FDA近日批准了PerkinElmer 的EnLite Neonatal TREC Kit，这是首个获批上市的检测新生儿重症综合性免疫缺陷（SCID）的试剂盒。

根据美国CDC的数据，每年美国大约会检查出40—100个新生儿患重症综合性免疫缺陷（SCID）。SCID是由参与T细胞和其他抗感染的免疫细胞发育过程的基因缺陷所导致的。患有SCID的新生儿在出生时就不正常，然而最危险的是在生下来之后的几个月中会因为感染而有生命危险。如果没有早期干预和治疗，新生儿通常在出生一年之内就会死亡，而早期干预治疗可以极大地提高存活率。

EnLite Neonatal TREC Kit的使用方法非常简单，仅需要从新生儿脚后跟获取几滴血液，该试剂盒就可以检测新生儿基因组中的T细胞受体切除环DNA序列(TREC DNA)是否降低或缺失，这是患有SCID的新生儿的特征。

CFDA的官员表示，EnLite Neonatal TREC Kit上市后，希望美国能展开SCID的早期筛查和干预治疗工作，以提高患儿的生存率。迄今为止已有25个州同意对SCID进行筛查，并且规定只能使用FDA批准的试剂盒。

FDA对EnLite Neonatal TREC Kit的审批过程中包括一项6400个血样的临床试验，在这6400个血样中，已通过常规手段检测出17个SCID患者，而EnLite Neonatal TREC Kit准确地检测出了这17个样本。

EnLite Neonatal TREC Kit由PerkinElmer 的子公司Wallac Oy制造。

原文 FDA allows marketing of the first newborn screening test to help detect Severe Combined Immunodeficiency

The U.S. Food and Drug Administration today allowed marketing of the EnLite Neonatal TREC Kit， the first screening test permitted to be marketed by FDA for Severe Combined Immunodeficiency (SCID) in newborns.

According to the Centers for Disease Control and Prevention， approximately 40 to 100 new cases of SCID are identified in newborns in the United States each year. SCID is a group of disorders caused by defects in genes involved in the development and function of T cells and other infection-fighting immune cells.Babies with SCID appear normal at birth， but typically develop life-threatening infections within a few months. Without early intervention and treatment， death can occur within the baby’s first year； early detection and treatment can markedly improve survival.

Using a few drops of blood taken from the newborn’s heel， which is dried on filter paper， the EnLite Neonatal TREC Kit can determine whether a certain type of DNA， known as T-cell receptor excision circles (TREC DNA)， is low or missing from the newborn’s blood. Newborns with SCID typically have zero or low amounts of TREC DNA compared to healthy infants. Additional testing is required to obtain a SCID diagnosis.

“SCID is a fatal disease that can be treated with early intervention， including screening，” said Alberto Gutierrez， Ph.D.， director of the Office of In Vitro Diagnostics and Radiological Health in FDA’s Center for Devices and Radiological Health. “For the first time， the FDA is allowing the marketing of a newborn screening test that will enable states to incorporate an FDA reviewed SCID test into their standard newborn screening panels and allow earlier identification for affected individuals，” added Gutierrez.

The Secretary of the U.S. Department of Health and Human Services and the Advisory Committee on Heritable Disorders in Newborns and Children recommend that every state screen newborn infants for SCID， among other genetic， endocrine and metabolic disorders. To date， 25 states plus the District of Columbia and the Navajo Nation have implemented screening programs for SCID. Some states have regulations requiring that their newborn screening program use an FDA-approved or FDA-cleared test.

The FDA’s review included a clinical study of approximately 6，400 blood spot specimens from routine screening of newborns， 17 of which had confirmed SCID diagnosis. The EnLite Neonatal TREC Kit correctly identified all 17 SCID cases.

The EnLite Neonatal TREC Kit is manufactured by Wallac Oy， a subsidiary of PerkinElmer， at its facility in Turku， Finland. PerkinElmer is based in Waltham， Massachusetts.