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UAE is the fifth globally and first in the Arab world to commence treatment ASMD, a rare genetic condition

Supported by Emirates Health Services (EHS) and Al Qassimi Women’s & Children’s Hospital



  • The medicine is used to treat patients suffering from Acid Sphingomyelinase Deficiency (ASMD), which affects the breakdown of certain fats in both pediatric and adult patients
  • There are approximately 1 in 250,000 cases of ASMD worldwide

Emirates Health Services (EHS) has provided treatment for a rare genetic condition known as Acid sphingomyelinase deficiency (ASMD) through Al Qassimi Women’s & Children’s Hospital, one of EHS’ facilities. This makes the United Arab Emirates (UAE) the first nation in the Middle East to offer the treatment, and the fifth country worldwide.

The medication was given to a five-year-old child at the hospital’s Genetic Clinic after being monitored for over a year. Emirates Health Services and the hospital’s pharmacy worked together to treat the child as soon as possible.

Dr. Safia Al Khaja, Director of Al Qassimi Women’s and Children’s Hospital (AQWCH), said: ” In pursuit of our vision to lead the delivery of advanced health services, the hospital began treating ASMD using the first and only enzyme substitute available in the world after the U.S. Food and Drug Administration (FDA) approved the product.

She said: “the spread of the disease has not been established, but one in every 250,000 people around the world suffers from it. Providing treatment for patients with this rare disease reflects the aspirations and objectives of EHS in line with the “WE THE UAE 2030” vision to meet the goals for the UAE 2071.”

As Al-Khaja noted, rare genetic diseases are characterized by a lack of an enzyme required to break down fatty substances. As a result, patients exhibit short stature and changes in their appearance, enlargements of internal organs, and an accumulation of body fat, particularly in the liver, spleen, lungs, and brain, among other symptoms. There may be serious health consequences as a result of this.

During her remarks, Al Khaja praised the Emirati medical staff at the hospital, represented by Dr. Fatima AbdulAziz, Head of the Genetic Disorders Department at Al Qassimi Women’s and Children’s Hospital. She emphasized that the doctor and her team were committed to following international best practices while treating the patient. Al Khaja also praised the cooperation of all staff members, including the medical and nursing staff, and the Board of Directors, which contributed to the enhancement of the quality of patient care.

For her part, Dr. Fatima AbdulAziz Al Ali, Consultant Clinical Geneticist, and Head of the Genetic Disorders Department at Al Qassimi Women’s and Children’s Hospital, said The Emirates Health Services constantly works to ensure that patients receive continuous care. “This is accomplished by providing seamless care by leveraging the benefits of digitalization, seamless care can be provided through utilizing digital tools, we are able to automatically schedule patient consultations and provide them with care immediately to enhance the patient experience.”

She said the symptoms of ASMD include abdominal enlargement causing pain, vomiting, nutritional difficulties, and negative effects on the liver and blood. The patients may develop neurological symptoms, and the lifespan can be only three years in extreme conditions. Individuals with mild condition may live to adulthood but their chances of survival are reduced due to respiratory failure.

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