytes telomeres short for age, below the first percentile of a curve based on 500 healthy individuals between 0 and 100 years, with or without a telomerase gene mutation. AND * One or more of the following cytopenias: Anemia (symptoms of anemia with hemoglobin \<9.5 g/dL, or need for transfusion \> 2 units of packed red blood cells/month for at least two months, or absolute reticulocytes count \<60.000/μL). Thrombocytopenia (platelets counts \<30.000/μL or \<50.000/μL associated with bleeding, or megakaryocytes reduction in the bone marrow). Neutropenia (absolute neutrophil counts \<1.000/μL). OR * Idiopathic pulmonary fibrosis diagnosed according to the American Thoracic Society (ATS) criteria. Exclusion Criteria: * Terminal disease or liver disease, renal, cardiac, neurological, infectious or concomitant metabolic state whose gravity prevents the ability of the patient to tolerate the treatment protocol, or probable death within 30 days. * People with cancer who are undergoing chemotherapy. * Pregnancy, or desire to not prevent pregnancy in childbearing age. * Aplastic Anemia patients with indication for bone marrow transplantation and matched donor.

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2023-08-31