Screening for Critical Congenital Heart Disease at Birth Saves Lives

New study confirms a dramatic decrease in infant deaths

December 5, 2017

Infant deaths from critical congenital heart disease (CCHD) decreased more than 33 percent in eight states that mandated screening for CCHD using a test called pulse oximetry. In addition, deaths from other or unspecified cardiac causes decreased by 21 percent.

Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby’s blood and the baby’s pulse rate. Low levels of oxygen in the blood can be a sign of a CCHD.

CCHD screening nationwide could save at least 120 babies each year, according to a new study published in the Journal of the American Medical Association. This study is the first look at the impact of state policies to either require or recommend screening of infants for CCHD at birth.

The study, Association of U.S. State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Infant Cardiac Deaths,shows that states that required their hospitals to screen newborns with pulse oximetry saw the most significant decrease in infant deaths compared with states without screening policies. Voluntary policies or mandated policies not yet implemented were not associated with reductions in infant death rates. The encouraging news is that 47 states and D.C. now have mandatory screening policies in place and one additional state, California,  requires screening be offered. These results serve as a reminder to hospitals across the country to remain vigilant in their screening for CCHD.

“More families are able to celebrate special milestones in a child’s life thanks to the early identification and treatment of heart defects,” said CDC Director Brenda Fitzgerald, M.D. “Screening newborns for critical congenital heart disease in every state, tribe, and territory will save lives and help babies thrive.”

About 1 in every 4 babies born with a congenital heart defect has CCHD and will need surgery or other procedures in the first year of life. In the U.S., about 7,200 babies born each year have one of seven CCHDs. Without screening by a pulse oximetry reading, some babies born with a congenital heart defect can appear healthy at first and be sent home with their families before their heart defect is detected.

CDC works to identify causes of congenital heart defects, find opportunities to prevent them, and improve the health of people living with these conditions.

For more information on congenital heart defects, visit https://www.cdc.gov/ncbddd/heartdefects/index.html and https://www.cdc.gov/features/congenitalheartdefects/.

FDA Approves First Drug For Spinal Muscular Atrophy

December 23, 2016

SILVER SPRINGS, MD – The U.S. Food and Drug Administration today approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement. Spinraza is an injection administered into the fluid surrounding the spinal cord.

“There has been a long-standing need for a treatment for spinal muscular atrophy, the most common genetic cause of death in infants, and a disease that can affect people at any stage of life,” said Billy Dunn, M.D., director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research. “As shown by our suggestion to the sponsor to analyze the results of the study earlier than planned, the FDA is committed to assisting with the development and approval of safe and effective drugs for rare diseases and we worked hard to review this application quickly; we could not be more pleased to have the first approved treatment for this debilitating disease.”

SMA is a that causes weakness and muscle wasting because of the loss of lower motor neurons controlling movement. There is wide variability in age of onset, symptoms and rate of progression. Spinraza is approved for use across the range of spinal muscular atrophy patients.

The FDA worked closely with the sponsor during development to help design and implement the analysis upon which this approval was based. The efficacy of Spinraza was demonstrated in a clinical trial in 121 patients with infantile-onset SMA who were diagnosed before 6 months of age and who were less than 7 months old at the time of their first dose. Patients were randomized to receive an injection of Spinraza, into the fluid surrounding the spinal cord, or undergo a mock procedure without drug injection (a skin prick). Twice the number of patients received Spinraza compared to those who underwent the mock procedure. The trial assessed the percentage of patients with improvement in motor milestones, such as head control, sitting, ability to kick in supine position, rolling, crawling, standing and walking.

The FDA asked the sponsor to conduct an interim analysis as a way to evaluate the study results as early as possible; 82 of 121 patients were eligible for this analysis. Forty percent of patients treated with Spinraza achieved improvement in motor milestones as defined in the study, whereas none of the control patients did.

Additional open-label uncontrolled clinical studies were conducted in symptomatic patients who ranged in age from 30 days to 15 years at the time of the first dose, and in presymptomatic patients who ranged in age from 8 days to 42 days at the time of first dose. These studies lacked control groups and therefore were more difficult to interpret than the controlled study, but the findings appeared generally supportive of the clinical efficacy demonstrated in the controlled clinical trial in infantile-onset patients.

The most common side effects found in participants in the clinical trials on Spinraza were upper respiratory infection, lower respiratory infection and constipation. Warnings and precautions include low blood platelet count and toxicity to the kidneys (renal toxicity). Toxicity in the nervous system (neurotoxicity) was observed in animal studies.

The FDA granted this application fast track designation and priority review. The drug also received orphan drug designation, which provides incentives to assist and encourage the development of drugs for rare diseases.

The sponsor is receiving a rare pediatric disease priority review voucher under a program intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases. A voucher can be redeemed by a sponsor at a later date to receive priority review of a subsequent marketing application for a different product. This is the eighth rare pediatric disease priority review voucher issued by the FDA since the program began.

Spinraza is marketed by Biogen of Cambridge, Massachusetts and was developed by Ionis Pharmaceuticals of Carlsbad, California.

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.