Study on the Safety and Initial Effects of AAV9-CAG-coh-SGSH in Children with Sanfilippo A Syndrome

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What is this study about?

This clinical trial is focused on studying a rare genetic disorder called Mucopolysaccharidosis type IIIA, also known as Sanfilippo A syndrome. This condition affects the body’s ability to break down certain sugars, leading to severe neurological symptoms. The study is testing a new treatment called AAV9-hSGSH, which is a type of gene therapy. This treatment uses a harmless virus to deliver a healthy copy of the gene responsible for producing an enzyme called sulfamidase, which is missing or not working properly in patients with Sanfilippo A syndrome.

The purpose of the study is to evaluate the safety and initial effectiveness of this treatment in children with Sanfilippo A syndrome. Participants will receive a single dose of the treatment through a procedure called intracerebroventricular administration, which involves delivering the treatment directly into the brain. The study will monitor the participants over time to assess how well they tolerate the treatment and to observe any changes in their condition.

Throughout the study, various assessments will be conducted, including physical exams, blood tests, and imaging tests like MRI to check brain health. The study will also look at the participants’ immune response to the treatment and measure levels of the enzyme sulfamidase in their bodies. Additionally, the study will evaluate the participants’ development and quality of life using different scales and tests. The goal is to gather important information that could lead to new treatment options for children with Sanfilippo A syndrome.

1 initial assessment

The study begins with an initial assessment to confirm eligibility. This includes a physical examination, blood tests, and a review of medical history.

Eligibility criteria include being a child aged 2 years or older with confirmed Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), among other specific conditions.

2 administration of investigational product

The investigational product, AAV9-hSGSH, is administered as a single dose through a procedure called intracerebroventricular (ICV) injection. This involves delivering the product directly into the brain’s ventricles.

The product is a suspension for injection containing a viral vector designed to deliver the human sulfamidase gene.

3 monitoring and follow-up

After administration, regular monitoring is conducted to assess safety and initial efficacy. This includes physical examinations, blood tests, and imaging assessments such as MRI.

The study also evaluates immune response, including tests for antibodies in the cerebrospinal fluid and blood.

4 evaluation of outcomes

Primary outcomes focus on safety, including monitoring for adverse events and changes in vital signs.

Secondary outcomes assess the impact on enzyme activity, levels of heparan sulfate, and various developmental and behavioral scales.

5 completion of study

The study is estimated to conclude by November 28, 2025. Final assessments will be conducted to evaluate the long-term effects of the treatment.

Who Can Join the Study?

Children who are 2 years or older, both boys and girls.
The family must understand the procedure and agree to it by signing a form called informed consent.
Children must have a confirmed diagnosis of Mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo A syndrome. This means they have a specific change in their genes and low activity of an enzyme called sulfamidase in their blood cells.
The first signs of the condition should have appeared before the child was 6 years old.
Children should have a certain level of adaptive behavior, which is how well they can handle daily life activities, measured by a test called the Vineland Adaptive Behaviour Scale.
Children should be able to walk and not need a wheelchair.
Children should not have severe problems with seeing or hearing, like blindness or needing a hearing aid.
Children should have stable treatment for their symptoms for the last 3 months and should not expect changes in their medication.
Children should not have any medical reasons that would prevent them from having surgery or anesthesia. If they are taking certain pain relievers called non-steroidal anti-inflammatory drugs (NSAIDs), they should stop using them.
Children should be in a stable medical condition to meet the study requirements, including being able to travel and undergo assessments.

Who Cannot Join the Study?

Patients who have a different condition than Mucopolysaccharidosis type IIIA (also known as Sanfilippo A syndrome) cannot participate.
Patients who are not within the specified age range for the study cannot participate.
Patients who are not able to safely receive the study treatment cannot participate.
Patients who have other medical conditions that might interfere with the study cannot participate.
Patients who are unable to follow the study procedures cannot participate.
Patients who have participated in another clinical trial recently may not be eligible.
Patients who are pregnant or breastfeeding cannot participate.
Patients who have a known allergy to any component of the study treatment cannot participate.

Where you can join this trial?

Verified and Recommended Sites

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Verified Sites

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Other Sites

Site Name	City	Country	Status
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain

Trial status

Country	Status	Recruitment Start
Spain	Not recruiting	20.03.2018

Trial locations

Investigated drugs:

Adeno-Associated Viral Vector Serotype 9 Containing The Human Sulfamidase Gene

AAV9-CAG-coh-SGSH is a gene therapy treatment being studied for its safety and initial effectiveness in patients with Mucopolysaccharidosis type IIIA (MPSIIIA), also known as Sanfilippo A syndrome. This therapy uses a viral vector, specifically an adeno-associated virus serotype 9, to deliver a human sulfamidase gene directly into the brain. The goal is to help the body produce the enzyme that patients with this condition lack, potentially improving symptoms or slowing the progression of the disease.

Investigated diseases:

Mucopolysaccharidosis III

Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) – This is a rare genetic disorder that affects the body’s ability to break down certain sugar molecules called glycosaminoglycans. It is caused by a deficiency in the enzyme sulfamidase, leading to the accumulation of heparan sulfate in the body. This buildup primarily affects the brain and central nervous system, resulting in progressive neurological decline. Symptoms often begin in early childhood and may include developmental delay, behavioral problems, and sleep disturbances. As the disease progresses, individuals may experience worsening cognitive and motor skills. Over time, the condition can lead to severe intellectual disability and loss of mobility.

Trial ID:

2024-515835-31-00

Protocol code:

ESTEVE-SANF-201

Trial Phase:

Phase I and Phase II (Integrated) – First administration to humans

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Study on the Safety and Initial Effects of AAV9-CAG-coh-SGSH in Children with Sanfilippo A Syndrome

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?