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Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
Sponsored by Lysosomal and Rare Disorders Research and Treatment Center, Inc.
NCT ID
NCT03812055
Target Enrollment
50 participants
Start Date
2018-07-06
Est. Completion
2020-07
About This Study
The purpose of this study is to evaluate the effect of small molecule therapy in primary cells derived from patients with lysosomal storage disease. The study will focus on activity of small molecules, in terms of measurements enzymes activity and level of substrates accumulations. Also, the effects of small molecules on cell function, including autophagy-lysosomal pathways, metabolism, mitochondrial function and immune reaction will be investigated.
Conditions Studied
Eligibility
Healthy Volunteers:Yes
View full eligibility criteria
Inclusion Criteria: Subjects with 1. confirmed diagnosis of any lysosomal storage disorder 2. family members with history of lysosomal storage disorders Exclusion Criteria: Subjects excluded from the study include those who: 1. present with severe cognitive deficits impairing decision making 2. are unable to or for whom it is medically unsafe to withdraw from their current medications, such as subjects on SSRI s and other psychoactive drugs. The subjects on SSRIs may be included in the study only with an approval from the prescribing physician to discontinue their medications temporarily for the study. 3. are pregnant or nursing. All women of child bearing potential will undergo a pregnancy test. 4. have a history of neurologic conditions such as stroke or any focal brain lesion that may result in parkinonian manifestations. Individuals with such MRI findings will be excluded from the study.
Study Locations (1)
LDRTC
Fairfax, Virginia, United States