Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes. These defects lead to conditions known as lysosomal storage diseases (LSD). LSDs are caused by inherited genetic mutations and there are over 40 genetically distinct lysosomal storage diseases. Within each specific lysosomal storage disease there are variances in severity of disease, age of onset, and clinical presentation. Though the genetic mutations contributing to the disease have been largely clarified, the molecular and cellular mechanisms that contribute to variations in each distinct LSD remain unclear. With this study we intend to better understand at the cellular and molecular level how the accumulation and storage of metabolic wastes in the lysosome affect the clinical manifestation of LSDs, to detect changes in these mechanisms upon treatment administration, and to correlate these results to genetic information. The knowledge obtained from this research study could lead to better ways to diagnose and treat lysosomal storage diseases.
Lysosomal Storage Disorders
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases|
- Correlating genetic mutations with clinical signs and symptoms [ Time Frame: 5 years ] [ Designated as safety issue: No ]Genetic information (DNA) will be collected from biological samples (e.g. blood, skin cells) and correlated with clinical signs and symptoms. DNA will be sequenced in order to identify a specific mutation. Fluorescence assay will be performed to measure the enzyme activity of the affected protein. Physical examination will be performed, and supporting test results will be collected for identifying the signs and symptoms of the particular disorder.
- Associated Immune Pathophysiology [ Time Frame: 5 years ] [ Designated as safety issue: No ]Blood will be collected for identifying alterations in the innate and adaptive immune system. Flow cytometry will be used to analyze cell surface and intracellular biomarkers on immune cells such as B-cells, T-cells, eosinophils.
|Study Start Date:||November 2013|
|Estimated Study Completion Date:||March 2018|
|Estimated Primary Completion Date:||December 2017 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02000310
|Contact: Ozlem Goker-Alpan, MDfirstname.lastname@example.org|
|Contact: O&O Alpan, LLC||571-308-1900|
|United States, Virginia|
|O&O Alpan, LLC||Recruiting|
|Fairfax, Virginia, United States, 22030|
|Contact: Sheila Mwau, BS 571-308-1912 email@example.com|
|Contact: Chidima Ioanou, MS 571-308-1905 firstname.lastname@example.org|
|Principal Investigator: Ozlem Goker-Alpan, MD|
|Principal Investigator:||Ozlem Goker-Alpan, MD||O & O Alpan LLC|