A team at the Research Institute of the McGill University Health Centre (RI-MUHC) in Canada is working to find a treatment for nephropathic cystinosis, a rare genetic disorder that affects children and is particularly prevalent in Québec. You can read more about this at the original article on RI-MUHC’s website by clicking here.
About Nephropathic Cystinosis
Nephropathic cystinosis is a rare and lifelong disorder that usually first becomes apparent in young children. According to RI-MUHC’s article, all affected children will need kidney transplantation, and the condition is often fatal before the age of thirty.
Cystinosis is a genetic disorder caused by a mutation in the gene that codes for a protein called CTNS. As a result, the amino acid cysteine can build up in the body, which can affect many different areas, such as the kidneys, eyes, muscles, brain, and heart, amongst others. Nephropathic cystinosis is ten times more prevalent in Québec, and researchers in Canada are working to develop a treatment that will help to change the outcomes for patients.
Sophie and Nolan
Nolan, who is nine now, was diagnosed with nephropathic cystinosis soon after he was born. According to his mother Sophie, Nolan was constantly thirsty but found it difficult to eat and move, and wasn’t growing. She says that MUHC’s research into a treatment “gives us real hope.”
Working Toward a Treatment
RI-MUHC has been awarded $2 million from a national genomic contest that was led by Génome Canada to carry out research into nephropathic cystinosis. Dr Paul Goodyer, who will lead the team of scientists, says that this research “is crucial to taking the next steps toward setting up a clinical trial.”
The team, who are collaborating with Eloxx Pharmaceuticals, are hoping to develop a drug that will help to address the underlying genetic cause of nephropathic cystinosis. By helping the body to “overlook” the disorder-causing genetic mutation, the body may be able to produce the functional CTNS protein that patients don’t have, and this could alleviate symptoms. Dr Goodyer says that the therapy “has the potential to be curative.” He is also hopeful that if the drug is shown to be effective for nephropathic cystinosis that it could also be used as the basis for treating other genetic diseases, such as cancers.
