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Children with Rett syndrome whose disturbed breathing eased after treatment with mecasermin, a lab-made version of the growth hormone IGF-1, had unique gene activity profiles before and in response to treatment, according to an analysis of Phase 1 trial data. These findings suggest that different molecular subgroups were evident at…
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A recent meal or snack does not affect the pharmacological profile of trofinetide, an experimental oral treatment for Rett syndrome, according to findings from a Phase 1 study in healthy adults. Food can affect how a drug moves through a patient’s body, or its pharmacological profile, the researchers…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
Columnist Jacqueline Babiarz’s daughter with Rett syndrome prefers the school year to summer because it offers more social opportunities.
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Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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