[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"sanfilippo-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:sanfilippo-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,73],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":25,"conditions":26,"keywords":29,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100541682","phase-2-study-of-cannabidiol-in-sanfilippo-syndrome-100541682",false,"NCT06333041","Study of Cannabidiol in Sanfilippo Syndrome","Randomized, Double-Blind, Placebo-Controlled Cross-Over Study to Evaluate the Effects of Cannabidiol on Neurobehavioral and Function Outcomes in Sanfilippo Syndrome","Inclusion Criteria:\n\n* MPS III diagnosis confirmed by genetic testing\n* ≥ 4 years of age\n* Patient or parent\u002Flegal guardian is able and willing to provide informed consent. For patients 7 to 16 years of age, assent must also be provided when cognitively possible.\n* If taking any of the following, no dose changes for the last 8 weeks:\n\n  1. Anakinra\n  2. Fluoxetine\n  3. Probiotic supplement\n* One of the following criteria are met:\n\n  1. Previous participation in a gene\u002Fcell therapy or enzyme restorative clinical trial.\n  2. Previously ineligible to participate in a gene\u002Fcell therapy or enzyme restorative clinical trial due to advanced disease state.\n  3. Functional age, as measured by the Vineland, is ≤ 0.5 chronological age\n\nExclusion Criteria:\n\nEquitable selection will be used when choosing participants. An individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Mutation known to cause slowly progressive disease\n* Taken any form of cannabis, including cannabidiol, in the last 8 weeks\n* Currently enrolled in another ongoing clinical trial\n* Concomitant use of any of the following therapies:\n\n  * Rifampin\n  * Diazepam (except for intermittent use as needed for treatment of a prolonged seizure episode)\n  * Clobazam\n  * Stiripentol\n  * Everolimus, sirolimus, tacrolimus\n  * Digoxin\n  * Valproate\n  * Recreational or medical Tetrahydrocannabinol (THC) or synthetic cannabinoid medications (including Sativex) within the last three months\n  * Felbamate (if taking for less than one year)\n* Non-pharmacological therapies (e.g. ketogenic diet) must be stable for up to four weeks prior to enrollment\n* Clinical evidence of liver disease or liver injury as indicated by the presence of abnormal tests (AST or ALT \\> 2 x ULN; Bilirubin \\> 2 x ULN)\n* Known hypersensitivity to any components of Epidiolex (cannabidiol)\n* Pregnant or lactating women\n* Any other social or medical condition that the investigator believes would pose a significant hazard to the subject if the investigational therapy were initiated or be detrimental to the study","ALL","4 Years",{"count":19,"type":20},35,"ESTIMATED","INTERVENTIONAL",[23,24],"PHASE2","PHASE3","The goal of this clinical trial is to test cannabidiol in Sanfilippo syndrome. The main questions it aims to answer are: 1) determine the safety of cannabidiol in Sanfilippo syndrome, and 2) explore the efficacy of cannabidiol in treating the neurobehavioral symptoms and functional outcomes of Sanfilippo syndrome.\n\nEach participant's caregiver will be asked to complete surveys related to the participant's behavior, mood, sleep, stooling, pain, and caregiver stress intermittently throughout the study. All participants will be enrolled into one of two cohorts based on enrollment order:\n\n1. Sentinel Safety Cohort (first 5 participants) - all participants treated with Epidiolex (cannabidiol)\n2. Controlled Cohort (next 30 participants) - participants randomized 1:1 (equal chance) to start treatment with Epidiolex (cannabidiol) or placebo for 16 weeks, followed by an 8-week washout period (no treatment). Participants then switch to the opposite treatment group for 16 weeks followed by all participants treated for 52 weeks with Epidiolex (cannabidiol).",[27,28],"Sanfilippo Syndrome","Mucopolysaccharidosis III",[30,31],"Cannabidiol","Epidiolex","RECRUITING","2026-06-22",{"date":35,"type":36},"2026-06-25","ACTUAL",{"date":38,"type":36},"2026-04-01",{"date":40,"type":20},"2028-12",{"name":42,"class":43},"Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center","OTHER",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":21,"phases":54,"briefSummary":55,"conditions":56,"keywords":59,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":72},"100264019","phase-2-phase-iiiiii-gene-transfer-clinical-trial-of-scaav9u1ahsgsh-100264019","NCT02716246","Phase I\u002FII\u002FIII Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH","Phase I\u002FII\u002FIII Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA","Inclusion Criteria:\n\n* Diagnosis of MPS IIIA confirmed by the following methods:\n\n  * No detectable or significantly reduced SGSH enzyme activity by leukocyte assay, and\n  * Genomic DNA analysis demonstrating homozygous or compound heterozygous mutations in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* Age:\n\n  * For Cohort 1-3: From birth (participating sites in USA and Australia) OR 6 months (participating sites in Spain) to 2 years of age with no BSITD-III Cognitive Development Quotient (DQ) requirement, or older than 2 years with a BSITD-III Cognitive DQ of 60 or above (participating sites globally).\n  * For Cohort 4 (participating sites in Spain): 3 months to ≤ 2 years of age with no BSITD-III Cognitive DQ requirement or \\> 2 years of age with a BSITD-III Cognitive DQ ≥ 60 (n = up to 6). Up to 2 additional subjects \\> 2 years and ≤ 5 years of age with a BSITD-III Cognitive DQ \\\u003C 60 may also be enrolled. •Subjects must be ≥ 6 months of age before UX111 administration. However, subjects may be consented and initiate relevant Screening Procedures and IM treatment \\\u003C 6 months of age. Refer to Section 8.2 for relevant screening procedures •For children ≤ 24 months chronological age who were born prematurely, defined as born at \\\u003C 36 weeks gestational age, the corrected gestational age must be used for determining inclusion •The BSITD-III Cognitive DQ is assessed during the onsite Screening visit, for subjects who require it •The age of the child on the date of the Screening BSITD-III assessment is used to determine the requirement for the BSITD-III Cognitive DQ score.\n* Cohort 4 only: Vaccination status based on age according to country-specific guidelines that is up to date 30 days prior to Enrollment as verified by documentation from the subject's primary care physician, and willing to defer vaccines through 6 months after completion of the subject's IM medication, or longer per Principal Investigator (PI) judgment. Emergency use authorization or conditional marketing authorization of coronavirus disease (COVID) vaccines is included unless there is an accepted medical exemption.\n\nExclusion Criteria:\n\n* Inability to participate in the clinical evaluation as determined by PI\n* Cohorts 1 to 3 only: Identification of two nonsense or null variants on genetic testing of the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* At least one S298P mutation in the SGSH gene (based upon review of documented results from a qualified laboratory, and with confirmation with Medical Monitor)\n* Has evidence of an attenuated phenotype of MPS IIIA, in the judgement of the PI\n* Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics\n* Active viral infection based on clinical observations\n* Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer or precludes the child from participating in the protocol assessments and follow up\n* Cohorts 1 to 3 only: Subjects with total anti-AAV9 antibody titers ≥ 1:100 equivalent to a positive screen as determined by ELISA binding assay in serum\n* Cohorts 1-3 only: Subjects with a positive response for the enzyme-linked immunosorbent spot assay (ELISpot) for T-cell responses to AAV9\n* Cohorts 1-3 only: Serology consistent with exposure to human immunodeficiency virus (HIV), or serology consistent with active hepatitis B or C infection, Cohort 4: Current clinically significant infections (including any requiring systemic treatment including, but not limited to, HIV; hepatitis A, B, or C; varicella zosters virus; human T-cell lymphotropic virus type 1 \\[HTLV-1\\]; tuberculosis; or COVID-19) that would interfere with participation in the study.\n* Bleeding disorder or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated according to local institutional policy\n* Visual, hearing, or other impairment sufficient to preclude cooperation with neurodevelopmental testing\n* Uncontrolled seizure disorder\n* Any item (braces, etc.) or circumstance that would exclude the subject from being able to undergo MRI according to local institutional policy\n* Any other situation that precludes the subject from undergoing procedures required in this study\n* Subjects with cardiomyopathy or significant congenital heart abnormalities\n* The presence of significant non-MPS IlIA related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study\n* Cohorts 1-3: Abnormal laboratory values Grade 2 or higher as defined in common terminology criteria for adverse events (CTCAE) v4.03 for gamma-glutamyl transferase (GGT), total bilirubin, creatinine, hemoglobin, white blood cell (WBC) count, platelet count, prothrombin time (PT) and activated partial thromboplastin time (aPTT), Cohort 4: Any of the following abnormal laboratory values from screening assessment:\n\n  * Aspartate aminotransferase (AST), alanine aminotransferase (ALT), GGT, and\u002For alkaline phosphatase ≥ 2 × upper limit of normal (ULN) and\u002For total bilirubin \\> 1.5 × ULN\n  * Anemia (hemoglobin \\\u003C 10 g\u002FdL)\n  * Leukopenia or leukocytosis (total WBC count \\\u003C 3,000\u002Fmm3 and \\> 15,000\u002Fmm3 respectively)\n  * Abnormal absolute neutrophil count (ANC) of \\\u003C 1000\u002Fmm3\n  * Platelet count \\\u003C 100,000\u002Fmm3\n  * Coagulopathy (international normalized ratio \\[INR\\] \\> 1.5) or aPTT \\> 40 seconds\n  * Renal impairment, defined as estimated glomerular filtration rate (eGFR) below the lower limit of normal (age and sex appropriate) based on Bedside Schwartz equation\n* Female of childbearing potential who is pregnant or demonstrates a positive urine or bhCG result at screening assessment (if applicable)\n* Cohorts 1-3: Any vaccination with viral attenuated vaccines less than 30 days prior to the scheduled date of treatment (and use of prednisolone)\n* Previous treatment by hematopoietic stem cell transplantation\n* Previous participation in a gene\u002Fcell therapy or enzyme replacement therapy (ERT) clinical trial\n\nCohort 4 only:\n\n* Known hypersensitivity, that in the judgment of the PI, places the subject at increased risk for adverse effects.\n* Unwilling to avoid consumption of grapefruit juice and the use of strong inhibitors of CYP3A4 and\u002For P-gp (eg, ketoconazole, voriconazole, itraconazole, erythromycin, telithromycin, or clarithromycin), strong inducers of CYP3A4 and\u002For P-gp (eg, rifampin, rifabutin, phenobarbital, carbamazepine, or phenytoin), and St. John's Wort from 30 days prior to Screening through completion of the IM regimen.",{"count":53,"type":20},36,[23,24],"The main objective of this study is to evaluate the efficacy and safety of UX111 for the treatment of MPS IIIA.",[57,27,58,28],"MPS IIIA","Sanfilippo A",[57,60,61],"Sanfilippo","Gene Therapy","2026-06-10",{"date":64,"type":36},"2026-06-11",{"date":66,"type":36},"2016-04-25",{"date":68,"type":20},"2029-03",{"name":70,"class":71},"Ultragenyx Pharmaceutical Inc","INDUSTRY",5,{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":77,"acronym":4,"eligibilityCriteria":78,"healthyVolunteers":11,"sex":16,"minAge":79,"maxAge":80,"enrollmentInfo":81,"targetDuration":4,"studyType":21,"phases":83,"briefSummary":84,"conditions":85,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":87,"lastUpdatePostDateStruct":88,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":44},"100563340","phase-2-an-open-label-dose-escalation-study-to-assess-the-safety-tolerability-and-pharmacologic-properties-of-high-dose-ambroxol-hydrochloride-in-adult--18-years-of-age-subjects-with-mps-iii-100563340","NCT06614894","An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III","Inclusion Criteria:\n\n1. IRB - approved informed consent\u002Fassent signed by subject and\u002For parent(s) or legal guardian(s).\n2. Genetically confirmed diagnosis of MPS III disease.\n3. Genomic DNA analysis demonstrating a homozygous or compound heterozygous pathogenic variants in SGSH (type A), NAGLU (type B), HGSNAT (type C), or GNS (type D) genes. Type E will not be studied.\n4. Elevated excretion of urinary GAGs and\u002For serum HS (if no historical data is available, screening GAGs and serum HS values will be utilized to assess inclusion criteria).\n5. Male or female; eighteen years of age and older, who is able to take Ambroxol Hydrochloride orally.\n6. Negative urine pregnancy test at screening for female subjects with child-bearing potential.\n7. The subject is willing to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for 72 hours prior to administration of the first dose of Ambroxol and for the duration of the treatment period.\n\nExclusion Criteria:\n\n1. Unwilling or unable to follow protocol requirements as per principal investigator.\n2. Any serious or chronic medical illness, including significant cardiac or severe debilitating pulmonary disease.\n3. Poorly controlled seizures, defined as more than one seizure per day for the past 6 months.\n4. Medications identified as a strong inducers or inhibitors of CYP3A, and changing to another alternative drug to treat the condition would place the subject at undue risk.\n5. Any medical condition that, in the opinion of the PI, would make the subject unsuitable to participate in the study.\n6. Inability to cooperate for clinical and safety data collection.\n7. Known hypersensitivity to Ambroxol or any of its excipients.\n8. Use of genistein or Miglustat within one week of starting screening.\n9. Evidence of hepatitis B or hepatitis C infection upon serological testing at screening.\n10. Currently participating in another clinical trial or has completed an interventional trial less than 2 weeks prior to screening visit.\n11. The subject has received strong inducers (Note: eg, herbal supplements) or inhibitors of CYP3A within 15 days or 5 half-lives from screening, whichever is longer, prior to enrollment. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting Ambroxol administration.","18 Years","99 Years",{"count":82,"type":20},10,[23,24],"A dose escalation study to evaluate the safety, tolerability, and pharmacologic properties of Ambroxol in adult participants with Sanfilippo disease(s) (MPS3).",[27,86],"MPS3","2025-08-18",{"date":89,"type":36},"2025-08-20",{"date":91,"type":36},"2024-12-01",{"date":93,"type":20},"2026-06-30",{"name":95,"class":43},"Ozlem Goker-Alpan"]