For our community, this represents a concrete opportunity to access a treatment that can improve the quality of life for many children and adolescents with achondroplasia. We encourage families of children with achondroplasia to seek medical consultation—even during pregnancy—that provides reliable, evidence-based information from doctors trained in the natural history of the condition and in the new advances that science offers to new generations of patients,” they added. The new drug demonstrated in an extensive Phase II and III clinical trial program an increase in annualized growth velocity (VCA), comparable to the VCA of children without achondroplasia, while the new therapy proved to be effective and have a favorable safety profile in an international randomized study that included 121 children aged 5 to 17 with achondroplasia from 24 medical centers in 7 countries (Australia, Germany, Japan, Spain, Turkey, the United States, and the United Kingdom). This condition originates from a pathogenic variant of a gene responsible for growth, and more than 80% of children with achondroplasia have parents of average height and present the condition as a result of a spontaneous pathogenic variant in that gene. The global incidence rate of achondroplasia is approximately 1 case per 25,000 newborns, which in Argentina would represent about 18 new diagnoses each year, while it is estimated that worldwide, about 250,000 people live with achondroplasia. Now, the first medication specifically designed for the treatment of achondroplasia is already available in Argentina. It greatly improves many of the characteristic effects of the disease, represents a significant advance, and is the product of an innovative approach in molecular genetics from its developer, BioMarin Pharmaceutical, as—after more than a decade of scientific research—it managed to target the underlying cause of achondroplasia. In recent months, given the success demonstrated by the new drug, called vosoritida, patients could obtain it through the Exceptional Access Regime for Unregistered Drugs (RAEM), but as of today, it is commercially available, and it is expected that this will facilitate access for people with achondroplasia and their families. How the treatment works The treatment consists of a daily subcutaneous injection administered by a trained caregiver. It is indicated as the first-line therapeutic treatment for children with achondroplasia from 4 months of age until the patient's growth plates close, which occurs between the ages of 16 and 18. It is a medication that was officially presented in 2021 and is currently approved and available also in the United States, Europe, Japan, Australia, and Brazil, among other countries. We are confident that this approval will facilitate access, reducing the bureaucracy and barriers that have so often delayed urgent decisions.” Meanwhile, María Laura Fragnito, mother of Santi—a patient with achondroplasia—and founder of Acondroser, recently created to provide support and information to patients and families, said: “We received a tentative diagnosis during the pregnancy, and when my husband and I found out that one of the babies (we have twins) was going to have health challenges, the impact was profound. Today we have a therapy that allows us to significantly modify the course of the disease. Julieta De Víctor, a specialist in genetics and head of the Genetics Service at the Eva Perón Interzonal Hospital (ex Castex) in the town of San Martín, Buenos Aires Province, stated that previously treatments “focused on the consequences caused by achondroplasia, but not on the causes.” “Accompanying this process is deeply gratifying and reaffirms the importance of precision medicine, which is the future,” she said. Meanwhile, Andrea Fraschina, president and founder of the Argentine Achondroplasia Civil Association (ACONAR), stated: “We celebrate that this new therapy is now officially available in the country. Florencia Pabletich, a specialist in medical genetics and head of the Medical Genetics Service at the Private University Hospital of Córdoba, indicated: “The official availability of vosoritida in Argentina represents a transcendent advance for our patients with achondroplasia and for their families. For the first time, we can offer children and their families a medication aimed at changing patterns that seemed insurmountable. To date, more than 3,800 patients in 55 countries. It is a state-of-the-art drug and is aimed at a relatively small group of patients, but the laboratory states that they are in continuous conversations with health authorities and the rest of health system funders to find effective strategies that allow all those who need this treatment to receive it in a timely manner. It is not a cure, but it represents a hugely important advance and not only allows for an increase in height but also significantly reduces the impact of many associated comorbidities, considerably improving the quality of life,” she affirmed. Dr. María Laura Fragnito, mother of Santi—a patient with achondroplasia—and founder of Acondroser, recently created to provide support and information to patients and families, said: “We received a tentative diagnosis during the pregnancy, and when my husband and I found out that one of the babies (we have twins) was going to have health challenges, the impact was profound. Today we have a therapy that allows us to significantly modify the course of the disease. Julieta De Víctor, a specialist in genetics and head of the Genetics Service at the Eva Perón Interzonal Hospital (ex Castex) in the town of San Martín, Buenos Aires Province, stated that previously treatments “focused on the consequences caused by achondroplasia, but not on the causes.” “Accompanying this process is deeply gratifying and reaffirms the importance of precision medicine, which is the future,” she said. Meanwhile, Andrea Fraschina, president and founder of the Argentine Achondroplasia Civil Association (ACONAR), stated: “We celebrate that this new therapy is now officially available in the country. Florencia Pabletich, a specialist in medical genetics and head of the Medical Genetics Service at the Private University Hospital of Córdoba, indicated: “The official availability of vosoritida in Argentina represents a transcendent advance for our patients with achondroplasia and for their families. For the first time, we can offer children and their families a medication aimed at changing patterns that seemed insurmountable. To date, more than 3,800 patients in 55 countries. It is a state-of-the-art drug and is aimed at a relatively small group of patients, but the laboratory states that they are in continuous conversations with health authorities and the rest of health system funders to find effective strategies that allow all those who need this treatment to receive it in a timely manner. It is not a cure, but it represents a hugely important advance and not only allows for an increase in height but also significantly reduces the impact of many associated comorbidities, considerably improving the quality of life,” she affirmed. Dr. María Laura Fragnito, mother of Santi—a patient with achondroplasia—and founder of Acondroser, recently created to provide support and information to patients and families, said: “We received a tentative diagnosis during the pregnancy, and when my husband and I found out that one of the babies (we have twins) was going to have health challenges, the impact was profound. Today we have a therapy that allows us to significantly modify the course of the disease. Julieta De Víctor, a specialist in genetics and head of the Genetics Service at the Eva Perón Interzonal Hospital (ex Castex) in the town of San Martín, Buenos Aires Province, stated that previously treatments “focused on the consequences caused by achondroplasia, but not on the causes.” “Accompanying this process is deeply gratifying and reaffirms the importance of precision medicine, which is the future,” she said. Meanwhile, Andrea Fraschina, president and founder of the Argentine Achondroplasia Civil Association (ACONAR), stated: “We celebrate that this new therapy is now officially available in the country. Florencia Pabletich, a specialist in medical genetics and head of the Medical Genetics Service at the Private University Hospital of Córdoba, indicated: “The official availability of vosoritida in Argentina represents a transcendent advance for our patients with achondroplasia and for their families. For the first time, we can offer children and their families a medication aimed at changing patterns that seemed insurmountable. To date, more than 3,800 patients in 55 countries. It is a state-of-the-art drug and is aimed at a relatively small group of patients, but the laboratory states that they are in continuous conversations with health authorities and the rest of health system funders to find effective strategies that allow all those who need this treatment to receive it in a timely manner. It is not a cure, but it represents a hugely important advance and not only allows for an increase in height but also significantly reduces the impact of many associated comorbidities, considerably improving the quality of life,” she affirmed.
