SILVER SPRING, Md.,
Feb. 21, 2020 /PRNewswire/
-- The U.S. Food and Drug Administration today authorized
marketing of the first test to detect a genetic condition known as
Fragile X Syndrome (FXS), the most common known cause of inherited
developmental delay and intellectual disability. The test is
intended as an aid in diagnosing FXS and is to be used along with
the evaluation of a patient's family history and clinical signs and
symptoms of FXS. Additionally, this test is intended for use in
adults who may be carriers of genetic alterations in the gene
associated with FXS, called the FMR1 gene.
"This novel diagnostic provides doctors and their patients
the first FDA authorized genetic test to aid in diagnosing Fragile
X Syndrome, as well as helping parents know their risk of having a
child with Fragile X Syndrome," said Wendy
Rubinstein, M.D., Ph.D., director of personalized medicine
in the Office of In Vitro Diagnostics and Radiological Health at
the FDA's Center for Devices and Radiological Health. "Early
diagnosis is key to helping children affected with Fragile X
Syndrome through early intervention."
According to the Centers for Disease Control and Prevention,
approximately 1 in 4,000 males and 1 in 8,000 females in the U.S.
have FXS, which is a genetic disorder caused by changes in the
FMR1 gene located on the X chromosome. A segment of the DNA
in the gene, known as a CGG trinucleotide repeat, is repeated in
excess on the X chromosome in individuals with this disorder. While
some repetition of the CGG repeat is normal, a high number of
repeats may indicate potential health risks. The AmplideX Fragile X
Dx and Carrier Screen Kit uses blood specimens from patients to
measure the number of repeats of the CGG segment in the FMR1
gene. The test can determine whether a patient has a number of CGG
repeats that is considered either normal, intermediate, premutation
or full mutation.
Individuals with a full mutation typically have FXS, which is
associated with developmental delays, learning disabilities, social
and behavioral issues, intellectual disabilities and autism
spectrum disorder. Women with a premutation have an increased risk
of having a child with FXS as compared to women without a
premutation. The number of women who have the Fragile X premutation
is believed to be approximately 1 in 150 women. Men with a
premutation will pass the premutation to their daughters only.
Individuals with normal or intermediate levels of repeated CGG
segments are currently thought to be asymptomatic for FXS or other
fragile X-associated disorders.
In addition to aiding in the diagnosis of FXS and for carrier
testing, this test can be used as an aid in the diagnosis of
fragile X-associated disorders, including fragile X-associated
tremor/ataxia syndrome, which is a movement and cognitive disorder
that typically occurs in adults over age 50, and fragile
X-associated primary ovarian insufficiency, a condition that is
characterized by reduced function of the ovaries. The AmplideX
Fragile X Dx and Carrier Screen Kit is not intended for use in
fetal diagnostic testing, the screening of eggs obtained for
in-vitro fertilization prior to implantation, or standāalone
diagnoses of FXS.
The FDA reviewed data for this test through the de novo
classification process, a regulatory pathway for low- to
moderate-risk devices of a new type. During this process, the FDA
evaluated data from specimens collected at three clinical sites to
assess the accuracy of the test. The data demonstrated that the
diagnostic accuracy of the test is greater than 95%.
Along with this authorization, the FDA is establishing criteria,
called special controls, that test developers must meet for tests
of this type, including requirements relating to labeling and
performance testing. These special controls, when met along with
general controls, provide a reasonable assurance of safety and
effectiveness for tests of this type. This action also creates a
new regulatory classification, which means that subsequent devices
of the same type with the same intended use may go through the
FDA's 510(k) pathway, whereby devices can obtain clearance by
demonstrating substantial equivalence to a predicate device.
The FDA granted marketing authorization of the AmplideX Fragile
X Dx and Carrier Screen Kit to Asuragen Inc.
Additional Resources:
- FDA: Medical Devices
- FDA: Office of In Vitro Diagnostics and Radiological
Health
- Evaluation of Automatic Class III Designation (De Novo)
Summaries
Media Contact: Megan
McSeveney, 240-402-4514
Consumer Inquiries: DICE or 888-INFO-FDA
The FDA, an agency within the U.S. Department
of Health and Human Services, protects the public health by
assuring the safety, effectiveness, and security of human and
veterinary drugs, vaccines and other biological products for human
use, and medical devices. The agency also is responsible for the
safety and security of our nation's food supply, cosmetics, dietary
supplements, products that give off electronic radiation, and for
regulating tobacco products.
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SOURCE U.S. Food and Drug Administration