FDA Approves Seeker System for Newborn Screening of MPS I, Pompe, Gaucher, and Fabry Diseases
The FDA has permitted marketing of the Seeker System for the screening of 4, rare Lysosomal Storage Disorders in newborns.
The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher and Fabry diseases.
This is the first newborn screening test permitted to be marketed by the FDA for these disorders.
Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health said:
“The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders.”
Dr Gutierrez added:
“Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That’s why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important.”
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today, were there were no FDA-authorized devices for screening of these disorders.
No False Negatives
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn’s heel 24 to 48 hours after birth.
The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
Risks associated with use of the screening system include false negative findings but studies with the Seeker System found no false negative results.
The Seeker System is manufactured by Baebies Inc.
About Gaucher Disease
Gaucher disease is an inherited lysosomal disorder in which a deficiency of the enzyme glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte-macrophage system. The most common form of this rare disease is Gaucher type 1.
In the video clip below, Zachary Spigelman, MD talks about the differences between adults and childhood Gaucher disease and the need for early diagnosis and treatment.
About Pompe Disease
Pompe disease is a rare lysosomal disease that may present in childhood (early-onset) or in adulthood (late-onset). In both cases, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA). Symptoms vary greatly in this population but can be severe and ultimately deadly in the early-onset type.
In an interview with RDR last fall, Priya Kishnani, MD talks about Pompe disease and the need for more research for this often devastating disease.
About Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder that leads to excessive deposition of glycosphingolipids throughout the body. Skin, eye, kidney, heart, brain, and peripheral nervous system are highly vulnerable. Fabry disease is caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A) which degrades specific lipids in lysosomes, including globotriaosylceramide (GL-3). The accumulation of GL-3 is believed to cause the various symptoms of Fabry disease.
Symptoms do appear in childhood but often go undiagnosed for several years. As the disease progressive, most patients with Fabry disease die in their fourth or fifth decade due to complications arising from renal or cardiovascular problems.
Jack Johnson, president of the Fabry Support and Information Group (FSIG) talks about the condition in this clip below.
About Mucopolysaccharidosis type 1
MPS 1, also known as Hurler syndrome, is a rare neurodegenerative disease caused by deficiency of the a-l-iduronidase (IDUA) gene. Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment.
In the video clip below, Steven Schoenfeld, MD explains the pathophysiology of MPS 1.