Steve Bryson, PhD,  science writer—

Bone mineral density, an indicator of bone strength, is significantly lower in girls and young women with Rett syndrome compared with healthy girls and women of the same age, a study shows. Reduced bone mineral density was tied to small body size, impaired mobility, and the use of the…

NLX-101 improves breathing and cognitive function in a female mouse model of Rett syndrome, a study found. The potential therapy activates the receptors that bind serotonin, a signaling molecule found at low levels in the brains of Rett patients. “This work provides compelling evidence of the therapeutic potential of…

One and a half years of daily Daybue (trofinetide) treatment safely improved communication, eye contact, and hand use among girls ages 2-4 with Rett syndrome, according to the final published results of the DAFFODIL trial, which tested the approved therapy in the youngest of patients. Although most patients…

Computer modeling confirms the weight-based dosing strategy for Daybue (trofinetide) to treat people with Rett syndrome, ages 2 and older. That’s according to two, back-to-back studies published separately in Advances in Therapy. Daybue, from Acadia Pharmaceuticals, is the first therapy approved in the U.S. for people with…

Defects in how cells degrade old or damaged components, a cellular recycling process called autophagy, contribute to the dysfunction of nerve cells in Rett syndrome, a lab study reports. Treating mice in a Rett disease model with trehalose, a naturally occurring molecule known to induce autophagy, restored the recycling…

A research team has identified Rett syndrome-specific molecules that regulate gene activity, called microRNAs, that are associated with the growth of patient-derived brain cells and may serve as biomarkers for monitoring Rett progression. Using 3D organoids that mimic the brain, the team identified these microRNA fingerprints within extracellular vesicles…

A girl with Rett syndrome participating in a clinical trial testing gene therapy NGN-401 experienced a serious, treatment-related immune reaction. The patient, who received a high dose of NGN-401 in an ongoing Phase 1/2 trial (NCT05898620), experienced signs of systemic (body-wide) hyperinflammatory syndrome, a rare and life-threatening immune…

The first four girls with Rett syndrome treated with a low dose of Neurogene‘s gene therapy candidate NGN-401 in a clinical trial have experienced new developmental milestones and seen meaningful gains in skills, according to new interim data. Clinicians and caregivers both have confirmed the improvements seen in…

Gene mutations that cause Rett syndrome affect the function of mitochondria, the cell’s energy producers, in human astrocytes, a type of cell that supports nerve cell function, according to a new study. In fact, when healthy nerve cells took up mitochondria isolated from Rett astrocytes, their function was disrupted.

NGN-401, Neurogene‘s experimental gene therapy for Rett syndrome, was designated a regenerative medicine advanced therapy (RMAT) by the U.S. Food and Drug Administration (FDA). Based on preliminary data from an ongoing Phase 1/2 trial (NCT05898620), which is testing the gene therapy in girls with Rett, the…