Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Lysosomal Storage Disorders Clinical Trial

Official title:

Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02000310
• Other study ID #: 13-CFCT-07
• Status: Recruiting
• Start date: November 2013
• Est. completion date: December 2022

Study information

• Verified date: February 2021
• Source: O & O Alpan LLC
• Contact: Ozlem Goker-Alpan, MD
• Phone: 571-308-1904
• Email: ogoker-alpan[@]ldrtc.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 80
• Est. completion date: December 2022
• Est. primary completion date: December 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A to 100 Years

Eligibility

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

Related Conditions & MeSH terms

• Lysosomal Storage Diseases
• Lysosomal Storage Disorders

Locations

Country	Name	City	State
United States	Lysosomal and Rare Disorders Research and Treatment Center, Inc (LDRTC)	Fairfax	Virginia

Sponsors (1)

Lead Sponsor	Collaborator
O & O Alpan LLC

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Correlating genetic mutations with clinical signs and symptoms	Genetic information (DNA) will be collected from biological samples (e.g. blood, skin cells) and correlated with clinical signs and symptoms. DNA will be sequenced in order to identify a specific mutation. Fluorescence assay will be performed to measure the enzyme activity of the affected protein. Physical examination will be performed, and supporting test results will be collected for identifying the signs and symptoms of the particular disorder.	5 years
Secondary	Associated Immune Pathophysiology	Blood will be collected for identifying alterations in the innate and adaptive immune system. Flow cytometry will be used to analyze cell surface and intracellular biomarkers on immune cells such as B-cells, T-cells, eosinophils.	5 years