Ignite Creation Date:
2025-12-18 @ 8:22 AM
Ignite Modification Date:
2025-12-18 @ 8:22 AM
Study NCT ID:
NCT02156115
Status:
None
Last Update Posted:
2024-04-11 00:00:00
First Post:
2014-06-04 00:00:00
Is Possible Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
Sponsor:
None
Organization:
Study Overview
Official Title:
Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders
Status:
None
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Study closed before total enrollment met.
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Disorders of lymphatic function are associated with multiple presentations, the most common of which is lymphedema, a chronic swelling of the extremities, due to impaired lymphatic drainage. It can cause disability and a predisposition to infection and chronic ulceration. Other lymphatic disorders present with visceral manifestations such as regional or systemic lymphangiomatosis, pulmonary and intestinal lymphangiectasia, protein-losing enteropathy, chylous ascites, and chylothorax. Abnormalities of smooth muscle cell proliferation are associated with lymphangiomatosis. Proliferation of a neoplastic cell, the LAM cell, which exhibits a smooth muscle cell phenotype, is associated with lymphangioleiomyomatosis. Currently, treatment for many of these disorders is symptomatic and the prognosis is variable.
The molecular mechanisms of lymphatic vasculogenesis are incompletely understood, but critical genes have been described, and mutations in these genes may lead to developmental abnormalities. There may be a genetic predisposition to lymphatic disorders, with a role for modifier genes in disease progression. The purpose of this study is to (a) define the natural history of lymphatic diseases, (b) characterize the clinical phenotypes, and (c) elucidate their pathogenesis at the physiological, cellular and molecular levels. This protocol is part of a Trans-Institute basic, translational and clinical initiative in lymphatic disorders and will include participation of principal investigators across the NIH, as well as extramural investigators.
The molecular mechanisms of lymphatic vasculogenesis are incompletely understood, but critical genes have been described, and mutations in these genes may lead to developmental abnormalities. There may be a genetic predisposition to lymphatic disorders, with a role for modifier genes in disease progression. The purpose of this study is to (a) define the natural history of lymphatic diseases, (b) characterize the clinical phenotypes, and (c) elucidate their pathogenesis at the physiological, cellular and molecular levels. This protocol is part of a Trans-Institute basic, translational and clinical initiative in lymphatic disorders and will include participation of principal investigators across the NIH, as well as extramural investigators.
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: