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1Service de pharmacologie, INSERM U970, hôpital européen Georges-Pompidou, université de Paris, Assitance publique-Hôpitaux de Paris, 20, rue Leblanc, 75015 Paris, France.
Insights
Celiprolol, a beta-blocker, significantly reduced major adverse events in patients with vascular Ehlers-Danlos syndrome by threefold. This finding offers a promising new treatment for this rare genetic connective tissue disorder.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Medicine
- Rare Diseases
Background:
- Vascular Ehlers-Danlos syndrome (vEDS) is a severe genetic connective tissue disorder.
- Caused by mutations in the COL3A1 gene, vEDS presents with arterial dissections, organ ruptures, and tissue fragility.
- Currently, no specific treatments are available for vEDS.
Purpose of the Study:
- To evaluate the efficacy of celiprolol as a treatment for vascular Ehlers-Danlos syndrome.
- To assess the impact of celiprolol on major adverse events in vEDS patients.
Main Methods:
- A randomized, controlled trial was conducted to test celiprolol.
- Celiprolol, a beta-blocker with specific antagonist properties, was administered to patients.
- Patient outcomes were compared between the treatment and control groups.
Main Results:
- Celiprolol administration resulted in a threefold decrease in major disease-related events.
- The observed benefit was consistent in patients with molecularly confirmed vEDS.
- Real-world data from a French cohort showed similar positive outcomes with routine celiprolol administration.
Conclusions:
- Celiprolol demonstrates significant therapeutic potential for vascular Ehlers-Danlos syndrome.
- This beta-blocker represents the first effective treatment option for vEDS.
- Further investigation and regulatory review (e.g., FDA New Drug Application) are underway for celiprolol availability.
Abstract:
Vascular Ehlers-Danlos syndrome (OMIM 130050, 1/150,000 birth) is caused by mutations in collagen 3A1 gene. It is associated with severe phenotype associating early arterial dissection and rupture, digestive and uterine perforations, and skin and joints fragility. Until recently, no treatment was available. Celiprolol, a beta1 antagonist with beta2 partial antagonist properties betablocker was tested in a randomized, controlled trial. We could show that this compound was associated with a 3-fold decrease in major events related to the disease. This effect was similar in molecular-proven patients. Administration of celiprolol in a cohort of patients followed routinely in France was accompanied to similar benefit. Celiprolol is unavailable in the USA. The ACER Therapeutics company applied for new drug application (NDA) to the Food and Drug Administration.