Trial record 20 of 20 for:    Open Studies | "Gaucher Disease"

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2013 by O & O Alpan LLC
Sponsor:
Information provided by (Responsible Party):
O & O Alpan LLC
ClinicalTrials.gov Identifier:
NCT02000310
First received: November 25, 2013
Last updated: December 2, 2013
Last verified: December 2013
  Purpose

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
Lysosomal Storage Disorders

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Resource links provided by NLM:


Further study details as provided by O & O Alpan LLC:

Primary Outcome Measures:
  • Correlating genetic mutations with clinical signs and symptoms [ Time Frame: 5 years ] [ Designated as safety issue: No ]
    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:
  • Associated Immune Pathophysiology [ Time Frame: 5 years ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 30
Study Start Date: November 2013
Estimated Primary Completion Date: November 2015 (Final data collection date for primary outcome measure)
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients or suspected carriers of a lysosomal storage disorders.

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02000310

Contacts
Contact: Ozlem Goker-Alpan, MD 571-308-1904 ogokeralpan@oandoalpan.com
Contact: O&O Alpan, LLC 571-308-1900

Locations
United States, Virginia
O&O Alpan, LCL Recruiting
Fairfax, Virginia, United States, 22030
Contact: Edina Komlodi-Pasztor, MD, PhD    571-308-1918    ekomlodi-pasztor@oandoalpan.com   
Contact: Chidima Ioanou    571-308-1905    cmartin@oandoalpan.com   
Principal Investigator: Ozlem Goker-Alpan, MD         
Sponsors and Collaborators
O & O Alpan LLC
Investigators
Principal Investigator: Ozlem Goker-Alpan, MD O & O Alpan LLC
  More Information

No publications provided

Responsible Party: O & O Alpan LLC
ClinicalTrials.gov Identifier: NCT02000310     History of Changes
Other Study ID Numbers: 13-CFCT-07
Study First Received: November 25, 2013
Last Updated: December 2, 2013
Health Authority: United States: Institutional Review Board

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

ClinicalTrials.gov processed this record on September 18, 2014