Could We Treat Angelman Syndrome and Other Genetic Disorders in Utero?

In some cases, healthcare providers can identify Angelman syndrome in utero through a prenatal ultrasound or prenatal genetic testing. But could this open the door to early treatment and better outcomes? Some researchers think so.

What is Angelman Syndrome? 

Angelman syndrome is a rare neuro-genetic disorder that primarily affects the nervous system. It is typically caused by a deletion or mutation in the UBE3A gene, which is located on chromosome 15. This gene is responsible for producing a protein that is important for normal brain function. In most cases, Angelman syndrome isn’t inherited but develops through a spontaneous genetic mutation. 

Angelman syndrome may be misdiagnosed as autism or cerebral palsy. Signs of Angelman syndrome often manifest in infancy and early childhood with developmental delays, followed by seizures. Other characteristic symptoms of Angelman syndrome can include movement or balance issues, minimal to no speech, a small head size, tongue thrusting or hand-flapping, sleep disturbances, feeding difficulties, and a happy, excitable personality with frequent episodes of laughing and smiling. 

There is no cure for Angelman syndrome and people with this condition often require lifelong support. However, treatments can manage symptoms and many people with Angelman syndrome have a normal lifespan. 

In Utero ASOs as a Potential Transformative Therapeutic Option 

Medical Xpress reports the results of a study which explored the impact of prenatal treatment in mice models of Angelman syndrome. More specifically, a research team treated the mice with antisense oligonucleotides (ASOs). These short, single-stranded synthetic RNA or DNA molecules bind to specific RNA molecules, targeting diseases at the source. 

In findings published in Molecular Therapy, the study authors explain that both intracranial administration and intra-amniotic injection (i.e. the treatment being administered through amniotic fluid) were effective. Both administration methods allowed the ASO treatments to reach the brain through the cerebrospinal fluid (CSF). However, treating through amniotic fluid also allowed the therapy to reach areas in the intestines, stomach, lungs, kidneys, and liver, and allowed for higher treatment dosage than could be given through CSF alone. 

Prenatal ASO treatment also led to mice pups with higher cognitive abilities and improved motor function. Researchers believe that prenatal treatment could be more effective in reaching the brain and preventing serious symptoms that begin during fetal development. In the future, the research team hopes to evaluate this therapeutic approach in larger animal models.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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