Fabry DiseaseSOPHIANCT01210196
Sophisticated Assessment of Disease Burden in Patients With Fabry Disease
An observational study of Fabry Disease, run by Shire at 11 sites in 6 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 25 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- MRI
- Type of treatment
- Surgery or procedure
- How many people
- 36 participants
- Where
- 11 sitesin 6 countries
- Study dates
- 31 Oct 2010to 30 Sep 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 25 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Male and female patients with a genetically confirmed Fabry disease.
Who may be able to join
- 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.
Who cannot join
- 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)
Trial locations and contacts
11 sites in 6 countries.
11 sites in 6 countries
Germany5 sites
Charité University Medicine Campus Mitte
Berlin, D-10117
University Medical Center Hamburg-Eppendorf
Hamburg, D-20246
University of Mainz
Mainz, 55131
University Hospital of Münster
Münster, D-48149
University Hospital Würzburg
Würzburg, D-97080
Belgium2 sites
ZNA Middelheim
Antwerp, B-2020
Institute of Pathology et de Génétique (IPG)
Gosselies, B-6041
Czechia1 site
Charles University in Prague and General University Hospital in Prague
Prague, 12808
Denmark1 site
National University Hospital, Rigshospitalet
Copenhagen, DK-2100
About this study
Official title: Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study
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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- MRI
- Keywords
- Fabry
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRIProcedure or surgery
Also called MRT (German)
Cardiac MRI after 12 and 24 months.
| Study group | Role | What they receive |
|---|---|---|
| mild affected Fabry patients | Not described Receives: Procedure: MRI |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months
Measured: 24 months
Secondary outcomes (1)
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2010 (estimated)
- Study start31 Oct 2010
- Primary completion30 Sep 2013
- Study completion30 Sep 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 36 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shire
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Takeda
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01210196
- Sponsor's protocol ID
- Shire/CS01
- Acronym
- SOPHIA
- Status last verified
- May 2021
- First submitted
- 25 Sep 2010
- Last updated
- 3 Jun 2021
- Results posted
- No
- Data monitoring committee
- Yes
Publications
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.
PubMed 30594474
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sophisticated Assessment of Disease Burden in Patients With Fabry Disease - The SOPHIA in Fabry Disease Study
- ClinicalTrials.gov ID
- NCT01210196
- Acronym / sponsor ID
- SOPHIA / Shire/CS01
- Conditions
- Fabry Disease
- Keywords
- Fabry
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 36 participants (actual)
- Lead sponsor
- ShireIndustry (pharma, biotech, devices)
- Study start
- 31 Oct 2010 (actual)
- Primary completion
- 30 Sep 2013 (actual)
- Study completion
- 30 Sep 2013 (actual)
- First posted
- 28 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| mild affected Fabry patients | – | Procedure: MRI |
Who may qualify
- Ages
- 25 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Male and female patients with a genetically confirmed Fabry disease.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (4 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MRIAlso: MRT (German)Cardiac MRI after 12 and 24 months. | Procedure or surgery | mild affected Fabry patients |
Primary outcome
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months
Time frame: 24 months
1 secondary outcome
Left ventricular mass at 12 and 24 months compared to baseline assessed by MRI
Time frame: 24 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2021.
- Derived from this study: PubMed 30594474Weidemann 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Study Director study director
Takeda
11 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Shire at 11 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Jun 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in Germany, Belgium, Czechia, Denmark, Finland and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of fibrotic left ventricular segments at baseline and after 12 and 24 months (time frame: 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01210196, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jun 2021; AzTrials last refreshed its copy on 8 Nov 2026.