Drugs Q & A

Is There An Effective Drug For Sanfilippo Syndrome Treatment?

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare and progressive genetic disorder that belongs to a group of conditions called mucopolysaccharidoses (MPS). It is an inherited metabolic disorder caused by a deficiency in one of four enzymes responsible for breaking down certain complex sugars called glycosaminoglycans (GAGs) or mucopolysaccharides.

Due to enzyme deficiency, GAGs accumulate in various cells and tissues of the body, leading to progressive damage and dysfunction. Sanfilippo syndrome is characterized by a wide range of neurological and developmental symptoms that become more severe over time. The severity and rate of disease progression can vary among individuals.

There are four subtypes of Sanfilippo syndrome, each caused by a deficiency in a specific enzyme:

1.      MPS IIIA (Sanfilippo A): Caused by a deficiency of the enzyme heparan N-sulfatase.

2.      MPS IIIB (Sanfilippo B): Caused by a deficiency of the enzyme alpha-N-acetylglucosaminidase.

3.      MPS IIIC (Sanfilippo C): Caused by a deficiency of the enzyme acetyl-CoA alpha-glucosaminide acetyltransferase.

4.      MPS IIID (Sanfilippo D): Caused by a deficiency of the enzyme N-acetylglucosamine 6-sulfatase.

This article will take a look at the condition and available treatment options available to patients with the syndrome.

What are the signs and symptoms of Sanfilippo syndrome?

The signs and symptoms of Sanfilippo syndrome can vary depending on the specific subtype (A, B, C, or D) and the individual affected. The severity and rate of disease progression can also differ among individuals. Common signs and symptoms of Sanfilippo syndrome may include:

1.      Developmental Delay: Infants with Sanfilippo syndrome may experience delays in reaching developmental milestones, such as sitting, crawling, and walking. Speech and language development may also be delayed.

2.      Cognitive Impairment: Individuals with Sanfilippo syndrome usually experience progressive intellectual disability. As the disease progresses, learning difficulties become more pronounced, and affected individuals may lose previously acquired skills.

3.      Behavioral Problems: Sanfilippo syndrome can lead to behavioral issues, including hyperactivity, aggression, self-injurious behaviors, and attention problems.

4.      Sleep Disturbances: Sleep problems are common in individuals with Sanfilippo syndrome, and they may experience difficulty falling asleep, frequent awakenings during the night, or early morning awakenings.

5.      Communication Difficulties: Speech and language development are often affected in Sanfilippo syndrome. Children may have speech delays or difficulty articulating words and phrases.

6.      Coarse Facial Features: Over time, individuals with Sanfilippo syndrome may develop coarse facial features, including thick lips, enlarged tongue, and a prominent forehead.

7.      Enlarged Liver and Spleen: In some cases, individuals with Sanfilippo syndrome may have an enlarged liver and spleen (hepatosplenomegaly).

8.      Skeletal Abnormalities: Sanfilippo syndrome can cause skeletal abnormalities, including joint stiffness, claw-like hands, and abnormal curvature of the spine (kyphosis).

9.      Seizures: Some individuals with Sanfilippo syndrome may experience seizures.

10.   Progressive Neurodegeneration: Sanfilippo syndrome leads to progressive neurodegeneration, causing a decline in motor skills, coordination, and cognitive abilities.

It’s important to note that the signs and symptoms of Sanfilippo syndrome may not be evident at birth and may become more apparent as the child grows and develops. Due to the progressive nature of the disease, symptoms tend to worsen over time.

Is there an Effective Medication For Sanfilippo Syndrome

There is currently no cure for Sanfilippo syndrome. Treatment is generally supportive and aims to manage symptoms and improve the quality of life for affected individuals. However, researchers are actively working on potential therapeutic approaches to treat Sanfilippo syndrome. Some of the ongoing research and potential treatment strategies include:

  • Enzyme Replacement Therapy (ERT): ERT involves infusing or administering the missing enzyme directly into the body to help break down the accumulated sugars. While ERT has been successful in treating some other types of mucopolysaccharidoses (MPS), it has been challenging to develop an effective ERT for Sanfilippo syndrome due to the complexity of the blood-brain barrier, which restricts the enzyme’s entry into the brain.
  • Gene Therapy: Gene therapy aims to deliver functional copies of the deficient gene to cells, enabling them to produce the missing enzyme. Researchers are exploring different methods to deliver gene therapy to the brain effectively and safely.
  • Substrate Reduction Therapy (SRT): SRT is an approach aimed at reducing the production of the accumulated sugars in the body. By inhibiting the synthesis of these sugars, the hope is to slow down the progression of the disease.
  • Supportive Care: Currently, the mainstay of treatment for individuals with Sanfilippo syndrome involves supportive care to manage symptoms and improve quality of life. This may include physical therapy, occupational therapy, speech therapy, and medications to manage symptoms like seizures and sleep disturbances.

It’s essential for families affected by Sanfilippo syndrome to work closely with medical professionals and researchers who specialize in this condition. Clinical trials and research studies are ongoing to test potential therapies, and individuals may be eligible to participate in these trials to explore potential treatment options.

Given the rarity and complexity of Sanfilippo syndrome, a multidisciplinary approach to care involving various specialists, therapists, and support services is crucial to addressing the diverse needs of affected individuals and their families. Families should consult with their healthcare providers and explore resources provided by patient advocacy organizations dedicated to Sanfilippo syndrome for the latest information and support.

What is the life expectancy of someone with Sanfilippo syndrome?

The life expectancy of someone with Sanfilippo syndrome can vary significantly based on the specific subtype (A, B, C, or D) and the individual’s overall health and disease progression. Generally, Sanfilippo syndrome is a progressive and life-limiting condition. Individuals with severe forms of the disease tend to have a shorter life expectancy compared to those with milder forms.

Children with Sanfilippo syndrome typically experience developmental regression and a decline in cognitive and physical abilities as the disease progresses. Due to the neurodegenerative nature of the condition, affected individuals may face significant challenges as they age.

For the most severe subtypes of Sanfilippo syndrome (MPS IIIA and MPS IIIB), life expectancy is often limited, with many affected individuals passing away in late childhood or early adolescence. In some cases, life expectancy may extend into the late teens or early adulthood that’s about 10 to 20 years.

However, some patients with the condition have been reported to live for up to 50 years especially those with milder subtypes of Sanfilippo syndrome (MPS IIIC and MPS IIID). However, they still face significant health and developmental challenges throughout their lives.

It’s important to remember that each person’s experience with Sanfilippo syndrome is unique, and predicting individual life expectancy can be challenging due to the wide variability in disease progression. Advances in medical care and supportive therapies may also impact the overall health and quality of life of individuals with Sanfilippo syndrome.

Early diagnosis and comprehensive medical management, including supportive care and therapies, are essential in providing the best possible quality of life for individuals with Sanfilippo syndrome and supporting their families. Healthcare professionals, including geneticists, neurologists, and palliative care specialists, play a crucial role in providing tailored care and support to meet the specific needs of affected individuals and their families.

How to participate in Sanfilippo Syndrome Clinical trial

Participating in clinical trials and research studies is a valuable way for families and individuals affected by Sanfilippo syndrome to contribute to scientific knowledge and potentially benefit from new treatments and therapies. Here are the steps to participate in a clinical trial:

1.      Stay Informed: Stay updated on the latest clinical trial opportunities and research studies related to Sanfilippo syndrome. ClinicalTrials, ClinicalTrialsRegister and International Clinical Trials Registry Platform (ICTRP) which regularly list ongoing and upcoming clinical trials.

2.      Contact Research Organizations: If you come across a clinical trial or research study that interests you or seems relevant to your situation, reach out to the research organization or principal investigator listed in the trial description. They can provide you with more detailed information about the study, eligibility criteria, and enrollment process. Send a message to: Contact@CureSanfilippoFoundation.org if you would like more information about any of these clinical trials or other earlier-stage research underway.

3.      Understand the Eligibility Criteria: Each clinical trial has specific eligibility criteria, including age, medical history, and disease severity. It’s crucial to determine whether you or your loved one meet the requirements to participate in the study.

4.      Seek Medical Advice: Before enrolling in a clinical trial, discuss the opportunity with your healthcare provider or medical team. They can help you assess the potential risks and benefits and ensure that participating in the trial aligns with your overall medical care.

5.      Informed Consent: If you decide to participate in a clinical trial, you will be asked to provide informed consent. This involves receiving detailed information about the study’s objectives, procedures, potential risks, and benefits. Take your time to understand the information and ask any questions you may have before giving your consent.

6.      Commitment and Compliance: Participating in a clinical trial requires a commitment to follow the study protocols and attend all required appointments and assessments. Compliance with the study requirements is essential to gather accurate data and evaluate the intervention’s effectiveness.

7.      Monitor Progress: Throughout the study, researchers will monitor participants’ progress and collect data. Your cooperation and willingness to provide information and feedback are critical to the success of the trial.

8.      Keep in Touch: After the study concludes, stay in touch with the research team to receive updates on the trial’s findings and potential future opportunities for follow-up studies or new interventions.

Participating in a clinical trial or research study can be a meaningful way to contribute to the scientific community’s understanding of Sanfilippo syndrome and potentially make a positive impact on future treatments. Always approach clinical trials with an open mind, and remember that your participation can make a difference in advancing medical knowledge and improving the lives of those affected by Sanfilippo syndrome.


Dr. Oche Otorkpa PG Cert, MPH, PhD

Dr. Oche is a seasoned Public Health specialist who holds a post graduate certificate in Pharmacology and Therapeutics, an MPH, and a PhD both from Texila American University. He is a member of the International Society of Substance Use Professionals and a Fellow of the Royal Society for Public Health in the UK. He authored two books: "The Unseen Terrorist," published by AuthorHouse UK, and "The Night Before I Killed Addiction."
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