Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02000310
Recruitment Status : Unknown
Verified September 2016 by O & O Alpan LLC.
Recruitment status was:  Recruiting
First Posted : December 4, 2013
Last Update Posted : September 28, 2016
Information provided by (Responsible Party):
O & O Alpan LLC

Brief 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.

Condition or disease
Lysosomal Storage Disorders

Study Type : Observational
Estimated Enrollment : 80 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Study Start Date : November 2013
Estimated Primary Completion Date : December 2017
Estimated Study Completion Date : March 2018

Primary Outcome Measures :
  1. Correlating genetic mutations with clinical signs and symptoms [ Time Frame: 5 years ]
    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.

Secondary Outcome Measures :
  1. Associated Immune Pathophysiology [ Time Frame: 5 years ]
    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.

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients or suspected carriers of a lysosomal storage disorders.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02000310

Contact: Ozlem Goker-Alpan, MD 571-308-1904
Contact: O&O Alpan, LLC 571-308-1900

United States, Virginia
O&O Alpan, LLC Recruiting
Fairfax, Virginia, United States, 22030
Contact: Ana Villagomez    571-308-1909   
Contact: Chidima Ioanou, MS    571-308-1905   
Principal Investigator: Ozlem Goker-Alpan, MD         
Sponsors and Collaborators
O & O Alpan LLC
Principal Investigator: Ozlem Goker-Alpan, MD O & O Alpan LLC

Responsible Party: O & O Alpan LLC Identifier: NCT02000310     History of Changes
Other Study ID Numbers: 13-CFCT-07
First Posted: December 4, 2013    Key Record Dates
Last Update Posted: September 28, 2016
Last Verified: September 2016

Keywords provided by O & O Alpan LLC:
Gaucher disease
Fabry disease
Pompe disease
Niemann-Pick disease

Additional relevant MeSH terms:
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases