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Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

NCT02000310 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2021-02-23

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • O & O Alpan LLC

    lead OTHER

Principal Investigators

  • Ozlem Goker-Alpan, MD · Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

  • Renuka Limgala, PhD · LDRTC

Eligibility

Min Age
1 Day
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2013-11-30
Primary Completion
2021-12-31
Completion
2022-12-31

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02000310 on ClinicalTrials.gov