罕见病新药！欧洲药品管理局人用医药产品委员会建议批准Libmeldy疗法用于治疗早发型异染性脑白质营养不良（Early-Onset MLD）
First therapy recommended for full marketing authorization in the EU for eligible patients with confirmed diagnosis of late infantile or early juvenile MLD variants
One-time treatment with Libmeldy has been shown to preserve cognitive and motor function in most patients
Libmeldy is backed by data across 35 patients with follow-up of up to 8 years post-treatment, demonstrating the potential durability of HSC gene therapy
Orchard Therapeutics是英国的一家基因疗法新锐公司，致力于通过创新的基因疗法改变严重和危及生命的罕见病患者的生活。近日，该公司宣布，欧洲药品管理局（EMA）人用医药产品委员会（CHMP）已发布一份积极审查意见，建议完全或标准授予Libmeldy（编码芳基硫酸酯酶-A的冻存自体CD34+细胞）疗法的上市许可，这是一款基于自体CD34+细胞的基因疗法，用于治疗异染性脑白质营养不良（MLD）。由于ARSA基因双等位突变导致芳基硫酸酯酶活性减弱，婴幼时期或青少年时期患者通常没有与该疾病相关的临床表现，部分在青少年时期发病的患者有早期的临床表现，认知水平下降之前仍能独立行走。
关于MLD：
（MLD is a very rare, severe genetic condition caused by mutations in the ARSA gene which lead to neurological damage and developmental regression. In its most severe and common forms, young children rapidly lose the ability to walk, talk and interact with the world around them. A majority of these patients pass away in childhood, with palliative care often as their only option.）
MLD是一种非常罕见、严重的基因遗传疾病，由于ARSA基因双等位基因突变从而导致患者神经系统受损、成长发育迟滞。最严重且常见的情况就是，患儿发病后很快地就丧失了行走、说话、与周围环境互动的能力，所以大多患者在童年时期就夭折了，而采取保守治疗成为了他们唯一的可选项。[1]
关于Libmeldy:
(Libmeldy is designed as a one-time gene therapy, developed in partnership with the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, in which the patient's own hematopoietic stem cells (HSCs) are selected, and functional copies of the ARSA gene are inserted into the genome of the HSCs using a lentiviral vector before these genetically modified cells are infused back into the patient. The ability of the gene-corrected HSCs to migrate across the blood-brain barrier into the brain, engraft, and express the functional enzyme has the potential to persistently correct the underlying genetic condition with a single treatment.)
Libmeldy疗法是与意大利米兰圣拉菲尔基因研究所合作研发的一次性基因疗法，试验前，事先提取了患者的造血干细胞，复制的功能型ARSA基因通过慢病毒载体输入患者造血干细胞所在基因组中，以防止改良过后的细胞与患者融合。基因修改过的HSC细胞能够通过血-脑屏障转移至脑部，植入有表达功能的酶，从根本上改变基因表达环境。
Data Supporting the Clinical Profile of Libmeldy
The positive CHMP opinion is supported by clinical studies of Libmeldy in both pre- and early- symptomatic, early-onset MLD patients. Early-onset MLD encompasses the disease variants traditionally referred to as late infantile (LI) and early juvenile (EJ).Clinical efficacy was based on the integrated analysis of results from 29 patients with early-onset MLD who were all treated with Libmeldy prepared as a fresh (non-cryopreserved) formulation:
references:
[1][2]retrieved Oct. 16 2020 from: https://www.globenewswire.com/news-release/2020/10/16/2109748/0/en/Orchard-Therapeutics-Receives-Positive-CHMP-Opinion-for-Libmeldy-for-the-Treatment-of-Early-Onset-Metachromatic-Leukodystrophy-MLD.html
One-time treatment with Libmeldy has been shown to preserve cognitive and motor function in most patients
Libmeldy is backed by data across 35 patients with follow-up of up to 8 years post-treatment, demonstrating the potential durability of HSC gene therapy
Orchard Therapeutics是英国的一家基因疗法新锐公司，致力于通过创新的基因疗法改变严重和危及生命的罕见病患者的生活。近日，该公司宣布，欧洲药品管理局（EMA）人用医药产品委员会（CHMP）已发布一份积极审查意见，建议完全或标准授予Libmeldy（编码芳基硫酸酯酶-A的冻存自体CD34+细胞）疗法的上市许可，这是一款基于自体CD34+细胞的基因疗法，用于治疗异染性脑白质营养不良（MLD）。由于ARSA基因双等位突变导致芳基硫酸酯酶活性减弱，婴幼时期或青少年时期患者通常没有与该疾病相关的临床表现，部分在青少年时期发病的患者有早期的临床表现，认知水平下降之前仍能独立行走。
关于MLD：
（MLD is a very rare, severe genetic condition caused by mutations in the ARSA gene which lead to neurological damage and developmental regression. In its most severe and common forms, young children rapidly lose the ability to walk, talk and interact with the world around them. A majority of these patients pass away in childhood, with palliative care often as their only option.）
MLD是一种非常罕见、严重的基因遗传疾病，由于ARSA基因双等位基因突变从而导致患者神经系统受损、成长发育迟滞。最严重且常见的情况就是，患儿发病后很快地就丧失了行走、说话、与周围环境互动的能力，所以大多患者在童年时期就夭折了，而采取保守治疗成为了他们唯一的可选项。[1]
关于Libmeldy:
(Libmeldy is designed as a one-time gene therapy, developed in partnership with the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) in Milan, Italy, in which the patient's own hematopoietic stem cells (HSCs) are selected, and functional copies of the ARSA gene are inserted into the genome of the HSCs using a lentiviral vector before these genetically modified cells are infused back into the patient. The ability of the gene-corrected HSCs to migrate across the blood-brain barrier into the brain, engraft, and express the functional enzyme has the potential to persistently correct the underlying genetic condition with a single treatment.)
Libmeldy疗法是与意大利米兰圣拉菲尔基因研究所合作研发的一次性基因疗法，试验前，事先提取了患者的造血干细胞，复制的功能型ARSA基因通过慢病毒载体输入患者造血干细胞所在基因组中，以防止改良过后的细胞与患者融合。基因修改过的HSC细胞能够通过血-脑屏障转移至脑部，植入有表达功能的酶，从根本上改变基因表达环境。
Data Supporting the Clinical Profile of Libmeldy
The positive CHMP opinion is supported by clinical studies of Libmeldy in both pre- and early- symptomatic, early-onset MLD patients. Early-onset MLD encompasses the disease variants traditionally referred to as late infantile (LI) and early juvenile (EJ).Clinical efficacy was based on the integrated analysis of results from 29 patients with early-onset MLD who were all treated with Libmeldy prepared as a fresh (non-cryopreserved) formulation:
- 20 patients were treated in a registrational study (median 4 years follow-up); 9 patients were treated in expanded access programs (median 1.5 years follow-up).
- 16 patients had a diagnosis of LI MLD; 13 had a diagnosis of EJ MLD.
- At the time of treatment, 20 patients were deemed pre-symptomatic; 9 were deemed early-symptomatic.
- 29 patients from integrated efficacy analysis (above).
- 6 patients treated with the cryopreserved formulation of Libmeldy.[2]
references:
[1][2]retrieved Oct. 16 2020 from: https://www.globenewswire.com/news-release/2020/10/16/2109748/0/en/Orchard-Therapeutics-Receives-Positive-CHMP-Opinion-for-Libmeldy-for-the-Treatment-of-Early-Onset-Metachromatic-Leukodystrophy-MLD.html
