A 3-year-old boy in Scio might be the only person in Oregon to be diagnosed with what his parents call a “devastating” genetic neurodegenerative disease known as Spastic Paraplegia Type 50 (SPG50), and they are fighting to raise at least $1 million for a clinical trial that could stop progressive damage.
Lincoln, 3, was diagnosed with the disease in October after his parents, Cody and Jordan Medeiros, had genetic testing performed.
Jordan explained they became aware their son had a brain abnormality while she was still pregnant with him, but a cause could not be identified. When he was 6 months old, Lincoln was diagnosed with microcephaly, global developmental delay and low muscle tone. Later, an MRI at Oregon Health & Science University revealed other structural abnormalities of the brain, but a cause was still unknown.
After that point was when the family was offered genetic testing which revealed both parents have a mutation in a particular gene (AP4M1) that was passed down to Lincoln, causing the proper function of the AP-4 protein to be unable to be carried out, Jordan said.
“We were initially relieved to have an answer,” she said. “Then I began to do some online research and what I read was devastating.”
SPG50 causes severe developmental delay, seizures and paraplegia that advances to quadriplegia.
“Without treatment, a wheelchair or being bed-bound is Lincoln’s future,” the Medeiros’ said.
It is reported that there are fewer than 100 people in the world with SPG50, and that the only family in Canada whose child has the disease was the first to raise several million for the first clinical trial in 2022. That family, the Pirovolakis, led the effort to develop a gene therapy for SPG50 and placed their son, Michael, as the first person in the trial.
“(Mr. Pirovolakis’) goal has always been to move this through clinical trials as quickly as possible to get it FDA-approved so that it is available for all 100 children in the world who so desperately need it, but the funding is lacking to continue forward,” the Medeiros’ said.
The parents said treatment through the clinical trial has so far been given to three other children around the world and “has shown tremendous promise.” The FDA approved the trial for Phase III to deliver eight more doses to affected children, and Lincoln is one of three children in the US eligible for the treatment.
“This treatment will stop the progression of the disease entirely,” they said. “The earlier it is given, the better the outcome. It cannot reverse damage that has already been done.”
The three American families – including the Medeiros’ – fighting to raise enough money to pay for the trial have so far have raised 7.5% ($75,000) of the needed funds to move that trial forward.
“The doses have been manufactured, they are ready to be given to children; however, they will sit in a fridge until enough money can be raised to pay the hospital (NIH in Maryland) to run the study,” the Medeiros’ said.
Lincoln has been working with therapists since he was 18 months old and continues to learn new skills, but they are skills that he will lose over time, Jordan said. She reported that most children with SPG50 have severe developmental delay, seizures and are non-verbal, and they are often paraplegic by age 10 and quadriplegic by age 20.
“Lincoln is fortunate that he can walk; many children with SPG50 do not walk without assistive devices,” Jordan said. “He does have an impaired gait – he has poor balance, is uncoordinated and he has muscle tightness leading him to walk on his tip-toes. Without treatment, it is likely he will begin to require a walker by the age of 5.”
Due to the fact so few children across the world share the disease, large biotech companies will not invest in the development of its treatment, she said. She credits Terry Pirovolakis for leading the way to develop gene therapy.
“It pains us to know that eight more doses of this drug have been manufactured and are ready to be given to children, but it will not happen until the money can be raised to pay the hospital to run the study,” Jordan said. “(It) could be another one to two years before the money is raised to move forward. By then, Lincoln’s mobility will likely be worse.”
To learn more about Lincoln, his family and their mission, or to donate, visit LincolnsLight.org.