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A Study of Migalastat in Fabry Disease (GALAFAB)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03949920
Recruitment Status : Recruiting
First Posted : May 14, 2019
Last Update Posted : September 9, 2020
Salford Royal NHS Foundation Trust
Information provided by (Responsible Party):
Manchester University NHS Foundation Trust

Brief Summary:
Fabry disease is a rare metabolic condition characterised by the widespread deposition of sphingolipids in multiple organ systems. Cardiac involvement is common, it occurs in fifty percent of patients and it is the leading cause of death. Despite this, heart and blood vessel (cardiovascular system) manifestations of Fabry disease remain poorly characterised, and it remains unclear which patients benefit from therapy, or when therapy should be initiated. Migalastat is increasingly used to treat fabry disease however the impact of Migalastat on the cardiovascular system is poorly understood. Detailed assessment of the impact of Migalastat on heart and blood vessel structure and function is urgently needed. This observational study will use state of the art, non-invasive investigations to provide greater understanding of the cardiovascular manifestations of Fabry disease and the effects of Migalastat. It will provide insight into which patients respond more effectively to Migalastat, which in turn will facilitate personalisation of therapy, optimisation of the timing of therapy initiation and more cost-effective care.

Condition or disease Intervention/treatment
Fabry Disease Drug: Migalastat

Detailed Description:

This is a prospective longitudinal observational study of patients starting Migalastat as part of routine care. Participants will be recruited from outpatient clinics and have a number of investigations before starting therapy and after twelve months of therapy.

Investigations will include a detailed assessment of symptoms and clinical features, blood tests, echocardiography, detailed cardiac MRI scans, heart rhythm monitoring and exercise capacity assessment.

Parameters will be assessed at baseline and at twelve months.

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Study Type : Observational
Estimated Enrollment : 21 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry Disease
Actual Study Start Date : May 16, 2019
Estimated Primary Completion Date : December 1, 2021
Estimated Study Completion Date : February 1, 2022

Resource links provided by the National Library of Medicine

Intervention Details:
  • Drug: Migalastat
    Participants will be starting Migalastat as part of clinical care. Their initiation onto Migalastat is not determined by this study or it's protocol. Interventions as part of the study will be limited to the study investigations.

Primary Outcome Measures :
  1. Indexed Left Ventricular Mass (grams/m2) [ Time Frame: 12 months ]
    LV mass, indexed to body surface area, assessed using cardiac MRI.

Secondary Outcome Measures :
  1. Change in BSA-indexed LV volumes measured using cardiac MRI, from baseline to 12 months (mls/m2) [ Time Frame: 12 months ]
  2. Change LV ejection fraction, measured using cardiac MRI (%) [ Time Frame: 12 months ]
  3. Change in myocardial extracellular volume, measured using cardiac MRI (%) [ Time Frame: 12 months ]
  4. Change in myocardial tissue T1 and T2 times measured using cardiac MRI (ms) [ Time Frame: 12 months ]
  5. Change in pulmonary artery systolic pressure, measured using echocardiography (mmHg) [ Time Frame: 12 months ]
  6. Change in myocardial PCr/ATP ratio, measured using cardiac MRI spectroscopy (ratio) [ Time Frame: 12 months ]
  7. Change in the number of extra heart beats in a 24 hour period, measured using ambulatory heart monitoring. (number) [ Time Frame: 12 months ]
  8. Change in exercise capacity - Six minute walk test (meters) [ Time Frame: 12 months ]
  9. 20. Change in health status (quality of life), measured using change in SF-36 score. (score) [ Time Frame: 12 months ]
  10. Change in Lyso-GB3 blood test levels (nmol/L) [ Time Frame: 12 months ]
  11. Change in Troponin blood test levels (ng/L) [ Time Frame: 12 months ]
  12. Change in NT pro BNP blood test levels (pg/L) [ Time Frame: 12 months ]

Biospecimen Retention:   Samples With DNA
Participants may agree to donating a blood sample that will be stored in a biorepository for use in future ethically approved research.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Fabry disease commencing Migalastat as part of routine care.

Inclusion Criteria:

Confirmed Fabry disease Aged 16 or over Beginning clinical treatment with Migalastat

Exclusion Criteria:

Contraindication to cardiac MRI

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03949920

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Contact: Chris Miller, BSc MBChB MRCP PhD 0161 291 4075 ext 4075
Contact: Chris Orsborne, BSc MBChB MRCP 0161 291 4075 ext 4075

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United Kingdom
Manchester University Foundation Trust Recruiting
Manchester, United Kingdom, M139LT
Contact: Chris Miller, BSc, MBChB, PhD, MRCP    0161 291 4075 ext 4075   
Contact: Chris Orsborne, BSc, MBChB, MRCP    0161 291 4075 ext 4075   
Principal Investigator: Chris Orsborne, BSc, MBChB, MRCP         
Salford Royal NHS Foundation Trust Not yet recruiting
Manchester, United Kingdom, M6 8HD
Contact: Ana Jovanovic    0161 206 1080 ext 61080   
Contact: Karen Wynne    0161 206 1080 ext 60180   
Sponsors and Collaborators
Manchester University NHS Foundation Trust
Salford Royal NHS Foundation Trust
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Responsible Party: Manchester University NHS Foundation Trust Identifier: NCT03949920    
Other Study ID Numbers: B00544
19/NW/0099 ( Other Identifier: REC )
First Posted: May 14, 2019    Key Record Dates
Last Update Posted: September 9, 2020
Last Verified: September 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: There is no plan to share IPD with other researchers.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Manchester University NHS Foundation Trust:
Additional relevant MeSH terms:
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Fabry Disease
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
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders