About Rett Syndrome

Rett syndrome is an X-linked, progressive, neurodevelopmental disorder. Rett syndrome has an estimated incidence of 1 in 10,000 live female births, making it one of the most common genetic causes of developmental and intellectual impairment in females. The incidence in males is currently unknown.

Rett syndrome is caused by a mutation in the MECP2 gene that leads to deficiency of the methyl cytosine binding protein 2 (MeCP2), an important protein responsible for normal neural development and signaling in the brain and other parts of the nervous system.

Females with Rett syndrome typically acquire early gross motor skills such as rolling and sitting with support up until 6-18 months of age. However, females then experience rapid regression of previously acquired milestones including speech, gross and fine motor skills, and develop stereotypical, repetitive hand movements that prevent them from purposeful hand movement or function. Over time females may develop muscle contractures, rigidity, and debilitating scoliosis, along with periods of recurrent seizures, burdensome gastrointestinal abnormalities, breathing abnormalities and cognitive decline.

Currently, there are no approved disease modifying therapies, and treatment for Rett syndrome includes symptom management and supportive care.

Neurogene’s Rett syndrome development program is the first to employ the EXACT regulation technology, and is in the IND enabling stage.

Resources

Rett Syndrome Research Trust

The Rett Syndrome Research Trust has a singular mission: a cure for Rett syndrome. Our remarkable progress is made possible by the support, passion, and commitment of Rett families around the world.

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International Rett Syndrome Foundation

To accelerate full spectrum research to cure Rett syndrome and empower families with information, knowledge and connectivity.

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Reverse Rett

Reverse Rett is a patient advocacy and research organisation focused on delivering treatments and a cure for Rett syndrome to everyone affected.

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Connecting families with the latest Neurogene content and specific resources related to patient communities.

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Additional Resources

Click here for more advocacy organizations and resources in the rare disease community.

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