NCT02000310|Unknown
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
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Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Sponsor study identifier
observational
80
1 country
1
Study Start
November 2013
Actual (reported)Primary Completion
December 2021
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
December 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
November 2013
Actual (reported)November 25, 2013
Actual (reported)December 4, 2013
Actual (reported)December 2021
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
December 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Correlating genetic mutations with clinical signs and symptoms
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.
5 years
Associated Immune Pathophysiology
5 years
Patients or suspected carriers of a lysosomal storage disorders.
Lysosomal and Rare Disorders Research and Treatment Center, Inc (LDRTC)
Fairfax, Virginia, 22030, United States
Ozlem Goker-Alpan, MD
Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)
Renuka Limgala, PhD
LDRTC
First Submitted
November 25, 2013
First Posted
December 4, 2013
Study Start
November 2013
Actual (reported)Primary Completion
December 2021
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Contact the study team to confirm eligibility.
Study Completion
December 2022
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
February 23, 2021
Record last verified: 2021-02
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Source: ClinicalTrials.gov.
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