Home/Rare Diseases/Rett Syndrome

Neurological & Neuromuscular

Rett Syndrome

Also called Rett's syndrome, RTT

Rett syndrome is a rare X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MeCP2), essential for normal brain development and function. Infants with Rett syndrome develop normally for the first 6-18 months, achieving normal developmental milestones.

...active trials

Live from ClinicalTrials.gov

View trials below

About trials for Rett Syndrome

Gene therapy approaches for Rett syndrome are in clinical trials, including MECP2 gene replacement therapy delivered to the brain. These early-stage studies show promise for halting or reversing neurological decline.

Try Match Me →

About Rett Syndrome

Rett syndrome is a rare X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MeCP2), essential for normal brain development and function. Infants with Rett syndrome develop normally for the first 6-18 months, achieving normal developmental milestones. Then developmental regression occurs, characterized by loss of purposeful hand skills (replaced by stereotypic hand movements like hand wringing, hand clapping, or hand-to-mouth movements), loss of language and communication abilities, autistic-like behaviors, and progressive motor problems including ataxia, apraxia, and gait abnormalities. Seizures develop in 60-80% of patients. Heart rhythm abnormalities and breathing problems are common. Girls are usually non-ambulatory by age 10, though lifespan can extend into adulthood. Since affected boys typically die in utero or infancy, Rett syndrome predominantly affects girls.

Common Symptoms

  • Developmental regression around age 6-18 months
  • Loss of purposeful hand skills and replacement with repetitive hand stereotypies
  • Loss of language and communication skills
  • Ataxia, gait abnormalities, and movement disorders
  • Seizures in 60-80% of patients
  • Autism-like behaviors in early regression phase

Who It Affects

Almost exclusively affects girls and women; affected males are rare and typically more severely affected. Mutations in MECP2 gene on X chromosome. De novo mutations in 99% of cases, so family history is rare. Symptoms typically appear ages 6-18 months after normal development.

Getting Involved in Clinical Trials

Gene therapy approaches for Rett syndrome are in clinical trials, including MECP2 gene replacement therapy delivered to the brain. These early-stage studies show promise for halting or reversing neurological decline. The International Rett Syndrome Foundation (IRSF) and patient registries provide information on clinical trials. Discuss with your neurologist about potential trial eligibility, particularly gene therapy studies. Additional trials are evaluating trofinetide, which enhances neuroplasticity and has shown benefit in slowing decline. Early supportive care including seizure management, respiratory support, and physical/occupational therapy optimizes outcomes and quality of life.

Trusted Sources

Active Clinical Trials for Rett Syndrome

Finding trials for Rett Syndrome...

Related Neurological & Neuromuscular Conditions

Neurological & Neuromuscular

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginn...

Neurological & Neuromuscular

Spinal Muscular Atrophy

Spinal muscular atrophy is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord, causing p...

Neurological & Neuromuscular

Myasthenia Gravis

Myasthenia gravis is a chronic autoimmune neuromuscular disorder causing muscle weakness and rapid fatigue. Antibodies a...