Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

NCT02000310 | Unknown

• 1 other identifier: 13-CFCT-07
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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.

Conditions

Lysosomal Storage Disorders

Keywords

Gaucher disease; Fabry disease; Pompe disease; Niemann-Pick disease

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Associated Immune Pathophysiology

  5 years

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients or suspected carriers of a lysosomal storage disorders.

You may qualify if:

• 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

You may not qualify if:

• Pregnant woman

Sponsors & Collaborators

• O & O Alpan LLC: lead

Study Sites (1)

Lysosomal and Rare Disorders Research and Treatment Center, Inc (LDRTC)

Fairfax, Virginia, 22030, United States

RECRUITING

MeSH Terms

Conditions

Lysosomal Storage Diseases; Gaucher Disease; Fabry Disease; Glycogen Storage Disease Type II; Niemann-Pick Diseases

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Ozlem Goker-Alpan, MD

  Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)

  PRINCIPAL INVESTIGATOR

• Renuka Limgala, PhD

  LDRTC

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ozlem Goker-Alpan, MD

CONTACT

571-308-1904; ogoker-alpan@ldrtc.org

Renuka Limgala, PhD

CONTACT

703-261-6220; rlimgala@ldrtc.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 25, 2013
• First Posted: December 4, 2013
• Study Start: November 1, 2013
• Primary Completion: December 1, 2021
• Study Completion: December 1, 2022
• Last Updated: February 23, 2021

Record last verified: 2021-02

Locations

US (1)