A cure for Sanfilippo!?

We never put all our eggs in one basket. We learned that in the beginning of our diagnosis when everyone said “this option, that option” would lead to treatment or a cure.  So far, nothing has come.

We also never get our hopes up. At least our hope in earthly things.  We believe Jesus Christ alone is our hope and if He wants to cure our children, He will in His time, in His way.  We are called only to trust Him.

We don’t know if gene therapy is going to be something He will use for our kids, or if restoration will come in heaven….but it is with great excitement we share this article.  Again, this could be everything or nothing.

I am thankful for the people trying to find a cure for our children.


Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models

July 2, 2013 — A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.
The study has been published in The Journal of Clinical Investigation.
Sanfilippo Syndrome type A, or Mucopolysaccharidosis type IIIA (MPSIIIA), is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. Mutations in this gene lead to deficiencies in the production of the enzyme, which is essential for the breakdown of substances known as glycosaminoglicans. If these substances are not broken down, they accumulate in the cells and cause neuroinflammation and organ dysfunction, mainly in the brain, but also in other parts of the body. Children born with this mutation are diagnosed from the age of 4 or 5. They suffer neurodegeneration, causing mental retardation, aggressiveness, hyperactivity, sleep alterations, loss of speech and motor coordination, and they die in adolescence.
A team of researchers headed by the director of the UAB’s Centre for Animal Biotechnology and Gene Therapy (CBATEG), Fàtima Bosch, has developed a gene therapy treatment that cures this disease in animal models, with pre-clinical studies in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord. The virus, which is completely harmless, genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, like the liver, where it continues to induce production of the enzyme.
Once the enzyme’s activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal’s behaviour and its life expectancy return to normal. While mice with the disease lived only up to 14 months, those given the treatment survived as long as healthy ones.
This is a joint project between the UAB and the pharmaceutical company Esteve. The study has been published in the online edition of The Journal of Clinical Investigation.
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Story Source:
The above story is reprinted from materials provided byUniversitat Autònoma de Barcelona, via AlphaGalileo.
Note: Materials may be edited for content and length. For further information, please contact the source cited above.


Sanfilippo project is a Public and Private Partnership (PPP) with the UAB (Universitat Autònoma de Barcelona) for the development of gene therapies for mucopolysaccharidosis, a group of inherited metabolic disorders caused by the absence or malfunctioning of enzymes needed to breakdown glycosaminoglycans, a group of long-chain sugars.

The program relies on state-of-the art science developed at the CBATEG (Center of Animal Biotechnology and Gene Therapy) of the UAB. The most advanced project in this program is the development of a novel gene therapy treatment for Sanfilippo syndrome type A (caused by the lack of heparan N-sulfatase or sulfamidase), a rare and devastating disease that leads to progressive and significant deterioration in mental status of children, who rarely live beyond their twenties. The project is based on a viral vector containing the human sulfamidase gene.

The most advanced project within the program has recently been granted Orphan Medicinal Product status by both the European Medicines Agency (EMA) and the US FDA, for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Molecule: Adeno-associated virus (AAV) vector containing the human sulfamidase gene (AAV-
sulfamidase); new advanced (gene) therapy medicinal product.
Mechanism of Action: Induce long-term constitutive expression of the enzyme sulfamidase (heparan N-sulfatase). Therapeutic approach aimed as a curative treatment to correct the specific cause of the disease and both neurological and somatic pathological alterations.
Stage of Development: Preclinical
Clinical Indication: Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Regulatory Status:
• Granted Orphan Medicinal Product designation by both the EMA and FDA • Scientific Advice with the Spanish Medicines Agency (AEMPS) performed • Protocol Assistance Process with the EMA ongoing
Intellectual Property: Product patent application published on 15 December 2011 (WO 2011/154520 A1). Other patent applications in process.

• Collaboration between ESTEVE and Dr. Fatima Bosch ́s research group at the internationally recogni sed Center of Animal Biotechnology and Gene Therapy of the Autonomous University of Barcelona (CBATEG-UAB).
• Currently, the AAV-mediated tissue-directed sulfamidase gene transfer project is being co-developed by ESTEVE and the Dr. Bosch ́s laboratory at CBATEG-UAB. ESTEVE is responsible for intellectual property, regulatory affairs, coordinating GMP production, preclinical and clinical development, and commercialization.
• ESTEVE has exclusive worldwide commercial and license rights. GENE PRODUCT
• The AAV vector containing the human sulfamidase gene is a genetically modified viral vector derived from a wild-type AAV, a non-pathogenic virus. The recombinant vector has been designed to maximise the sulfamidase therapeutic transgene expression.


• Pharmacology, pharmacokinetics (biodistribution) and tolerability studies have been conducted in a mucopolysaccharidosis type IIIA Sanfilippo A mouse model (MPSIIIA mice) and in Beagle dogs using various routes of administration.
• The MPSIIIA mice closely reproduce the human devastating disease including the neurodegeneration, neuroinflammation, hepato-splenomegalia, and shortened lifespan. The human clinical profile presents with initial symptoms and signs associated with delayed psychomotor development and behavioral disturbances that typically start at 1-4 years of age; the clinical profile then evolves into serious behavioral problems, severe sleep disturbances and mental retardation, mobility problems, seizures, swallowing, respiratory and other problems eventually leading to a vegetative state. Mortality is 100% usually in the mid-late teenage years.
• Preclinical results support the safety and efficacy of the approach and its further clinical development which is currently ongoing.

• Ongoing Protocol Assistance Process with the EMA, encompassing non-clinical and clinical development.
• Initiating GMP-like production in facilities considered as a worldwide reference for the manufacturing of gene therapy medicinal products.
SANFILIPPO’s project has been supported by The Spanish Ministry of Economy and Competitiveness.

One thought on “A cure for Sanfilippo!?

  1. Wow!!!! This is tremendously encouraging news! If a cure for San Filippo is found, cures for other rare diseases are also surely in the offing. Thank you so much for sharing this exciting news!


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