Raniya Scott of Naples, Florida, never intended to make medical history.
But that’s what happened on Oct. 21, 2024, when a neurologist at the University of Miami’s Miller School of Medicine administered a gene therapy for Duchenne muscular dystrophy (DMD) to both Raniya, then 15, and her 8-year-old brother, Amir Monsanto.
At that moment, Raniya became the world’s first female to receive Sarepta Therapeutics’ delandistrogene moxeparvovec-rokl (Elevidys) — a milestone in the treatment of a disease that almost exclusively affects males.
“Her doctors were shocked because Raniya is a girl, and girls never get Duchenne,” Raniya’s mother, Tannika Scott, told Rare Disease Advisor (sister brand to DMD Companion) during the recent CureDuchenne 2025 Futures conference in San Antonio, Texas. “But I feel like she’s making history, and I want to share her story.”
Scott was 16 years old when she gave birth to Raniya.
“Two of my uncles — my mom’s brothers — had Duchenne, but I didn’t know that,” she said. “My mom told me to take Raniya to get tested for diabetes, because it runs on her dad’s side of the family. The pediatrician saw that her CK [creatine kinase] levels were too high.”
Single mom with girl newly diagnosed with DMD
Further tests confirmed that Scott was a carrier of Duchenne. At the age of 2, Raniya — who had begun walking a week after her first birthday — was diagnosed with the disease itself.
“At the time, I was only 18 and a single mom doing everything for myself,” Scott said, recalling her life in Miami’s hardscrabble Liberty City neighborhood. “I felt like God was punishing me for things I had done in the past.”
After the diagnosis, Raniya’s doctor put her on steroids. At age 8, she began taking lisinopril for her heart under the care of Dr. Roberto F. Lopez-Alberola, an associate professor of neurology and pediatrics at the Miller School of Medicine.
“She was still doing things that normal kids do, but soon it became difficult for her to climb stairs. She started falling a lot, and there was nothing I could do to help,” Scott said. “The hospital could only give her medications to make the pain go away. Then Amir came along, and that’s when he got diagnosed as a baby.”
Scott said she refused an amniocentesis to determine if Amir had genetic abnormalities. Instead, she said, “I told them to wait until he’s born, and if he has DMD, I’d deal with it then.”
After Amir’s birth and his subsequent Duchenne diagnosis, she consulted with Dr. Lopez-Alberola, who in addition to his University of Miami affiliation is a neurologist at Holtz Children’s Hospital, a division of Jackson Memorial Medical Center in Miami.
‘Felt in my heart’ gene therapy was ‘right decision’
In June 2023, the U.S. Food & Drug Administration (FDA) approved the Sarepta gene therapy for patients ages 4 and 5 with a confirmed mutation in the dystrophin (DMD) gene. In June 2024, the agency broadened that approval to cover all eligible patients aged 4 years and older. Dr. Lopez-Alberola raised the possibility of gene therapy with Scott for both Raniya and Amir. Scott’s other daughter, 5-year-old Amaya, has tested negative for Duchenne.
“I didn’t tell anyone because a lot of people didn’t understand that it could possibly work,” Scott said, adding that she was well aware of the potentially serious risks of gene therapy. “But I felt in my heart that I was making the right decision. That’s all that matters. Nobody can make me feel bad about a decision that I made.”
Raniya, who’s currently attending ninth grade at a Naples high school, is not particularly open to discussing her condition. But her physician is optimistic regarding her response to the single-infusion Sarepta therapy, which costs $3.2 million.
Read more about DMD therapies
“My kids were blessed to get it,” Scott said. “Thank God we have insurance that pays for this. Can you imagine how many bake sales I would have to do to come up with that kind of money?”
“The worst-case scenario is that some patients do not regain any function. However, we may slow down the disease’s progression. That alone would be transformational,” Dr. Lopez-Alberola said in a University of Miami press release. “At Raniya’s recent appointment, she was already doing better, feeling stronger, walking more, and not relying on a wheelchair as much.”
Safety concerns, however, in July led to Sarepta agreeing to pause U.S. sales of the gene therapy for people with Duchenne. Shipments have now resumed for ambulatory patients after an FDA review.
Genetic tests helping to identify Duchenne carriers
A cardiologist at the University of Kansas School of Medicine in Kansas City, Dr. Pradeep Mammen is considered a world expert on manifesting carriers of Duchenne — or, more properly, females with dystrophinopathy.
While it’s generally accepted that DMD affects 1 in 3,500 to 5,000 male births, there’s no way to estimate a comparable figure for females, Dr. Mammen said.
“It’s very difficult to make an exact approximation of the incidence, and that’s why I’m hesitant to give a number,” he said. “It’s not that the numbers are increasing; it’s our ability to detect whether a female has a mutation. Because genetic testing has become much more prevalent, we’re identifying more and more carriers — not only in the United States, but worldwide.”
That’s because the ability to detect mutations at the molecular level has significantly advanced in the last 20 years, he said. “It’s also much cheaper now. Ten years ago it was very costly to do genetic testing. Now it’s much more affordable.”
Dr. Mammen said that between the University of Kansas and his former institution, the University of Texas Southwestern Medical Center in Dallas, he follows about 50 female carriers of Duchenne, ranging in age from 17 to 71.
“Most girls who are carriers are asymptomatic. The number of young girls that display disease like their male counterparts is very rare,” he said. “Of the 50 that I mentioned, I have just two females who are actually wheelchair‑bound, and they straddle both ends of the spectrum. One was 20 when I started seeing her; unfortunately, she passed away at 25. And my 71-year-old is also in a wheelchair.”
He added: “The vast majority of carriers are asymptomatic. There may be subtle skeletal muscle defects, but the biggest risk is developing a cardiomyopathy [a disease of the heart muscle]. I would argue that the earlier we identify a carrier, the faster we can implement therapies. Now, with molecular genetics — using CRISPR and similar molecular techniques — we can offer therapies even to carriers.”
For this reason, Dr. Mammen is pushing hard to include Duchenne in all statewide newborn screening tests, though as a cardiologist specializing in heart failure in adults, he personally does not administer gene therapies to people with Duchenne.
“Twenty years ago, we didn’t have potential therapies for DMD. Now we do, and more therapies are coming to market. So we need to screen both males and females to be able to identify them at an earlier age,” he said. “These gene therapies are going to be most effective given early in the course of the disease — as soon as they’re born, in the first couple of years. Once they become older and the damage has been done to the muscles, it’s difficult to reverse that process.”
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