This site became the new on June 19th. Learn more.
Show more Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more... Menu
Give us feedback
Trial record 11 of 11 for:    Recruiting, Not yet recruiting, Available Studies | "Niemann-Pick Diseases"

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

This study is currently recruiting participants.
See Contacts and Locations
Verified September 2016 by O & O Alpan LLC
Information provided by (Responsible Party):
O & O Alpan LLC Identifier:
First received: November 25, 2013
Last updated: September 27, 2016
Last verified: September 2016
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.

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 ]
    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 ]
    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: 80
Study Start Date: November 2013
Estimated Study Completion Date: March 2018
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
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
  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 identifier: 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
  More Information

Responsible Party: O & O Alpan LLC Identifier: NCT02000310     History of Changes
Other Study ID Numbers: 13-CFCT-07
Study First Received: November 25, 2013
Last Updated: September 27, 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 processed this record on September 21, 2017