Author Archives: Alice Melão

ArcherDX Enters Newborn Screening Market with Baby Genes Acquisition

ArcherDX is expanding its product portfolio with newborn and screening tests to identify carriers of genetic variants linked to different disorders, including cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. The company has acquired the genetics-based personalized medicine laboratory Baby Genes, which will operate under…

NY Study Shows Feasibility and Benefits of SMA Newborn Screening

A population-based study conducted in the state of New York demonstrates the feasibility and benefits of newborn screening for spinal muscular atrophy (SMA). Supported by these findings, researchers recommend adding SMA genetic tests to the national recommended uniform screening panel. The study, “Pilot study of population-based newborn…

New Guidelines Help Define Best Treatment Timeline for SMA Infants

A working group led by Cure SMA, and comprising 15 experts on spinal muscular atrophy, has developed new guidelines to help clinicians and caregivers decide when to administer therapy to infants with the disease. These come as a response to the recent recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children to add SMA to the Recommended Uniform Screening Panel (RUSP) of the U.S. Department of Health and Human Services. Also, since approval of the therapy Spinraza, several states have begun implementing SMA newborn screening, reinforcing the need for new treatment guidelines. Several pre-clinical and clinical studies have demonstrated that early treatment is critical to controlling SMA development and progression rates. Beginning treatment before the onset of muscle weakness and nerve cells' irreversible damage has proven to be an efficient approach. However, symptoms' onset and diagnosis seems to vary according to different SMA types, which may hamper decisions about treatment. Implementation of newborn screenings targeting SMA could dramatically change that situation, promoting early diagnosis and making early intervention possible. The new guidelines are based on the knowledge that disease severity is directly correlated with the underlying genetic alteration that promotes SMA. Experts recommend that all infants with confirmed SMA type 1 or 2 — the most common and severe forms of the disease — who have only two or three copies of the SMN2 gene should receive immediate treatment with an SMN up-regulating therapy. For patients with only one copy of SMN2, treatment should be at the physician's discretion if the infant is symptomatic. However, if the infant is still in a pre-symptomatic stage treatment should begin immediately. For patients with four or more SMN2 copies, researchers did not reach a treatment guideline consensus. As such, they developed a plan for screens and tests that allow appropriate monitoring and accurate determination of symptoms' onset. These patients should be followed by a neuromuscular specialist who will warrant the precise quantification of the number of SMN2 copies they have. Also, routine evaluations should be performed every three to six months until the patient reaches 2 years old, after which monitoring should done every six to 12 months. During this time parents and caregivers also should be on the lookout for every minor alteration and address new symptoms with physicians. Those symptoms include: changes in movement, feeding, or breathing patterns; change in voice; increased fatigue; motor decline or loss of function, or; failure to thrive. These guidelines, as well as the effort made to raise awareness about the importance of SMA newborn screenings, were supported by the SMA Newborn Screening Coalition, which includes Biogen, AveXis, and Genentech/Roche.