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First in the Middle East, fifth in the world to start treatment for ASMD in UAE – News

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Patients with this rare genetic disorder experience enlarged abdomens that cause pain, vomiting, nutritional difficulties, and negative effects on the liver, blood


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published: Sunday, March 26, 2023 at 3:31 pm

The UAE is the first country in the Middle East to start treatment for acid sphingomyelinase deficiency (ASMD), a rare genetic disorder that causes premature death.

Al Qassimi Women’s and Children’s Hospital, part of the Emirates Health Services (EHS), has been providing treatment for this rare disease, which affects approximately 1 in 250,000 people worldwide.

What are ASMDs?

It also makes the UAE the fifth country in the world to offer treatment for ASMD, which is caused by a lack of an enzyme needed to break down a complex lipid called sphingomyelin, which accumulates in the liver, spleen, lungs and brain .

Patients with ASMD are said to experience an enlarged abdomen, leading to pain, vomiting, nutritional difficulties, and negative effects on the liver and blood.

Patients may experience neurologic symptoms and may live as little as three years under extreme conditions. People with milder conditions may live into adulthood, but their chances of survival are reduced due to respiratory failure.

UAE case study

The drug was administered to a 5-year-old child at the Genetic Clinic at Al Qassimi Women’s and Children’s Hospital after more than a year of monitoring.

Emirates Health Services and the hospital pharmacy work together to treat your child as quickly 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 in the delivery of advanced healthcare, the hospital began using the world’s first and only available enzyme replacement for ASMD in the U.S. Food and Drugs After the FDA approves the product.”

She added, “The spread of this disease has not been determined, but it affects one in every 250,000 people worldwide. Providing treatment for patients with this rare disease reflects the aspirations and goals of EHS and is consistent with the ‘ Our vision for UAE 2030’ to achieve the goals of UAE 2071.”

As a result, patients experience symptoms such as short stature, altered appearance, enlarged internal organs, and accumulation of body fat, Al Khaja explained. This can have serious health consequences.

Dr. Fatima AbdulAziz Al Ali, Consultant Clinical Geneticist and Director of the Genetic Diseases Unit at Al Qassimi Women’s and Children’s Hospital, said the UAE Health Services are constantly working to ensure patients receive a continuum of care.

“This is achieved by leveraging the benefits of digital to deliver seamless care, which can be enhanced by leveraging digital tools where we are able to automatically schedule patient consultations and provide them with care immediately.”

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