Khadija, age 9, was diagnosed with MMA through prenatal screening
Khadija, age 9, was diagnosed with MMA through prenatal screening. In addition to Khadija, Irfan and Farheen Patel have a son, Yusef, also affected with MMA and two other children, Mariam, age 11, and Ibrahim, age 7, both of whom are healthy.
Though Khadija has the same genetic mutation as her big brother Yusef, her childhood has been even more difficult. Put on a restricted diet at birth, Khadija maintained stable health for her first year. Then, suddenly, her system went haywire. For years, she was in the hospital nearly every month with metabolic crises.
As Irfan puts it: “We went through some very stressful periods.”
Two years ago, Khadija had a liver transplant. Since then, her metabolite levels have stabilized. But her muscle tone remains low. She’s very small for her age. And she’s well behind her peers in school.
Methylmalonic acidemia, or MMA, is a rare and life-threatening genetic disorder, affecting 1 in 25,000 to 50,000 newborns. A mutation in the MUT gene prevents the body from properly processing certain fats and proteins. As a result, toxic metabolites accumulate in the liver, in muscle tissue and in the brain. Symptoms include vomiting, lethargy, seizures, developmental delays and organ damage.
Read more about how LogicBio is working to help people living with MMA.
The Patels, who live in suburban Delaware, have connected with other families dealing with MMA through the Organic Acidemia Association and online support groups. Irfan often tells parents that he’s learned not to plan, or even think, too far ahead. He knows from experience that MMA is unpredictable and precarious. “We just live in the moment,” he says.
“What keeps me and my wife going is our two warriors,” Irfan says. “If they can get up every day and go about their days, why wouldn’t we?”
A surprise diagnosis
A few years ago, Irfan and Farheen got tested at the National Institutes of Health. Irfan was diagnosed with an exceptionally rare form of organic acidemia, a cluster of diseases that includes MMA. The researchers told him to be alert for potential neurological issues as he ages but couldn’t give him more specific advice. Only about a dozen cases of the same mutation have been reported in the scientific literature.
“I told my wife, ‘I’m sorry you married me when I carry this rare gene,” Irfan recalls. But for himself, he felt no sorrow. On the contrary: “When I was diagnosed, I was the happiest person on earth,” he says, “because I had something in common with my kids.”
Our development program:
LB-001 is an investigational, first-in-class pediatric genome editing therapy designed to save lives and prevent severe disabilities through early intervention. LB-001 uses GeneRide to incorporate a functioning version of the faulty MUT gene into the genome of MMA patients.
For questions and updates regarding our LB-001 program, email email@example.com.