Researchers and companies around the world are working hard to develop effective treatments for children with Sanfilippo and the approaches can be divided into four categories described in more detail below - genetic therapies; enzyme replacement therapies; cell-based therapies; other approaches 

There are several clinical trials underway or planned - see the table below for a summary. More detail of these active trials, planned trials and completed or terminated trials are provided in our factsheet.

Genetic Therapies

Involves introducing a gene into the body which contains the instructions to make the enzyme that is missing in Sanfilippo. Usually, a harmless virus is used to deliver the gene – a commonly used virus is the adeno-associated virus (AAV). Gene therapy is a single procedure, with the therapy injected either directly into the brain, into the cerebrospinal fluid (CSF) or into the bloodstream. There are several clinical trials of this approach underway. More details can be found in our Factsheet

An emerging approach is genome editing which may be able to correct the genetic mistake. It is also sometimes called “CRISPR”. This research is in the early stages.

Enzyme Replacement Therapy (ERT)

Involves replacing the enzyme that is missing in Sanfilippo with enzyme produced in a laboratory. This therapy involves regular injections of the enzyme either into the bloodstream or directly into the brain via an implanted port. Getting enough enzyme into the brain has proven to be a challenge, and several clinical trials of this approach have failed, but other clinical trials are continuing using different technology.  There are several clinical trials of this approach underway or planned. More details can be found in our Factsheet.

Cell-based Therapy

Stem cells have the unique ability to develop into the many specialised cell types of the body, such as muscle cells, blood cells or brain cells. They can also multiply so that their supply doesn't run out. They are essential for growth and repair of the body. Stem cell therapy can involve taking stem cells from a donor (as happens with a bone marrow transplant) or correcting the genetic mistake in the patient’s own stem cells and reintroducing them to the body. A clinical trial of a stem cell-based gene therapy is underway by Orchard Therapeutics – read more in our Factsheet.

Other targets 

Researchers are working to find other drugs that may reduce the progression of Sanfilippo and improve quality of life; these include:

  • Substrate reduction therapies to reduce the amount of heparin sulphate that is produced by the body so that there is less to build up.
  • Chaperones that help the faulty enzymes fold correctly and do their job of breaking down heparan sulphate.
  • Drugs that increase a process called “autophagy” that clears unnecessary or dysfunctional components from cells, allowing them to function better.
  • Drugs to target neuroinflammation that is thought to contribute to the cognitive decline seen in children with Sanfilippo (e.g. see the Anakinra trial above).
  • Researchers are testing large libraries of drugs with many different modes of action on cell models of Sanfilippo to see if any can be repurposed to treat Sanfilippo. E.g., read about our ‘Brain in a Dish’ project.
  • Treatments targeting the symptoms of the disease such as behavioural problems, sleeping issues or lung function, which aim to improve quality of life.

More information

  • If you have questions about clinical trials please contact us at
  • Visit research news for updates on clinical trial outcomes
  • Read about the research we are funding into new therapy avenues
  • Resources for parents considering clinical trials for their child from the Courageous Parents Network (USA)