Fabry DiseaseNATI-FabNCT07872852
Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
A study testing Decision tree for initiating treatment in people with Fabry Disease, run by University Hospital, Bordeaux at 12 sites in France.
Trial summary
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 more about this study
- Who is it for?
- Ages 18 to 50 years, women only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Decision tree for initiating treatment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 12 sitesFrance
- Study dates
- 1 Nov 2026to 1 May 2033
- Phase
- Interventional
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 18 to 50 years
- Women only
- No healthy volunteers
- Adult
Who may be able to join
- 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
Who cannot join
- Contraindication to MRI
- 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
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- 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
Trial locations and contacts
12 sites in 1 country. Contact the study team or a site near you to ask about taking part.
12 sites in 1 country
France12 sites
Hôpital Femme Mère Enfant - Hospices civils de Lyon
Bron, 69677 Cedex
Alain FOUILHOUX, MD, 04 72 12 95 45 ext. +33, alain.fouilhoux@chu-lyon.fr
Hôpital Côte de Nacre - CHU Caen Normandie
Caen, 14033
Fabien LABOMBARDA, MD, PhD, 02 31 06 44 18 ext. +33, labombarda-f@chu-caen.fr
Institut Cœur Poumon - CHRU de Lille
Lille, 59037 Cedex
Nicolas LAMBLIN, MD, PhD, 03 20 44 50 38 ext. +33, nicolas.lamblin@chu-lille.fr
Hôpital Dupuytren 2 - CHU de Limoges
Limoges, 87042 Cedex
Elie MARTINS, MD, 05 55 05 63 10 ext. +33, elie.martins@chu-limoges.fr
Hôpital Arnaud de Villeneuve - CHU de Montpellier
Montpellier, 34295
François ROUBILLE, MD, PhD, 07 88 01 41 36 ext. +33, f-roubille@chu-montpellier.fr
Hôpital Carémeau - CHU de Nîmes
Nîmes, 30029 Cedex
Camille SOULLIER, MD, 04 66 68 68 68 ext. +33, camille.soullier@chu-nimes.fr
Hôpital La Pitié Salpêtrière - AP-HP
Paris, 75013
Philippe CHARRON, MD, PhD, 01 42 16 13 46 ext. +33, philippe.charron@aphp.fr
Hôpital Européen Georges Pompidou - AP-HP
Paris, 75908 Cedex 15
Albert HAGEGE, MD, PhD, 01 56 09 37 13 ext. +33, albert.hagege@aphp.fr
Hôpital Cardiologique Haut Lévêque - CHU de Bordeaux
Pessac, 33600
Patricia RÉANT, MD, PhD, 05 57 65 64 85 ext. +33, patricia.reant@chu-bordeaux.fr
Claire BAZIN, 05 25 35 20 82 ext. +33, recherche.cardiomyopathies@chu-bordeaux.fr
La Milétrie - CHU de Poitiers
Poitiers, 86000
Benjamin ALOS, MD, 05 49 44 19 54 ext. +33, benjamin.alos@chu-poitiers.fr
Hôpital Nord Laennec - CHU de Nantes
Saint-Herblain, 44800
Nicolas PIRIOU, MD, 02 53 48 27 81 ext. +33, nicolas.piriou@chu-nantes.fr
Hôpital Rangueil - CHU de Toulouse
Toulouse, 31059 Cedex 9
Olivier LAIREZ, MD, PhD, 05 61 77 72 37 ext. +33, lairez.o@chu-toulouse.fr
About this study
Official title: 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.
Read more
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.
Read the detailed description
The aim of the study is to estimate the potential therapeutic impact of a non-invasive Cardiac Magnetic Resonance imaging to detect low native myocardial T1 in non-treated nonhypertrophic Fabry females
- Conditions
- Fabry Disease
- Being tested
- Decision tree for initiating treatment
- Keywords
- Fabry disease, left ventricular hypertrophy, CMR imaging, low native myocardial T1 value
- Medical subject headings
- Fabry Disease, Hypertrophy, Left Ventricular
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Decision tree for initiating treatmentOther
- Cardiac Magnetic Resonance imaging to detect low native myocardial T1
- National centralised expert committee to determine therapeutic indications
- Recommendations forwarded to the local expert committee 4/ Local expert committee decision ( to start or not a specific therapy)
5/ Patiente decision
| Study group | Role | What they receive |
|---|---|---|
| CMR low native myocardial T1 value | Experimental | Potential therapeutic impact of CMR myocardial native T1 Receives: Other: Decision tree for initiating treatment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of non-treated non-hypertrophic Fabry females for whom the indication for specific Fabry therapy (ERT or chaperone) is modified (i.e. established) based on additional information provided by low native myocardial T1 value.
A centralized expert committee will review all participant data and establish indication for specific Fabry therapy without then with CMR low native T1 value.
First, indication for Fabry therapy will be established based on usual follow-up clinical and biological data. Then, CMR parameters will be displayed and change in indication for therapy will be collected.
Measured: Month 12
Secondary outcomes (4)
Association of low native T1 value with phenotype
Measured: Inclusion visit
Association of low native T1 value with genotype
Measured: Inclusion visit
Association of low native T1 value with cardiac status
Measured: Inclusion visit
Disease progression
Measured: Between inclusion visit and visit M60
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2026
- Study start1 Nov 2026 (estimated)
- Primary completion1 May 2029 (estimated)
- Study completion1 May 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Patricia RÉANT, MD, PhD, Principal investigator, Hôpital Cardiologique Haut-Lévêque - CHU de Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07872852
- Sponsor's protocol ID
- CHUBX 2024/38
- Other IDs
- 2025-A00801-48
- Acronym
- NATI-Fab
- Status last verified
- Sep 2026
- First submitted
- 17 Sep 2026
- Last updated
- 14 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No