What is spastic paraparesia 50?
Spastic paraparesis type 50 (SPG50) is a rare disease that affects both the development and the nervous system, and progresses slowly over time. This condition is characterized by several important symptoms including global developmental delay, moderate to severe intellectual disability, difficulty speaking or even complete absence of speech. In addition, affected individuals may have microcephaly (smaller than normal head size), seizures and a progressive loss of the ability to move normally.
How does SPG50 manifest itself?
In the early stages of life, patients usually have low muscle tone, known as hypotonia. However, over time, this hypotonia gives way to increased muscle tone (hypertonia) and spasticity, a severe stiffness in the muscles, especially in the legs. This progression makes it difficult to walk normally and, in many cases, leads to the need to use a wheelchair. In the most advanced stages, the disease can cause an almost total loss of movement in all four limbs and the torso, resulting in quadriplegia.
What causes SPG50?
SPG50 is caused by mutations in the AP4M1 gene, a gene that plays a crucial role in the proper functioning of nerve cells. This disorder has an autosomal recessive inheritance pattern, which means that a person needs to inherit two defective copies of the gene (one from each parent or by uniparental disomy) to develop the disease and is diagnosed through genetic testing.
How will it impact Ona's life if she does not receive treatment?
SPG50 is a very rare disease, it would fall into the ultra-rare group, of which there are very few cases in the world and each patient is different. What is known at the moment, given its recent discovery, is that SPG50 not only affects physical and neurological abilities, but also involves emotional and social challenges for both patients and their families. Care often requires a multidisciplinary approach that includes physical therapy, speech and developmental therapies, specialized medical support and mobility assistance.
Why is early diagnosis important?
Early diagnosis can help families better understand the condition, access palliative treatments and appropriate planning, and participate in medical research or clinical trials such as the one underway in Dallas.
Key entities in the research and treatment of SPG50
SPG50 is a rare disease, and its research and treatment depend largely on the support of international organizations, medical institutions, foundations and associations dedicated to rare diseases. These are the ones that are currently helping us.
The The University of Texas Southwestern Medical Center is a medical and research institution recognized for its work in a variety of areas, including rare diseases. It has been a key center in conducting clinical trials for gene therapy treatments for diseases such as SPG50, collaborating with organizations such as the Columbus Foundation to provide access to innovative therapies for international patients, and is where Ona can be treated.
Elpida Therapeutics is a social purpose corporation created with the goal of overcoming obstacles in the development of gene therapies for rare diseases, especially those affecting small populations with unmet medical needs. The company seeks to combine profitability with social responsibility by extending clinical-stage gene therapy programs to other rare neurodegenerative diseases. The Columbus Foundation has been instrumental in the creation of Elpida Therapeutics, along with the CureSPG50 and the Columbus Children's Foundation.
The Columbus Foundation is an international non-profit organization, established in 2017, dedicated to facilitating access to advanced therapies for children with cancer and rare diseases, improving their life expectancy and quality of life. The foundation intervenes in cases where treatments are clinically possible but not commercially viable, collaborating with medical and scientific institutions to develop and provide these therapies.
El Hospital Sant Joan de Déu Barcelonais a leading institution in the research and diagnosis of rare diseases, especially in the pediatric field. Through its Institut de Recerca Sant Joan de Déu (IRSJD), the hospital has established the research group in Genomics for the Diagnosis of Rare Diseases, which develops advanced genomic tools to identify neurological diseases and other minority pathologies of genetic origin.
Nexe Fundació is an organization specialized in the comprehensive care of children with multiple disabilities and their families. It offers personalized resources that cover the educational, health and psychosocial needs of children from birth, also providing continuous support to families.
