Observational studies

Recruiting
Completed

METAGLUT1 study

Early Diagnosis of the GLUT1 Deficiency Syndrome with a Blood Based Test (METAglut1)

Clinical trial ID: NCT03722212

The multicenter METAglut1 study evaluated the diagnostic performance of a novel blood-based test measuring GLUT1 expression on red blood cells, aiming to facilitate early diagnosis of GLUT1 deficiency syndrome. This test was prospectively and blindly compared to the reference diagnostic approach, including lumbar puncture for CSF glucose measurement and genetic testing.

The results showed that the METAglut1 test is simple, non-invasive, and reliable, with good concordance with CSF findings, a sensitivity of around 80% and a specificity close to 100%.

Overall, the study demonstrates that METAglut1 is a useful and accessible screening tool, enabling earlier diagnosis of GLUT1 deficiency, including atypical forms, and supporting earlier clinical management.

 

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Recruiting
On going

ARISE: Disease Progression in Women with X-linked Adrenoleukodystrophy

Clinical trial ID: NCT06178120

This single-center study focuses on women with adrenomyeloneuropathy and aims to identify biomarkers of disease progression to be used in future therapeutic trials.

 

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On going

CALDIFF: Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy

ClinicalTrials.gov ID NCT05911919

This multicenter study focuses on men with a mutation in the ABCDI gene, who have not yet developed the cerebral form of adrenoleukodystrophy. The study aims to demonstrate the diagnostic performance of a diffusion tensor imaging biomarker in detecting early-stage cerebral demyelination, independently of an expert panel.

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Therapeutic trials and compassionate access programs

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On going

CALYX : A clinical trial to assess the efficacy and safety of leriglitazone in adult male subjects with cerebral adrenoleukodystrophy.

Clinical Trial ID: NCT05819866

This phase 3, randomized, double-blind, placebo-controlled trial evaluates the efficacy and safety of leriglitazone in adult males with cerebral adrenoleukodystrophy who are not eligible for hematopoietic stem cell transplantation. Participants receive either leriglitazone or a placebo and are followed for 3 years. The primary endpoint is the time to major disease progression, defined as death or permanent respiratory dependency. Secondary endpoints include changes in MRI lesion burden (Loes score).

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Recruiting
Completed

Triheptanoin in GLUT1 deficiency

Clinical trial ID : NCT02014883

The phase II open-label GLUT-HEP study evaluated the efficacy and safety of triheptanoin in patients with GLUT1 deficiency syndrome, particularly those with paroxysmal movement disorders. The study showed that triheptanoin, an anaplerotic substrate for the Krebs cycle, significantly improved brain energy metabolism and led to a marked reduction (around 90%) in paroxysmal events during the treatment phase, with recurrence after withdrawal.

Follow-up data suggested that this effect could be sustained over time, with continued reductions in motor and non-motor episodes and improvements in clinical severity and possibly cognition.

Overall, the study supported triheptanoin as a promising alternative energy therapy in GLUT1-DS, particularly for patients who do not tolerate or respond adequately to the ketogenic diet.

 

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On going

Lediant registry

As a condition of the marketing authorization under exceptional circumstances by the European Medicines Agency, the marketing authorization holder must maintain a patient registry for individuals with Cerebrotendinous xanthomatosis treated with chenodeoxycholic acid. The registry collects long-term real-world data on safety and effectiveness, including adverse events, liver function, and disease progression, to support ongoing evaluation of the medicine’s benefit-risk balance.

Report (EPAR)

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