Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Public ClinicalTrials.gov record NCT02000310. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT02000310
- Recruitment status
- Not listed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 80 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 1 Day to 100 Years
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Oct 31, 2013
- Primary completion
- Nov 30, 2021
- Completion
- Nov 30, 2022
- Last update posted
- Feb 22, 2021
2013 – 2022
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Lysosomal and Rare Disorders Research and Treatment Center, Inc (LDRTC) | Fairfax | Virginia | 22030 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT02000310, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Feb 22, 2021 · Synced Sep 12, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02000310 live on ClinicalTrials.gov.