[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"krabbe-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:krabbe-disease":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,47,77,135],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":32,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":4},"100649790","phase-2-safety-tolerability-pharmacokinetics-and-preliminary-efficacy-of-plx-200-in-pediatric-patients-master-protocol-100649790",false,"NCT07740512","Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)","An Open-Label, Multicenter, Phase 2 Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients With Lysosomal Storage Disorders (SOTERIA)","Inclusion Criteria:\n\n1. Male or female participants aged 2 to 15 years at the time of informed consent. Any deviations must be approved in advance by the Medical Monitor and Sponsor.\n2. Genetically confirmed diagnosis of one of the four LSDs included in this study: CLN2, CLN3, Sandhoff disease or Krabbe disease. Diagnosis must be supported by all of the following:\n\n   * Age of symptom onset consistent with the targeted subtype,\n   * Relevant clinical manifestations, and\n   * Documented genotype at Screening or prior to enrollment. If no genotype is available at Screening, blood samples will be collected for genetic analysis as part of study procedures.\n3. Written informed consent must be obtained from the participant's parent(s) or legal guardian(s). Assent must also be obtained from the participant, when applicable, in accordance with local regulations and the participant's developmental status.\n4. Parent(s) or legal guardian(s) must demonstrate willingness and ability to comply with the protocol, including adherence to all required baseline, treatment, and follow-up assessments.\n\nExclusion Criteria:\n\n1. The participant has a known inherited neurologic disease other than the targeted lysosomal storage disorder subtype.\n2. The participant has a neurological illness unrelated to the study indication that may independently cause cognitive or motor decline.\n3. The participant requires ventilatory support, except for noninvasive support during sleep (e.g., Continuous Positive Airway Pressure \\[CPAP\\], Bilevel Positive Airway Pressure \\[BiPAP\\]).\n4. The participant has moderate or severe hepatic dysfunction, defined as alanine aminotransferase (ALT), aspartate aminotransferase (AST), or total bilirubin greater than 3 times the upper limit of normal (ULN), except in cases of Gilbert syndrome. The participant has a diagnosis of primary biliary cirrhosis.\n5. The participant has clinically significant anemia\n6. The participant has a body surface area (BSA)-adjusted eGFR \\\u003C90 mL\u002Fmin\u002F1.73m2 at Screening or baseline.\n7. The participant has a history or current diagnosis of gallbladder disease (e.g., cholelithiasis or cholecystitis).\n8. The participant has a known hypersensitivity to gemfibrozil or any component of the study drug.\n9. The participant is currently using, or is expected to require during the study, any of the following medications which are contraindicated with PLX-200:\n\n   * HMG-CoA reductase inhibitors\n   * Repaglinide (Prandin®)\n   * Dasabuvir (Exviera®)\n   * Selexipag (Uptravi®)\n   * Pioglitazone (Actos®)\n   * Fibrate medication (e.g., gemfibrozil, fenofibrate). Participants must not have received gemfibrozil or other fibrates for at least 2 weeks or five half-lives, whichever is shorter, before Visit 2 (Day 1). They may not receive gemfibrozil or other fibrates during the study\n10. Participants receiving Zavesca® (miglustat) or any other prohibited therapies must be willing to discontinue these therapies, complete a washout period (2 weeks or five half-lives, whichever is shorter) prior to Visit 2 (Day 1), and refrain from receiving them while they are participating in the study. If participants were previously on Brineura®, they must complete a 3-month washout period prior to Visit 2 (Day 1) and refrain from receiving it while they are participating in the study.\n11. The participant has a medical condition or personal circumstance that, in the opinion of the Investigator or Sponsor, could compromise safety, protocol compliance, or the interpretability of study data.\n12. The participant has received any investigational product or medical device within 30 days prior to the baseline visit that could confound study results or pose additional risk. All participants who have previously received stem cell or gene therapy are excluded regardless of timing.\n13. The participant receives systemic anticoagulant therapy (e.g., warfarin) and is unable or unwilling to comply with increased frequency of INR monitoring during study participation. Note: Participants may be eligible if receiving anticoagulants (e.g., warfarin) provided that INR can be monitored with increased frequency and dose adjustments are implemented to maintain therapeutic range and avoid bleeding complications.\n14. The participant has uncontrolled seizures, defined as ≥4 generalized tonic-clonic seizures per month or a recent episode of status epilepticus.\n15. The participant has severe central nervous system abnormalities (e.g., hydrocephalus, intracranial shunt).\n16. The participant has a history of clinically significant arrhythmia or QTc prolongation at Screening or baseline.\n17. The participant is pregnant or breastfeeding or is a female showing signs of pubertal development (e.g., Tanner Stage ≥2) who is unable or unwilling to undergo pregnancy testing at Screening or baseline. All such determinations must involve consultation with the Medical Monitor and follow the procedures outlined in each ISA.","ALL","2 Years","15 Years",{"count":20,"type":21},24,"ESTIMATED","INTERVENTIONAL",[24],"PHASE2","The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.",[27,28,29,30,31],"Lysosomal Storage Disorders","Sandhoff Disease","Krabbe Disease","CLN2","CLN3",[31,30,29,33,34],"Pediatric","LSD","NOT_YET_RECRUITING","2026-07-28",{"date":38,"type":39},"2026-07-31","ACTUAL",{"date":41,"type":21},"2026-12-01",{"date":43,"type":21},"2029-02-01",{"name":45,"class":46},"Polaryx Therapeutics, Inc.","INDUSTRY",{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":54,"targetDuration":56,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":76},"100285296","krabbe-disease-global-patient-registry-100285296","NCT02993796","Krabbe Disease Global Patient Registry","The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry","Inclusion Criteria:\n\n* Anyone diagnosed with Krabbe disease\n* Anyone at-risk for Krabbe disease\n* Family members of someone diagnosed with, or at-risk for, Krabbe disease.\n\nExclusion Criteria:\n\n* Anyone who is not diagnosed with, or at-risk for, Krabbe disease\n* Anyone who is not a family member of someone diagnosed with, or at-risk for, Krabbe disease",{"count":55,"type":21},60,"5 Years","OBSERVATIONAL","The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to determine whether level of GALC enzyme activity, or a specific genetic mutation predict the clinical course; and to determine which neurodiagnostic tests predict onset and\u002For severity of the disease.",[29],[61,62,63,64],"Krabbe disease","globoid cell leukodystrophy","galactosylceramide lipidosis","sphingolipidosis","RECRUITING","2026-07-15",{"date":68,"type":39},"2026-07-17",{"date":70,"type":39},"2014-09",{"date":72,"type":21},"2026-09",{"name":74,"class":75},"State University of New York at Buffalo","OTHER",1,{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":81,"acronym":4,"eligibilityCriteria":82,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":83,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":85,"conditions":86,"keywords":112,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":76},"100311346","longitudinal-study-of-neurodegenerative-disorders-100311346","NCT03333200","Longitudinal Study of Neurodegenerative Disorders","Inclusion Criteria:\n\n* Any patient with a genetic neurodegenerative disorder\n\nExclusion Criteria:\n\n* none",{"count":84,"type":21},1500,"The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.",[87,29,88,89,90,91,92,93,94,95,96,97,98,28,99,100,101,102,103,104,105,106,107,108,109,110,111],"MLD","ALD","MPS I","MPS II","MPS III","Vanishing White Matter Disease","GM3 Gangliosidosis","PKAN","Tay-Sachs Disease","NP Deficiency","Osteopetrosis","Alpha-Mannosidosis","Niemann-Pick Diseases","MPS IV","Gaucher Disease","GAN","GM1 Gangliosidoses","Morquio Disease","S-Adenosylhomocysteine Hydrolase Deficiency","Batten Disease","Pelizaeus-Merzbacher Disease","Leukodystrophy","Lysosomal Storage Diseases","Purine Nucleoside Phosphorylase Deficiency","Multiple Sulfatase Deficiency Disease",[33,113,114,115,116,117,118,119,120,121,122,123,124,125],"Rare","Neurodegenerative","Genetic","Neurodevelopment","Brain","MRI","Biorepository","NDRD","Longitudinal","Cognitive","Motor","Language","Adaptive behavior","2026-02-04",{"date":128,"type":39},"2026-02-09",{"date":130,"type":39},"2012-01-11",{"date":132,"type":21},"2035-01",{"name":134,"class":75},"University of Pittsburgh",{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":140,"acronym":141,"eligibilityCriteria":142,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":143,"targetDuration":145,"studyType":57,"phases":4,"briefSummary":146,"conditions":147,"keywords":208,"overallStatus":65,"whyStopped":4,"lastUpdateSubmitDate":215,"lastUpdatePostDateStruct":216,"startDateStruct":218,"completionDateStruct":220,"leadSponsor":222,"locationsCount":224},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":144,"type":21},12000,"10 Years","The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[108,148,149,150,151,152,88,153,154,155,156,157,158,159,160,161,162,163,164,165,166,29,167,168,169,170,171,172,173,174,175,176,177,178,179,180,87,181,182,107,183,184,185,186,187,188,189,190,191,192,193,92,194,195,196,197,198,199,200,201,202,203,204,205,206,207],"White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","Metachromatic Leukodystrophy","PMD","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[209,210,211,212,213,214],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":217,"type":39},"2025-10-23",{"date":219,"type":39},"2016-12-08",{"date":221,"type":21},"2030-12-08",{"name":223,"class":75},"Children's Hospital of Philadelphia",23]