Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders
1 other identifier
observational
50
1 country
1
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, 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jul 2018
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 6, 2018
CompletedFirst Submitted
Initial submission to the registry
January 18, 2019
CompletedFirst Posted
Study publicly available on registry
January 22, 2019
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 1, 2020
CompletedStudy Completion
Last participant's last visit for all outcomes
July 1, 2020
CompletedJanuary 22, 2019
January 1, 2019
2 years
January 18, 2019
January 18, 2019
Conditions
Outcome Measures
Primary Outcomes (5)
Effect on enzyme activity
To evaluate the effect of small molecules on level of enzyme activity in primary cells derived from patients using fluorometric enzyme assays.
24 months
Effect on substrate accumulation
To evaluate the effect of small molecules on heparin sulfate accumulation and substrate accumulation in primary cells derived from patients using techniques like ELISA and mass spectrometry
24 months
Effect on autophagy-lysosomal pathway
To evaluate the effect of small molecules on autophagy-lysosomal functions in primary cells derived from patients using commercially available assays
24 months
Effect on mitochondrial functions
To evaluate the effect of small molecules on energy metabolism and mitochondrial functions in primary cells derived from patients using commercially available assay kits
24 months
Effect on immune and inflammatory response
Examine the immune and inflammatory response to treatment with small molecules using flow cytometry based immunophenotyping
24 months
Study Arms (2)
LSD
Subjects diagnosed or suspected to have any of the following lysosomal storage diseases: Gaucher disease, Fabry disease, Pompe disease, Mucopolysaccharidoses.
Control
Subjects with no known lysosomal storage disorder
Eligibility Criteria
Patients diagnosed or suspected of having a lysosomal storage disorder and family members of diagnosed patients will be recruited. Informed consent will be obtained prior to the execution of any research procedures.
You may qualify if:
- Subjects with
- confirmed diagnosis of any lysosomal storage disorder
- family members with history of lysosomal storage disorders
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
LDRTC
Fairfax, Virginia, 22030, United States
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Margarita M Ivanova, PhD
LDRTC
- PRINCIPAL INVESTIGATOR
Ozlem Goker-Alpan, MD
LDRTC
- PRINCIPAL INVESTIGATOR
Renuka Limgala, PhD
LDRTC
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 18, 2019
First Posted
January 22, 2019
Study Start
July 6, 2018
Primary Completion
July 1, 2020
Study Completion
July 1, 2020
Last Updated
January 22, 2019
Record last verified: 2019-01