Status:
UNKNOWN
Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
Lead Sponsor:
Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Conditions:
Lysosomal Storage Diseases
Eligibility:
All Genders
Brief Summary
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...
Detailed Description
Lysosomal storage diseases (LSD) often cause severe disability and have a devastating effect on quality of life. The current standard of care of a majority of LSD is enzyme replacement therapy (ERT). ...
Eligibility Criteria
Inclusion
- Subjects with
- confirmed diagnosis of any lysosomal storage disorder
- family members with history of lysosomal storage disorders
Exclusion
- Subjects excluded from the study include those who:
- present with severe cognitive deficits impairing decision making
- 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.
- are pregnant or nursing. All women of child bearing potential will undergo a pregnancy test.
- 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.
Key Trial Info
Start Date :
July 6 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2020
Estimated Enrollment :
50 Patients enrolled
Trial Details
Trial ID
NCT03812055
Start Date
July 6 2018
End Date
July 1 2020
Last Update
January 22 2019
Active Locations (1)
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1
LDRTC
Fairfax, Virginia, United States, 22030