MEDICINE

This child was treated for a rare genetic disease while in the womb

A healthy infant girl who has been treated for a rare genetic disease. For the first time with the disease, she received treatment for it before she was born.

Sixteen-month-old Isla has Pompe disease, which begins in infancy. It is an inherited disease that causes organ damage that begins before birth. Babies born with Pompe disease have an enlarged heart and weak muscles. If left untreated, most infants die before they are two years old. Treatment is usually started after birth, but it does not prevent irreversible and potentially fatal organ damage that occurs in the womb.

Ayla was treated while still in the womb as part of an early-stage clinical trial. Today, infants have normal hearts and are undergoing developmental milestones, including walking. Her success shows that prenatal treatment for the disease can prevent organ damage and improve a baby’s life, researchers said Nov. 9. New England Journal of Medicine.

“This is a big step forward,” said Bill Peranteau, a pediatric and fetal surgeon at the Children’s Hospital of Philadelphia.

Infantile-onset Pompe disease is a rare condition that affects less than 1 in 138,000 babies born worldwide. It is caused by genetic alterations that either lower levels of an enzyme called acid alpha-glucosidase or GAA, or prevent the body from making it at all.

Inside cellular structures called lysosomes, GAA converts the complex sugar glycogen into glucose, the body’s primary energy source. Without GAA, glycogen can build up to dangerous levels and damage muscle tissue, such as the heart and muscles that help you breathe.

Some people can develop Pompe disease later in life, or have a less severe version without an enlarged heart, but Isla was diagnosed with the most severe form. body does not make GAA. Replenishing the deficient enzyme with IV fluids can reduce glycogen storage. especially if treatment is started soon after birth (SN: April 26, 2004).

Early studies in mice suggested that prenatal treatment showed promise in suppressing Pompe-like disease. So Jennifer L. Cohen, a pediatric geneticist at Duke University School of Medicine, and her colleagues began an early-stage clinical trial targeting Pompe disease and seven of her similar conditions, commonly called lysosomal storage diseases.

The team began treating Ayla with an umbilical vein infusion of GAA when her mother was 24 weeks pregnant. Her mother said she had one in two weeks, a total of six. After her delivery, the medical team treated Isla with intravenous fluids weekly, and she will need treatment for the rest of her life.

Cohen said the treatment was safe for both mother and baby. However, until more patients are treated and monitored in trials, it is unclear whether this prenatal enzyme supplementation will always be a safe and effective option. Two patients are being treated in this trial, but it’s too early to know how they’re doing.

Researchers are also investigating in utero treatments for other rare genetic disorders, such as the blood disorder alpha thalassemia. And in 2018, researchers reported three children who were successfully treated for sweating disorders before they were born.

Such approaches have the potential to treat other rare diseases in the future, says Peranteau. However, it is important that newly developed treatments are first shown to be safe and work when administered after birth before being tried in utero.

So far, it’s unclear how Ira and other treated patients will fare long-term, says Cohen. I think it will be very important to see how she does, especially in the first five years.”

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