NCT02120235

Brief Summary

Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
20,000

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Feb 2014

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2014

Completed
3 months until next milestone

First Submitted

Initial submission to the registry

April 17, 2014

Completed
5 days until next milestone

First Posted

Study publicly available on registry

April 22, 2014

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2018

Completed
10 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2018

Completed
Last Updated

April 4, 2017

Status Verified

April 1, 2017

Enrollment Period

4 years

First QC Date

April 17, 2014

Last Update Submit

April 3, 2017

Conditions

Lysosomal Storage DisordersGaucher DiseaseFabry DiseasePompe DiseaseNiemann-Pick Disease

Keywords

Lysosomal storage disordersLSDGaucher diseaseFabry diseasePompe diseaseNiemann-Pick disease

Outcome Measures

Primary Outcomes (1)

  • Number of patients identified with lysosomal storage disorders

    2 years

Eligibility Criteria

Age1 Day - 100 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .

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 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

O&O Alpan, LLC

Fairfax, Virginia, 22030, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Lysosomal Storage DiseasesGaucher DiseaseFabry DiseaseGlycogen Storage Disease Type IINiemann-Pick Diseases

Condition Hierarchy (Ancestors)

Metabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesSphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesLipidosesLipid Metabolism, Inborn ErrorsLipid Metabolism DisordersCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGlycogen Storage DiseaseCarbohydrate Metabolism, Inborn ErrorsHistiocytosis, Non-Langerhans-CellHistiocytosisLymphatic DiseasesHemic and Lymphatic Diseases

Central Study Contacts

Ozlem Goker-Alpan, M.D.

CONTACT

571-308-1900ogokeralpan@oandoalpan.com

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 17, 2014

First Posted

April 22, 2014

Study Start

February 1, 2014

Primary Completion

February 1, 2018

Study Completion

December 1, 2018

Last Updated

April 4, 2017

Record last verified: 2017-04

Locations

US(1)