Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 1/27/2019 |
| Start Date: | November 2013 |
| End Date: | March 2020 |
| Contact: | Ozlem Goker-Alpan, MD |
| Email: | ogoker-alpan@ldrtc.org |
| Phone: | 571-308-1904 |
Investigation of 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.
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.
Inclusion Criteria:
- Subject is greater than or equal to 1 day of age and less than or equal to 100 years
of age
- Signed Informed Consent/Assent
- Subject is able and willing to comply with study protocol requirements.
- From clinical or blood laboratory findings subject has evidence of a lysosomal storage
disease or a family member of a patient with lysosomal storage disease
Exclusion Criteria:
- Pregnant woman
We found this trial at
1
site
Fairfax, Virginia 22030
Principal Investigator: Ozlem Goker-Alpan, MD
Phone: 571-308-1900
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