Sophisticated Assessment of Disease Burden in Patients With Fabry Disease

NCT01210196 | Completed DMC

• 1 other identifier: Shire/CS01
• Study Type: observational
• Target: 36
• Locations: 6 countries
• Sites: 11

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.

Conditions

Fabry Disease

Keywords

Fabry

Outcome Measures

Primary Outcomes (1)

• Number of fibrotic left ventricular segments at baseline and after 12 and 24 months

  24 months

Secondary Outcomes (1)

• Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI

  24 months

Study Arms (1)

mild affected Fabry patients

Procedure: MRI

Interventions

MRI PROCEDURE

Cardiac MRI after 12 and 24 months.

Also known as: MRT (German)

mild affected Fabry patients

Eligibility Criteria

• Age: 25 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Male and female patients with a genetically confirmed Fabry disease.

You may qualify if:

• 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.

You may not qualify if:

• 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)

Sponsors & Collaborators

• Shire: lead

Study Sites (11)

ZNA Middelheim

Antwerp, B-2020, Belgium

Location

Institute of Pathology et de Génétique (IPG)

Gosselies, B-6041, Belgium

Location

Charles University in Prague and General University Hospital in Prague

Prague, 12808, Czechia

Location

National University Hospital, Rigshospitalet

Copenhagen, DK-2100, Denmark

Location

Turku University Hospital

Turku, 20520, Finland

Location

Charité University Medicine Campus Mitte

Berlin, D-10117, Germany

Location

University Medical Center Hamburg-Eppendorf

Hamburg, D-20246, Germany

Location

University of Mainz

Mainz, 55131, Germany

Location

University Hospital of Münster

Münster, D-48149, Germany

Location

University Hospital Würzburg

Würzburg, D-97080, Germany

Location

Uppsala University Hospital

Uppsala, 751 85, Sweden

Location

Related Publications (1)

• 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.

  PMID: 30594474 DERIVED

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: September 25, 2010
• First Posted: September 28, 2010
• Study Start: October 31, 2010
• Primary Completion: September 30, 2013
• Study Completion: September 30, 2013
• Last Updated: June 3, 2021

Record last verified: 2021-05

Locations

BE (2); CZ (1); FI (1); SE (1); DE (5); DK (1)