Barcelona (EFE).- A year ago Marco Mateos began an exceptional and pioneering treatment in the world against ultra-rare Menkes disease. The improvement that this child, who lived against the clock, presents today, opens the door to other children affected by this copper deficiency in the body.
The start-up of a clinical trial; the possibility of opening an international reference unit for Menkes disease at the Sant Joan de Déu Hospital in Barcelona, where the treatment is carried out; and that another baby, in León, is the second in the world with this therapy are some of the fruits that Marco’s case leaves behind.
On the eve of World Rare Disease Day, we recounted the evolution of this 32-month-old boy, who suffered from severe hypotonia (lack of muscle tone and strength) and who is now able to crawl, walk with a walker and get up alone, in addition to pronouncing small sentences.
Motor and cognitive functions that he barely developed a year ago due to a multisystem disorder of metabolism generated by the alteration of the ATP7A gene that causes copper, an essential mineral for life and that we obtain from food, not to be distributed correctly by different organs, including the brain.
Marco receives a weekly subcutaneous injection with a very small amount of elesclomol-copper and continues daily with copper histidinate, a palliative treatment that he has been given since he was diagnosed on the fifth day of life, something that may also be working in his favor.
“Marco’s evolution is being very good, it’s not that he has recovered all the functions but many of them,” Dr. Francesc Palau, director of the Pediatric Institute for Rare Diseases and head of the Genetic Medicine Service of the Sant Joan de Deu Hospital.
He specifies that until the clinical trial is developed to test the safety and efficacy of this exceptional treatment that carries copper with more patients, Marco’s improvement cannot be scientifically confirmed.
“But the child is having a good evolution and, therefore, we think that it could be the molecule, elesclomol, which is changing the natural course of his disease”, he affirms.
Marco’s mother, Aurora Mateos, experiences the improvement of a child who had a short life expectancy every day: “Neurologists are left speechless, neurocognitive development is absolutely normal, even higher.”
The child understands and responds, in his own way, to Spanish, his mother tongue; to Russian, the paternal one, and to the English that he listens to at home.
At the moment, the little one has not had any episodes of copper poisoning. How long he will be able to receive this therapy is still unknown.
“Copper, in small quantities, is necessary for life, but it is also toxic and therefore we cannot always supply copper externally,” warns Dr. Francesc Palau, who points to new avenues of research such as therapy genetic.
The genetic disease has left some marks on Marco, such as pulmonary fibrosis and the need to carry, on occasions, a nasogastric tube to ensure his nutrition. The Maternal and Child Hospital of Malaga, where the family lives, does their general follow-up.
The other “Marks”
At just four months old, Reda has become the second child to be treated with elesclomol-copper after being diagnosed prenatally with Menkes disease.
Reda was born prematurely along with her twin, Rayan, also with the disorder and who was unable to overcome bronchiolitis shortly after birth. The prenatal diagnosis was possible due to the history: her older brother died when she was 3 years old.
At the University Hospital of León, this baby benefits from the exceptional treatment authorized by the Spanish Medicines Agency; the collaboration with the Sant Joan de Déu Hospital and the management of the Menkes International association chaired by Aurora Mateos.
The neuropediatrician Aquilina Jiménez assures EFE that in a month and a half of treatment she has observed how Reda fixes his gaze and smiles, and is confident of the good results as he has started therapy soon.
Like Reda and Marco, other “menkes” children from Spain and the rest of the world could be candidates for this treatment.
The pharmaceutical company Engrail, owner of the molecule, is carrying out preclinical toxicity tests in animal models to receive authorization from the American and European regulatory agencies, and to select suitable patients.
“The Sant Joan de Déu Hospital has positioned itself as a candidate to coordinate this clinical trial”, explains Palau, with the possibility of creating an international reference unit in Menkes disease that would cover the clinical trial.
The impulse of a mother
Aurora Mateos, seasoned as a United Nations consultant, is the one who has promoted, through Menkes International, this experimental treatment, whose protocol and supervision is selflessly managed by the Copperless Committee made up of twenty experts (doctors, biologists, pharmacologists, lawyers…) from twelve countries.
The starting point is a study from Texas A&M University (United States), published in May 2020 in “Science”, in which elesclomol is used to transport copper and cross the blood-brain barrier of mice with a mutation of the homologous gene. to ATP7A.
The radical change that these mice underwent, both in terms of mobility and survival, triggered arduous efforts to have it approved as an experimental treatment at Sant Joan de Déu.
“Marco is a hero and thanks to him and the experts who have accompanied us we have achieved all these results in one year”, affirms Aurora Mateos who warns that there is no time to lose to give hope to other children with Menkes disease.