Treating Sanfilippo Syndrome with Stem Cells

While only 1 in 70,000 children are born with Sanfilippo syndrome, this condition significantly impacts their growth and development. Children with Sanfilippo syndrome lack a specific gene that prevents central nervous cells from functioning correctly.

Clinical studies suggest that stem cell therapy could be a promising treatment method for this condition. Learn more about the research surrounding stem cells for Sanfilippo syndrome below.

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a form of childhood dementia. This rare genetic metabolism disorder primarily affects the central nervous system, which comprises the spinal cord and brain.

Sanfilippo syndrome is an inherited disorder and results from a deficiency in the enzyme sulfamidase. Sulfamidase breaks down heparan sulfate, a complex sugar molecule. Without sulfamidase, heparan sulfate builds up over time and damages the central nervous system cells, affecting the child's organs, growth, behavior, and cognitive development.

Because four enzymes are responsible for breaking down heparan sulfate, there are four types of Sanfilippo syndrome — A, B, C, and D. All four types stunt growth and development, but their severity and progression rate vary. Type A is the most common and severe.

Children with MPS III are born with the condition. However, most won't start displaying symptoms until early childhood, usually between 2 and 6 years old. Here are some early signs of Sanfilippo syndrome:

• Delayed speech and other mild developmental delays
• Frequent throat, ear, or sinus infections
• Ongoing diarrhea and bowel problems
• Sleep issues, hyperactivity, and restlessness
• Headaches
• Large head size
• Features of autism spectrum disorder
• High tendency to put things in their mouth or chew on objects (hyperorality)

Over time, these symptoms can progress and lead to:

• Severe cognitive and behavioral problems.
• Seizures.
• Arthritis.
• Visual impairment.
• Contractures of hands and fingers.
• Loss of motor skills, including speaking, walking, and eating.

The current life expectancy of MPS III is 10-20 years. Most children with Sanfilippo syndrome reach their teenage years, and some live longer.

There is currently no cure for Sanfilippo syndrome. However, doctors and researchers around the world are working hard to find one. Many believe that certain treatments — such as gene, enzyme replacement, and stem cell therapies — show great potential.

Treating MPS III generally focuses on easing a child's symptoms, giving them the best quality of life for as long as possible. Doctors use numerous therapies and approaches to manage Sanfilippo syndrome symptoms, including:

• Anti-seizure medications.
• Behavioral therapy.
• Dietary adjustments.
• Ear, nose, and throat therapies.
• Educational interventions.
• Heart medications.
• Occupational therapy.
• Physical therapy.
• Speech therapy.

Several Sanfilippo syndrome clinical trials are in progress. Below are some potential treatment routes in exploration.

Sanfilippo syndrome gene therapy is a single procedure that delivers a gene into the body. This gene contains the instructions to create the missing enzyme. A harmless virus — such as the Adeno-associated virus (AAV) — is typically used to introduce the gene. It can be injected into the brain, bloodstream, or cerebrospinal fluid (CSF).

A clinical trial involving five MPS III patients aged 6 to 24 months is underway. Researchers discovered that four of the five patients are showing gradual developmental improvements and gaining cognitive skills. However, the investigators urge caution since most of the patients haven't yet reached 4-5 years, which is when the condition is often most severe.

The researchers will follow the patients for about three years, reporting clinical and biochemical outcomes as they arise.

During ERT, a missing enzyme in a patient with Sanfilippo syndrome is produced in a laboratory. The enzyme is then injected into the bloodstream or brain. Multiple ERT clinical trials are being conducted, but several have been unsuccessful.

Researchers believe a possible explanation is a lack of delivered enzymes reaching the cells, as they must physically enter the cells to function properly. Getting sufficient enzymes into the brain has proven challenging, but researchers are exploring different technologies to hopefully improve the outcomes.

Stem cells are essential for bodily growth and repair. They have the unique ability to regenerate into various cells, including:

• Blood cells.
• Muscle and bone cells.
• Brain cells.

They can also multiply to keep their supply from running out. Currently, stem cell therapy for Sanfilippo syndrome is in the preclinical trial phase.

During stem cell therapy, stem cells are taken from a donor and introduced to the patient's body. Stem cells overproduce the missing enzyme and target cells that flow into the brain. The affected brain cells accept the enzyme to correct the excessive heparan sulfate accumulation.

Traditionally, doctors primarily collected hematopoietic stem cells (HSCs) — which develop into blood cells — from bone marrow. However, bone marrow stem cell transplants are highly invasive and come with multiple risks, such as Graft-versus-host disease (GvHD), infection, and organ damage.

Doctors can now extract HSCs from umbilical cord blood, cord tissue, and placental tissue. These sources could provide a safer, more accessible, and less invasive treatment option for Sanfilippo syndrome.

Recent research points to HSC transplantation (HSCT) as a possible Sanfilippo syndrome cure. One girl with Type A MPS III underwent HSCT at 2 years old.

Compared to six other children with Sanfilippo syndrome who did not receive HSCT, the girl was able to maintain her motor function, cognitive skills, and an improved overall quality of life. She also experienced normal levels of sulfamidase activity and urinary glycosaminoglycan. High urinary glycosaminoglycan is a hallmark of Sanfilippo syndrome — the composition of these linear sulfated polysaccharides can be linked to various conditions. There was no rejection of the new cells or other serious complications.

Though her development was gradual, she could perform the following activities with minimal support by age 11:

• Running
• Jumping
• Climbing
• Eating and drinking
• Dressing
• Using the bathroom

The girl has shown no signs of regression. Though she generally slept well, she did exhibit some behavioral problems like temper tantrums, compulsive behavior, aggressiveness, and hyperactivity. Antipsychotic medications helped manage and improve these symptoms.

Researchers used a four-point scoring system to measure the girl's speech, cognitive, and motor function. They compared her total disability score against those of the six patients who didn't receive HSCT.

The six children showed continuous decline in speech, cognitive, and motor abilities. While the girl did display some speech and cognitive delays, she didn't show any signs of cognitive or motor regression.

As more studies and treatments become available for diseases like Sanfilippo syndrome, we encourage you to start banking stem cells with Americord®. We collect and process stem cells from cord blood, cord tissue, and placental tissue, securely storing them in our private bank. You and your family can then access these cells for a variety of medical uses.

Put your family's health at the forefront and prepare for the future with stem cell storage. If you're interested in stem cell banking with Americord®, browse our pricing plans or call us (866-503-6005) today.

Disclaimer:

Americord does not endorse or recommend seeking medical treatment outside of the United States. We are committed to providing information and resources related to newborn stem cell treatments and the active clinical trials taking place. Our intention is solely to offer educational insights. Americord does not claim that these clinical trials will become FDA-approved treatments. It is essential that families consult with qualified healthcare professionals for any medical decisions related to newborn stem cell treatments.

The views, statements, and pricing expressed are deemed reliable as of the published date. Articles may not reflect current pricing, offerings, or recent innovations.