NCT01019629

Brief Summary

To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population

Trial Health

87
On Track

Trial Health Score

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

Enrollment
2,724

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jan 2009

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

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

January 29, 2009

Completed
10 months until next milestone

First Submitted

Initial submission to the registry

November 23, 2009

Completed
2 days until next milestone

First Posted

Study publicly available on registry

November 25, 2009

Completed
3.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 17, 2013

Completed
4.6 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 7, 2017

Completed
Last Updated

February 13, 2018

Status Verified

February 1, 2018

Enrollment Period

4.2 years

First QC Date

November 23, 2009

Last Update Submit

February 12, 2018

Conditions

Fabry Disease

Keywords

Fabry, Fabry Disease, Alpha-galactosidase A deficiency, GLA gene, mutations

Outcome Measures

Primary Outcomes (1)

  • Identify GLA gene variants

    Collect blood and urine sample one time only for analysis

    Once

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with any type of cardiac diagnosis

You may qualify if:

  • Any diagnosis of heart disease.
  • Male or Female
  • Able to donate 12 cc of whole blood and 10 cc of urine

You may not qualify if:

  • No diagnosis of cardiac disease.
  • Unable to donate 12 cc of whole blood and/or 10 cc of urine

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Baylor Institute of Metabolic Disease

Dallas, Texas, 75226, United States

Location

Related Publications (1)

  • Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

    PMID: 24496231DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood and Urine

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Raphael Schiffmann, M.D., M.H.Sc.

    Baylor Health Care System

    PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

First Submitted

November 23, 2009

First Posted

November 25, 2009

Study Start

January 29, 2009

Primary Completion

April 17, 2013

Study Completion

December 7, 2017

Last Updated

February 13, 2018

Record last verified: 2018-02

Locations

US(1)