Screening newborns for genetic diseases for which treatments exist that can prevent crippling or deadly progression, especially for rare disorders like spinal muscular atrophy, has a way to go in the United States. Only seven states require this disease to be among the dozens tested from a blood sample…
Like most families broadsided with an unexpected, rare diagnosis, my husband and I had never heard of the one attached to Jeffrey, our third baby. Spinal muscular atrophy (SMA) was completely foreign to us, so it came as another shock to learn that SMA was the leading…
As I write this column, only 11 days are left before my nonprofit organization hosts its 10th annual gala for spinal muscular atrophy. Eleven. And while 11 has always been my lucky number, as I glance at my to-do list I’m reminded there really isn’t anything lucky about it…
The European Medicines Agency (EMA) has granted orphan medicinal product designation to reldesemtiv, a potential add-on therapy for patients with spinal muscular atrophy (SMA). Reldesemtiv, developed by Cytokinetics and Astellas, is meant to complement existing SMA treatments. It is a fast skeletal muscle troponin activator…
Treating teenagers and adults with oral risdiplam, a potential therapy for spinal muscular atrophy (SMA), led to sustained increases in blood levels of the key SMN protein missing in these patients, the lead investigator for a Phase 2 clinical trial said in an interview. Claudia A. Chiriboga, MD,…
A new RNA therapy delivered by a safe adeno-associated viral (AAV) vector, like other gene therapies, may be a way to treat spinal muscular atrophy (SMA), a mouse study shows. The therapy, called ExspeU1, showed the ability to raise the levels of survival motor neuron (SMN) protein in multiple…
The U.S. Food and Drug Administration (FDA) recently announced the approval of Zolgensma (onasemnogene abeparvovec-xioi), the first-ever gene therapy to treat SMA. This amazing news has thrilled the SMA community with its possibilities! Zolgensma opens new doors for increased strength, resistance to illness, and longer lifespans. As…
Young children with spinal muscular atrophy (SMA) types 2 and 3 are at risk of severe bone fragility and can carry fractures that go unnoticed, a study found. The results, “Evolution of bone mineral density, bone metabolism and…
Dear Mom and Dad, In the wake of FDA approval of Zolgensma, jubilant feelings soar like a kite, beyond the boundaries of wonderful to the highest altitude of hope. Mom, we recently had lunch together and chatted about new SMA treatments and their incredible impact on SMA families. You…
We had no reason to doubt that our third baby, Jeffrey, would be healthy. Our other children, Matthew and Katie, were in good health, and any known “premature” deaths in our families were attributed to miscarriage. And then SMA entered the picture. We said hello and…