Investigational therapy trofinetide showed promising safety and efficacy results as a treatment for children and adolescents with Rett syndrome, according to recent data from a Phase 2 clinical trial. A Phase 3 trial is now planned for the second half of this…
Discovery and development of therapies for Rett syndrome requires better preclinical research practices and study design to raise the chances of success in the clinic, according to a study reviewing current therapy development efforts. The review study, “A Coordinated Attack: Rett…
Clinicians should provide more support and information to parents of girls with Rett syndrome throughout their entire rehabilitation program, according to a study. The study, “Parents’ perception of health care services for girls with Rett syndrome,” was published in the journal…
One injection per year of zoledronic acid (sold under the brand name Reclast) can help prevent bone deterioration and fractures in children with Rett syndrome, a clinical study shows. The study, “Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and…
The first patient has been dosed in Anavex Life Sciences’ Phase 2 trial evaluating Anavex 2-73 for the treatment of Rett syndrome. The trial (NCT03758924) assessing the safety, tolerability, and efficacy of Anavex 2-73 in 15 adults (18 and older) with Rett syndrome is going on at three clinical sites in the…
Genetic screening for mosaic mutations — those present in only some cells in the body — may be useful to understand disease development and severity in patients with Rett syndrome and other rare genetic disorders, a case report study says. The study, “De novo mosaic MECP2 mutation in a…
A new study reports an increasing trend in the number of prenatal genetic tests to detect spontaneous mutations that can cause conditions such as Rett syndrome. The study, “Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10‐year period,” was published in Molecular…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
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