Mucopolysaccharidosis Type 1 (MPS 1) is a rare genetic disorder that causes joint, heart and eye problems. A progressively debilitating disorder, it is a rare and lethal condition that had no treatment available till the 1990s and at that time, life expectancy for children with MPS 1 was less than 15 years.
Dr. Fatma Al Jasmi, Chair of Genetics & Genomics department, Associate Professor at College of Medicine and Health Science, UAE University, Metabolic Consultant at Tawam hospital and founding member of UAE Rare Disease Society told Omnia Health Magazine: “Mucopolysaccharidosis Type 1 is a rare inherited disease that affects parts of the body. It results from the missing enzyme called L-iduronidase. This enzyme breaks down large molecules into smaller particles. When the enzyme is missing or not working properly, this results in the build-up of this large molecule in the cell of different organs in the body.
This accumulation increases as the patient gets older and results in progressive deterioration of his/her condition and early death. If the patient has severe enzyme deficiency, this results in a severe form of the disease while mild deficiency of enzyme results in the attenuated form of the disease.”
She highlighted that MPS 1 is classified as a rare disease because it occurs in around 1 patient per 100,000. “In the UAE, we have diagnosed around 10 cases of MPS 1 from different ethnic backgrounds,” she added.
People who are diagnosed with it lack an enzyme in their body that helps break down food waste materials. Over time, this causes damages to organs such as heart, liver, brain. It also has other risks such as stiffening of joints, difficulty in breathing, stunted physical growth, headaches and vomits that often result in passing out, blindness, deafness, enlargement of the stomach and the head, and having an abnormally large liver and in certain cases mental retardation.
“Patients with MPS 1 present with a recurrent respiratory infection, hearing problems, distended abdomen because of the large liver and large spleen, umbilical and inguinal hernia, restriction of their joint movement, heart problem because of thickening of the heart valve as well as coarsening of their facial features such as thick lip, thick eyebrows, prominent forehead and they tend to have a large head,” explained Dr. Al Jasmi. “Patients with a severe form of the disease present with loss of developmental skills. It can be treated by replacing the missing enzyme by enzyme replacement therapy and stem cell transplantation for the severe form of the disease. “
Dr. Al Jasmi said that the UAE has taken a number of steps to create awareness around the disease. The country has carried out several educational awareness programmes for general physicians and paediatricians about the disease for early diagnosis and early treatment. Moreover, the country established the UAE Rare Disease Society in 2018 to increase awareness about rare diseases in the country.
Impact of personalised medicine on MPS 1
Commenting on some of the recent advancements such as the use of personalised medicine, Dr. Al Jasmi shared that the UAE has successfully adopted these practices.
She explained: “In the field of inborn errors of metabolism, we know that each patient presented to our clinic is unique. Therefore, we tailor the treatment based on the genetic makeup, biochemical and clinical evaluation for each individual. The treatment is different for the same disease between different families and even between the siblings with the same disease.
“For example, a patient with severe MPS 1 disease who is present with developmental delay, is treated with stem cell transplantation while patients with the attenuated disease are treated with enzyme replacement therapy.”
Furthermore, she shared that the UAE has been practising personalised medicine in the genetics field for many years. “SEHA and the Abu Dhabi Health Authority have been very supportive to provide innovative and personalised treatment for our patients in a timely manner and because of that, we have had a good outcome for our patients. These treatments have prevented death and severe complications in our patients,” she added.
There are also many ongoing clinical trials for rare diseases with great potential for success, she highlighted.
“I believe we will have more treatment available for our patients to improve the quality of their health and life. My advice to patients’ family, scientists and pharmaceutical companies is that we should work together to find cure for such rare diseases,” she concluded.
Fighting for life
Ryan Dant, son of Mark Dant, a police officer the in U.S. was diagnosed with MPS 1. To save his son, Mark began a global search for scientists and philanthropists who could aid in finding a treatment in time to help children and families living with MPS. A conversation with a research scientist at a symposium in Düsseldorf, Germany eventually led him to Dr. Emil Kakkis, a researcher at the University of California, Los Angeles (UCLA) who was working on a project to help treat MPS. With help from supporters and researchers like Dr. Kakkis, the family found a treatment and helped Ryan all the way to college graduation. Moreover, Mark founded The Ryan Foundation to create awareness about this rare disease.
This article appears in the March/April edition of Omnia Health Magazine. Other topics include AI in healthcare, patient safety, mobile healthcare and further updates around on COVID-19 from the healthcare industry.