Fewer Than 40 People Worldwide Share 4-Year-Old Felix Kennedy’s Disease, So His Peachtree City Mom Started a Nonprofit to Fund a Gene Therapy

Fewer than 40 cases of COX20-related mitochondrial complex IV deficiency have been documented anywhere in the world, and 4-year-old Felix Kennedy of Peachtree City, Georgia, is one of them. His mother, Shelby Kennedy, started a nonprofit called Mighty Mito to raise money for an experimental gene therapy that has so far been tested only in mice, The Citizen reported on Nov. 5.

The disease has no approved treatment or cure. The family learned the diagnosis in June, and within months Kennedy had built an organization with a board, a website and a funding target.

Fewer Than 40 Documented Cases and a Diagnosis in June

Felix was diagnosed in June with COX20-related mitochondrial complex IV deficiency, according to The Citizen.

Felix attends physical, occupational and speech therapy four days a week. The disease affects movement and balance and can affect speech and swallowing, and it worsens over time. Kennedy is a stay-at-home mother.

Kennedy told the newspaper that her son needs her, that other children with the disease need someone too, and that no one else was going to take the work on for the family. She asked how she could not start the nonprofit.

What Mitochondria Do and Why Their Failure Is So Far-Reaching

Mitochondria are the structures inside nearly every cell that produce energy. The United Mitochondrial Disease Foundation says they are responsible for creating 90 percent of the energy needed to sustain life, and that when they cannot turn food and oxygen into usable energy, cells can be injured or die. When that happens throughout the body, organ systems can begin to fail.

The foundation says about 1 in 5,000 people has a genetic mitochondrial disease, and that roughly 1,000 to 4,000 children are born with one in the United States each year. The heart, brain and muscles are most affected, with symptoms ranging from developmental delays and seizures to muscle weakness and poor weight gain. The foundation calls three or more malfunctioning organ systems a red flag for the disease and says diagnosis typically includes DNA testing, and it notes that the effectiveness of current treatments varies greatly.

The National Library of Medicine’s MedlinePlus adds that the severity varies widely, that muscle and nerve cells need a lot of energy and so are often involved, and that there are no cures. Treatments focus on relieving symptoms and slowing progression, and can include physical therapy, vitamins and supplements, special diets and medications.

Where COX20 Fits Inside the Larger Disease Family

Felix’s condition falls into that larger family, but it is far rarer than most of it. Complex IV is cytochrome c oxidase, a part of the respiratory chain cells use to make energy, according to the GeneReviews entry on mitochondrial disorders, which adds that nuclear genes provide the proteins needed to assemble and maintain that chain. The Citizen ties Felix’s illness to the COX20 gene.

Because so few people share the diagnosis, there is no approved gene therapy for it. Mighty Mito’s website states that no approved gene therapy currently exists for COX20 deficiency and describes Felix as a four-year-old with an ultra-rare disorder caused by changes in that gene.

That gap is what Kennedy is trying to close, and Mighty Mito exists to speed gene therapy research for ultra-rare mitochondrial diseases, starting with COX20 deficiency.

A Gene Therapy That Has Worked in Mice

Researchers at the University of Massachusetts Chan Medical School, identified by The Citizen as Dr. Gao and Dr. Gessler, are testing an experimental gene therapy in mice. Treated mice showed improved movement. The treatment has not been shown to be safe or effective in people, and dosing, delivery and safety remain to be worked out.

The U.S. Food and Drug Administration describes gene therapy as a technique for treating or curing disease by modifying a person’s genes. It can work by replacing a disease-causing gene with a healthy copy, turning off a gene that malfunctions, or adding a new or modified gene. The agency also says human studies in the United States need an investigational new drug application before they begin, and that marketing a product requires an approved biologics license application.

Mice are an early step in that path. Mighty Mito’s site lists the stages ahead as research, preclinical studies, manufacturing, regulatory preparation and clinical development.

Mighty Mito and the $10 Million Question

The Citizen reports that Kennedy founded Mighty Mito within months of Felix’s diagnosis. The nonprofit has a board and a website at mightymito.org, and its 501(c)(3) application was pending when The Citizen published its story.

According to the paper, about $10 million is needed to reach human trials. The first goal is $250,000 to keep the UMass Chan research moving. A second goal is $75,000 for a separate project that would screen existing medications and supplements for possible treatment options, and the group is also pursuing a sponsored research agreement with UMass Chan.

The organization’s own site frames the larger campaign as a $10 million philanthropic effort to fund the next stage of preclinical development and lay groundwork for eventual clinical trials. Its stated mission is to move promising genetic therapies from the lab to patients faster.

Donations, merchandise and more information are available at mightymito.org. The Citizen’s report does not promise that the therapy will reach children, and neither does the nonprofit. What exists today is a diagnosis shared by fewer than 40 people, a promising result in mice and a mother who decided to build the organization herself.

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This article was produced with AI assistance and edited for accuracy against the sources linked above.

Image: Tony Bernard – CC BY-SA 2.0/Wikimedia Commons