Heart MRI findings to guide treatment timing in untreated women with Fabry disease
Tests a heart MRI-based decision guide for starting treatment in women with Fabry disease.
Plain-language title generated from the registry record
Registry title: Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
Key facts
- Where
- Bron, Caen, Lille, Limoges, Montpellier, Nîmes, Paris, Pessac, Poitiers, Saint-Herblain, and Toulouse, FranceSee the 12 sites
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 50 years old?
Source: NCT07872852, who can take part
Where in France
- Hôpital Femme Mère Enfant, Hospices Civils de LyonBron, FranceNo longer taking part
- Hôpital Côte de Nacre - CHU Caen NormandieCaen, FranceNo longer taking part
- Institut Cœur Poumon - CHRU de LilleLille, FranceNo longer taking part
- Hôpital Dupuytren 2 - CHU de LimogesLimoges, FranceNo longer taking part
- Hôpital Arnaud de Villeneuve CHU de MontpellierMontpellier, FranceNo longer taking part
- Hôpital Carémeau - CHU de NîmesNîmes, FranceNo longer taking part
- Hôpital Européen Georges Pompidou - AP-HPParis, FranceNo longer taking part
- Hôpital La Pitié Salpêtrière AP-HPParis, FranceNo longer taking part
- Hôpital Cardiologique Haut Lévêque - CHU de BordeauxPessac, FranceNo longer taking part
- La Milétrie - CHU de PoitiersPoitiers, FranceNo longer taking part
- Hôpital Nord Laennec - CHU de NantesSaint-Herblain, FranceNo longer taking part
- Hôpital Rangueil - CHU de ToulouseToulouse, FranceNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University Hospital, Bordeaux
- Trial code
- NCT07872852
- Record updated
- 14 October 2026
- Original description
Females with Fabry disease are characterized by variable phenotypes regarding time of onset, severity of symptoms and progression of disease due to the random inactivation of X chromosome leading to a cellular mosaic of mutated and wild genotypes.Read full original descriptionShow less
Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With a Genetically Confirmed Diagnosis of Fabry Disease (FD)
Females with Fabry disease are characterized by variable phenotypes regarding time of onset, severity of symptoms and progression of disease due to the random inactivation of X chromosome leading to a cellular mosaic of mutated and wild genotypes.
Left ventricular hypertrophy (LVH) is a relatively late manifestation, appearing typically after the third decade in men and the fourth decade in women. Cardiac involvement progresses throughout life in Fabry females and is the first cause of death but in contrast to males, the loss of myocardial function and the development of fibrosis do not necessarily require myocardial hypertrophy in female with FD.
The presence of overt LVH and myocardial fibrosis has been shown to negatively affect treatment outcome, suggesting the importance of early initiation of treatment.
Multiparametric cardiac magnetic resonance (CMR) is able to detect sphingolipid infiltration by identifying a pre-LVH phase of cardiac FD defined by a low myocardial native T1, occurring in up to 60% of FD patients, with a concomitant slight elevated LV ejection fraction and electrocardiographic (ECG) changes. Low myocardial T1 values are independently associated with FD progression and are risk factors for clinical worsening.
Normal native T1 value is known to be higher in healthy young women than in men but prevalence of low native T1 in Fabry females has not been correctly assessed so far.
Treating Fabry females at the appropriate time is still a major issue and remains questionable as therapeutic and financial burden has to be balanced with severity status.
However, low native myocardial T1 in CMR is an early marker of cardiac impairment in FD that could justify adapting the therapeutic initiation notably in women. This is of paramount importance as early treatment may provide more benefit before occurrence of irreversible lesions such as LVH and fibrosis.
Inclusion: Female; Aged 18 - 50 year-old; BMI < 30 kg/m2; With diagnosis of FD (confirmed by genotype); Non-left ventricular hypertrophy (septum <12 mm) documented by echocardiography within 6 months; Non treated by FD specific treatment (ERT, migalastat or experimental treatment currently under clinical evaluation); Willingness to cooperate with all study procedures and available for scheduled study events; Able to provide informed consent in writing.
Exclusion: Contraindication to gadolinium-based contrast agent (GBCA) that include; Renal excretory dysfunction, estimated glomerular filtration rate ≤30 mL/min/1.73m2 body surface area; Known allergic reactions or hypersensitivity to GBCA; History of severe allergy; Diagnosed seizure disorder; Contraindication to MRI; Pregnancy; Breastfeeding; Subject who is not affiliated to a social security scheme or is a beneficiary of such a scheme; Subject under supervision or legal guardianship; Subject deprived of liberty by a judicial or administrative decision.