Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study

Orphanet Journal of Rare Diseases

Research

Aurore Clément¹  Fabrizia Bignami¹  Caroline Sevin²  Samira Hatteb²  Odile Boespflug-Tanguy³  Françoise Bugnard⁴  Stève Bénard⁴  Louis Chillotti⁴ 

[1] Blueblird Bio, Somerville, MA, US;Center of Reference for Leukodystrophies, Bicêtre Hospital - APHP, Le Kremlin Bicêtre, France;Center of Reference for Leukodystrophies, Robert Debré Hospital - APHP, Paris, France;Stève consultants, Oullins, France;

关键词: Adrenoleukodystrophy;    CCALD;    Epidemiology;    Claims;    Registry;    HSCT;    SNDS;    Care management;    Neurodegenerative diseases;    Health cost;   

DOI  :  10.1186/s13023-023-02843-x

 received in 2022-10-03, accepted in 2023-07-23,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundX-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an estimated incidence around 1:25 000 newborns worldwide, mostly among men. Childhood Cerebral ALD (CCALD) is the most severe form with a poor prognosis if not properly treated during the first years of life. Currently, only allogeneic hematopoietic stem cell transplantation (allo-HSCT) is widely available for CCALD treatment. To date, there is a lack of data regarding CCALD epidemiology, natural history, and current management in France. This knowledge is crucial for the development of new therapies such as gene therapies. In this context, the French National Health Data System (SNDS) is a particularly indicated database to collect information meeting these needs. A non-interventional, national, real-life, retrospective study was performed using secondary data from the national ALD registry (LEUKOFRANCE) and SNDS. CCALD patients detected between 2009 and 2018 and successfully matched between LEUKOFRANCE and SNDS were included in this study. Index date was defined as the first CCALD event detected during study period. Subgroups of patients with sufficient follow-up (6 months) and history (1 year) available around index date were analyzed to assess CCALD burden and natural history.Results52 patients were included into the matched cohort. Median annual incidence of CCALD was estimated at 4 patients. Median age at CCALD diagnosis was 7.0 years. Among patients without allo-HSCT, five-year overall survival was 66.6%, with 93.3% of them presenting at least one CCALD symptom and 62.1% presenting a least one major functional disability (MFD). Among patients with allo-HSCT, five-year overall survival was 94.4%, with only 11.1% of patients presenting CCALD symptoms, and 16.7% of presenting a MFD. Mean annualized costs were almost twice as important among patients without allo-HSCT, with 49,211€, 23,117€, respectively. Costs were almost exclusively represented by hospitalizations.ConclusionsTo the best of our knowledge, this is the most up to date study analyzing CCALD epidemiology, clinical and economic burden in France. The necessity of a precocious management with HSCT highlight the potential benefits of including an expanded screening program among newborns, coupled with family screenings when a mutation is detected.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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