Screening of Lysosomal Storage Disorders Diseases in Minority Groups

NCT03812042 | Unknown

• 1 other identifier: 16-LDRTC-04
• Study Type: observational
• Target: 100,000
• Locations: 1 country
• Sites: 1

Brief Summary

Aim is to undertake a screening study that identifies undiagnosed patients with LSDs and determine the prevalence of these diseases with special focus on underrepresented minority groups.

Conditions

Lysosomal Storage Diseases

Keywords

Gaucher disease; Fabry disease; Pompe disease; Gangliosidoses

Outcome Measures

Primary Outcomes (2)

• Enzyme activity analysis to identify subjects with Lysosomal storage disorders

  To identify patients with LSDs using enzymatic activity specific to individual lysosomal storage disorders using left-over blood of blood samples collected as part of standard clinical care.

  5 years

• Genotypic analysis of subjects with abnormal enzyme activity

  Samples from subjects with abnormally low enzyme activity will be used for targeted sequencing analysis to diagnose any pathologic mutations.

  5 years

Study Arms (1)

Screen population

The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area including but not limited to hospitals, clinics, and doctor's offices.

Diagnostic Test: Enzyme assay and molecular sequencing

Interventions

Enzyme assay and molecular sequencing DIAGNOSTIC_TEST

Enzyme assay and molecular sequencing on relevant samples conducted from left over blood samples

Screen population

Eligibility Criteria

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

Study Population

The study population will comprise of patients of healthcare institutions in the Washington, D.C. and Richmond, Virginia areas including but not limited to hospitals, clinics, and doctor's offices.

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
• Subject is managed by a physician in the Washington, D.C and Richmond, VA metro area
• Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run

You may not qualify if:

• Absolute contraindication for blood drawing
• Subject cannot be traced back by the referring physician upon a positive screening result

Sponsors & Collaborators

• Lysosomal and Rare Disorders Research and Treatment Center, Inc.: lead

Study Sites (1)

LDRTC

Fairfax, Virginia, 22030, United States

Location

Related Links

• Institute website for more details

MeSH Terms

Conditions

Lysosomal Storage Diseases; Gaucher Disease; Fabry Disease; Glycogen Storage Disease Type II; Gangliosidoses

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

Study Officials

• Renuka Limgala, PhD

  LDRTC

  PRINCIPAL INVESTIGATOR

• Margarita M Ivanova, PhD

  LDRTC

  PRINCIPAL INVESTIGATOR

• Ozlem Goker-Alpan, MD

  LDRTC

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2019
• First Posted: January 22, 2019
• Study Start: March 17, 2016
• Primary Completion: December 1, 2019
• Study Completion: December 1, 2019
• Last Updated: January 22, 2019

Record last verified: 2019-01

Locations

US (1)