NCT03949920

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
21

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 2019

Longer than P75 for all trials

Geographic Reach
1 country

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 18, 2019

Completed
26 days until next milestone

First Posted

Study publicly available on registry

May 14, 2019

Completed
2 days until next milestone

Study Start

First participant enrolled

May 16, 2019

Completed
4.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2023

Completed
Last Updated

May 31, 2023

Status Verified

May 1, 2023

Enrollment Period

4.6 years

First QC Date

April 18, 2019

Last Update Submit

May 30, 2023

Conditions

Fabry Disease

Keywords

FabryAnderson-FabryMigalastat

Outcome Measures

Primary Outcomes (1)

  • Indexed Left Ventricular Mass (grams/m2)

    LV mass, indexed to body surface area, assessed using cardiac MRI.

    12 months

Secondary Outcomes (12)

  • Change in BSA-indexed LV volumes measured using cardiac MRI, from baseline to 12 months (mls/m2)

    12 months

  • Change LV ejection fraction, measured using cardiac MRI (%)

    12 months

  • Change in myocardial extracellular volume, measured using cardiac MRI (%)

    12 months

  • Change in myocardial tissue T1 and T2 times measured using cardiac MRI (ms)

    12 months

  • Change in pulmonary artery systolic pressure, measured using echocardiography (mmHg)

    12 months

  • +7 more secondary outcomes

Interventions

MigalastatDRUG

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.

Eligibility Criteria

Age16 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Patients with Fabry disease commencing Migalastat as part of routine care.

You may qualify if:

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

You may not qualify if:

  • Contraindication to cardiac MRI

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Manchester University Foundation Trust

Manchester, M139LT, United Kingdom

Location

Salford Royal NHS Foundation Trust

Manchester, M6 8HD, United Kingdom

Location

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.

MeSH Terms

Conditions

Fabry Disease

Interventions

migalastat

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 18, 2019

First Posted

May 14, 2019

Study Start

May 16, 2019

Primary Completion

December 31, 2023

Study Completion

December 31, 2023

Last Updated

May 31, 2023

Record last verified: 2023-05

Data Sharing

IPD Sharing
Will not share

There is no plan to share IPD with other researchers.

Locations

GB(2)