Open-label Study of Anakinra | MPS IIIA, IIIB, IIIC, IIID | Phase II-III | The Lundquist Institute

March 9, 2020

Page last updated: June 21, 2024

Page reviewed by: Dr. Cara O’Neill, FAAP

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Trial Information

Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

Anakinra is approved by the FDA for treatment of rheumatoid arthritis (RA) and neonatal-onset multisystem inflammatory disease (NOMID). It is not approved for any MPS disorder.

The design of this study is an open-label, single center, pilot study of 20 participants with MPS III. There will be an initial screening visit, followed by an 8-week observational period, then a 36-week treatment period, and finally another 8-week observational period to determine any effects of withdrawal from the treatment.

During visits the participants will undergo a medical history, a physical examination, and anthropometric measurements. Blood, urine, and stool will be collected for biomarker levels and safety laboratory studies. Questionnaires will be completed with questions related to behavior, stooling, sleep, and activities of daily living. Seizure and movement disorders will be monitored as well.

The most common risks of receiving anakinra, based on RA and NOMID experience, include local injection site reactions, headache, nausea, vomiting, arthralgia, and flu-like symptoms. The most serious potential risk is a serious infection and neutropenia. However, because so few people with MPS have been treated with anakinra, all the risks related to MPS patients receiving anakinra are not currently known. Additional risks related to taking part in the study include some pain, bruising, and/or bleeding due to blood draws/peripheral IV placement, and discomfort with completing some of the questionnaires.

The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement and fatigue. However, there is no guarantee that participants will get any benefit from being in this study.

There is one trial location, in the United States (California).

Read this clinical trial’s information on, which includes enrollment criteria, trial locations, and study contact information.

Trial Updates

June 2024

Nature Medicine, one of the world’s most highly-respected medical journals, published clinical trial findings on the use of the anti-inflammatory drug, anakinra, in Sanfilippo syndrome. Results show safety and improvement in neurobehavioral and functional outcomes in individuals with multiple subtypes of Sanfilippo syndrome.

Anakinra was found to be safe in this population with no drug-related serious adverse events. Significant improvements were achieved in multiple symptom categories across study participants. By week 36 of treatment, 94% of participants showed improvement in at least one domain, such as pain, loss of speech, extreme agitation and distress, gastrointestinal symptoms, and profound sleep disturbance. Read more.

February 2021

Two poster presentations were shared at the WORLDSymposium 2021. This has stimulated broader research interest around the world into the role of inflammation in Sanfilippo disease.

January 2020

The MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on


Cure Sanfilippo Foundation Chief Science Officer Dr. Cara O’Neill recognizes the potential of emerging research around the role of inflammation in this disease and how existing FDA-approved drugs, such as Anakinra, could ameliorate patients’ symptoms and brings together clinical and pharmaceutical partners to apply this concept in a clinical trial for children with Sanfilippo Syndrome. Cure Sanfilippo Foundation is also the sole funder of this clinical trial.

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