Sophisticated Assessment of Disease Burden in Patients Wi... | NCT01210196

Studies
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease

NCT01210196

Sponsor

Shire

Status

Completed

Last Update Posted

Jun 3, 2021Actual

Enrollment

36Actual

Phase

Not provided

Conditions

Fabry Disease

Interventions

Countries

Belgium
Czechia
Denmark
Finland
Germany
Sweden

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 31, 2010Actual

Primary Completion Date

Sep 30, 2013Actual

Completion Date

Sep 30, 2013Actual

First Submitted Date

Sep 25, 2010

First Submission Date that Met QC Criteria

Sep 27, 2010

First Posted Date

Sep 28, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 1, 2021

Last Update Posted Date

Jun 3, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

To detect early signs of cardiac and metabolic alterations as well as to evaluate the progression of cardiac and metabolic impairments in mildly affected patients with Fabry Disease using high sensitive diagnostic methods.

Detailed Description

Observational Study Evaluating the use of cardiac MRI with late enhancement technique, Echocardiography, 24h Holter ECG, plasma Lyso-Gb3 and urinary Gb3, to identify early signs of progressive Fabry Disease.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

36Actual

Label	Type	Description	Intervention Names
mild affected Fabry patients			Procedure: MRI

Name	Type	Description	Arm Group Labels	Other Names
MRI	Procedure	Cardiac MRI after 12 and 24 months.	mild affected Fabry patients

Measure	Description	Time Frame
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months		24 months

Measure	Description	Time Frame
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI		24 months

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Women: A confirmed exonic mutation within the α-Galactosidase gene Men: A confirmed exonic mutation within the α-Galactosidas gene and/or reduced α- Galactosidase activity
Female patients ≥ 25 years-old and male patients ≥ 25 years-old
The patient has not received enzyme replacement therapy for treatment of Fabry disease
The patient must have voluntarily signed an Institutional Review Board (IRB)/Independent Ethics Committee (IEC)-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient
The patient has already mild symptoms of Fabry disease presented in at least one minor organ involvement, e.g. proteinuria 1, mild cardiac symptoms not needing treatment yet, pain attacks, gastrointestinal symptoms or history of TIA.

Exclusion Criteria:

The patient has received ERT or investigational product(s) for any reason within 30 days prior to study entry.
Any contraindication for MRI-diagnosis
Incompatibility to MRI contrast agent (elevated serum creatinine - according to SPC of contrast medium) The patient is unable to comply with the protocol, e.g., has a clinically relevant medical condition making implementation of the protocol difficult; has an uncooperative attitude; is unable to return for study evaluations; or is otherwise unlikely to complete the study, as determined by the investigator.
Planned ERT within the next 24 months (nevertheless if a ERT becomes medically necessary in the observational period ERT might be introduced)

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

25 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

Male and female patients with a genetically confirmed Fabry disease.

Sampling Method

Non-Probability Sample

Name	Affiliation	Role
Study Director	Takeda	Study Director

Facility	Status	City	State	ZIP	Country	Contacts
ZNA Middelheim		Antwerp		B-2020	Belgium
Institute of Pathology et de Génétique (IPG)

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
30594474	Derived	Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019 Feb;126(2):169-182. doi: 10.1016/j.ymgme.2018.11.005. Epub 2018 Nov 12.

ID	Term
D013106	Sphingolipidoses
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic