Clinical trial NCT01210196: Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
Official title: Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Fabry
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2010-09-28
Enrollment: 36
Sex: ALL
Minimum age (years): 25
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Male and female patients with a genetically confirmed Fabry disease.

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.

Eligibility criteria: Inclusion Criteria:

1. 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
2. Female patients ≥ 25 years-old and male patients ≥ 25 years-old
3. The patient has not received enzyme replacement therapy for treatment of Fabry disease
4. 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
5. 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:

1. The patient has received ERT or investigational product(s) for any reason within 30 days prior to study entry.
2. Any contraindication for MRI-diagnosis
3. 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.
4. Planned ERT within the next 24 months (nevertheless if a ERT becomes medically necessary in the observational period ERT might be introduced)

Primary outcomes:
measure: Number of fibrotic left ventricular segments at baseline and after 12 and 24 months
timeFrame: 24 months
Secondary outcomes:
measure: Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI
timeFrame: 24 months
Other outcomes:
Locations:
city: Antwerp
country: Belgium
facility: ZNA Middelheim
city: Gosselies
country: Belgium
facility: Institute of Pathology et de Génétique (IPG)
city: Praha
country: Czechia
facility: Charles University in Prague and General University Hospital in Prague
city: Copenhagen
country: Denmark
facility: National University Hospital, Rigshospitalet
city: Turku
country: Finland
facility: Turku University Hospital
city: Berlin
country: Germany
facility: Charité University Medicine Campus Mitte
city: Hamburg
country: Germany
facility: University Medical Center Hamburg-Eppendorf
city: Mainz
country: Germany
facility: University of Mainz
city: Münster
country: Germany
facility: University Hospital of Münster
city: Würzburg
country: Germany
facility: University Hospital Würzburg
city: Uppsala
country: Sweden
facility: Uppsala University Hospital
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References:
citation: 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.