Page last updated: June 21, 2024
Page reviewed by: Dr. Cara O’Neill, FAAP
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Clinical Trial Summary
Study: “Open-label Study of Anakinra in MPS III” (ClinicalTrials.gov ID: NCT04018755)
Study opened: 1/30/2020
Study status: Completed 3/8/2023
Total number participants enrolled: 24
Study design: Phase I/II single center, open-label, dose-escalation
Route of administration: Subcutaneous daily injection (100mg or 200mg)
Study Length: 52 weeks (8 week observation, followed by 36 weeks treatment with dose escalation as indicated, followed by 8 weeks observation off treatment)
Study Location: The Lundquist Institute, Torrance, California, USA
Trial Listing: https://clinicaltrials.gov/study/NCT04018755
Study Background
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) activity in an animal model of Sanfilippo syndrome (MPS III) showed benefits in brain disease and behavior. This human clinical trial aimed to assess if anakinra (Kineret), which blocks the activity of IL-1 in the body, could improve behavioral and other symptoms in children with various forms of Sanfilippo syndrome.
Anakinra is approved by the FDA for treatment of rheumatoid arthritis (RA) and neonatal-onset multisystem inflammatory disease (NOMID). Because this drug has been used extensively in children and adults, the safety of the drug is well understood. This study gathered information on the safety and effectiveness of anakinra in a group of participants with Sanfilippo syndrome.
This Phase 1/2 trial was an open-label, non-randomized study which enrolled a total of 24 participants with Sanfilippo A, B, and C. Participants were required to be ages 4 and older with significant symptoms attributed to Sanfilippo disease in order to be considered for enrollment.
There was 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.
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 MPS III (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on ClinicalTrials.gov.
2019
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.