[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"grin2d\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:grin2d":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"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":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100621931","phase-3-tap-grin-interventional-study-on-patients-with-grin-related-neurodevelopmental-disorders-100621931",false,"NCT07377032","TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders","L-serine Supplementation in Patients With GRIN-related Neurodevelopmental Disorders: Multicentre Protocol for an Aggregated Series of Randomised, Placebo-controlled N-of-1 Trials","Inclusion Criteria:\n\n* Clinical diagnosis of a GRIN-related neurodevelopmental disorder (GRIN-NDD)\n* Presence of a pathogenic or likely pathogenic loss-of-function (LoF) variant in GRIN1, GRIN2A, GRIN2B, or GRIN2D\n* Parent(s), caregiver(s), or legally authorised representative(s) have been informed of the nature of the study and have provided written informed consent.\n* Participants who are able to do so have provided written informed consent or assent, according to local regulations and cognitive capacity.\n* Parent(s)\u002Fcaregiver(s) are willing and able to comply with study procedures and visits, in the opinion of the investigator.\n* Participants who have previously received L-serine supplementation are willing to discontinue L-serine for at least one week prior to the baseline observation period.\n\nExclusion Criteria:\n\n* Age younger than 2 years at screening.\n* Known hypersensitivity or intolerance to L-serine, placebo, or any excipients used in the study formulations.\n* Presence of a clinically significant unstable medical condition (other than epilepsy) that, in the investigator's judgement, may place the participant at increased risk or interfere with study participation.\n* Any other significant disease or disorder that may compromise participant safety, affect study outcomes, or impair the participant's ability to complete the study procedures.\n* Inadequate supervision by parent(s) or caregiver(s), as judged by the investigator.\n* Participation in another clinical trial involving an investigational medicinal product within the previous 6 months.\n* Female participants who are pregnant or breastfeeding.\n* Presence of a GRIN1, GRIN2A, GRIN2B, or GRIN2D variant for which a clear loss-of-function effect cannot be demonstrated.","ALL","2 Years","30 Years",{"count":20,"type":21},40,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","The goal of this clinical study is to find out whether L-serine dietary supplementation helps improve overall clinical functioning in children and young adults (2-30 years) with GRIN-related neurodevelopmental disorders (GRIN-NDD) caused by loss-of-function (LoF) variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D. It will also assess the safety and tolerability of L-serine.\n\nThe main questions it aims to answer are:\n\nDoes L-serine improve overall clinical status, measured mainly by the Clinical Global Impression-Severity (CGI-S) score?\n\nDoes L-serine improve behaviour, cognition, adaptive functioning, motor skills, sleep, and (in those with epilepsy) seizure frequency and EEG findings?\n\nWhat side effects or medical problems occur during L-serine compared with placebo?\n\nDo neurophysiological measures (including TMS-EMG\u002FTMS-EEG) change with treatment and potentially act as biomarkers of response?\n\nResearchers will compare L-serine to a placebo (maltodextrin powder with similar appearance\u002Ftexture) using a randomised, double-blind, placebo-controlled \"n-of-1\" approach, where each participant receives both treatments in alternating periods. Results from multiple single-patient trials will then be combined (aggregated) to estimate the overall treatment effect across the study population.\n\nParticipants will:\n\nComplete a 4-week baseline period with assessments (and seizure diary use where applicable)\n\nReceive L-serine and placebo in alternating 3-month periods within each cycle (minimum 2 cycles, up to 4 cycles; each cycle lasts 6 months)\n\nTake the assigned study product by mouth 3 times per day at 500 mg\u002Fkg\u002Fday (maximum 30 g\u002Fday for participants ≥60 kg)\n\nHave the first 7 days of each 3-month period treated as washout, with data from that week not analysed\n\nAttend regular clinic visits for clinical exams, safety labs, and standardized assessments of global status, behaviour\u002Fcognition, motor function, and sleep\n\nIf they have epilepsy: keep a seizure diary and undergo EEG assessments after each treatment period\n\nIn some sites (Italy and France): undergo TMS-based neurophysiology testing\n\nOptionally, a subset may join a cellular biomarker substudy (blood collection to generate iPSC-derived neuronal models and organoids) to explore treatment effects in variant-specific lab models.",[27,28,29,30,31,32,33],"GRIN-related Disorders","GRIN1","GRIN2A","GRIN2B","GRIN2D","Epilepsy","Neurodevelopmental Disorder (Diagnosis)","RECRUITING","2026-01-26",{"date":37,"type":38},"2026-01-29","ACTUAL",{"date":40,"type":38},"2025-08-29",{"date":42,"type":21},"2028-06",{"name":44,"class":45},"Meyer Children's Hospital IRCCS","OTHER",3,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":4,"briefSummary":56,"conditions":57,"keywords":238,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":274,"lastUpdatePostDateStruct":275,"startDateStruct":277,"completionDateStruct":279,"leadSponsor":281,"locationsCount":5},"100151071","online-study-of-people-who-have-genetic-changes-and-features-of-autism-simons-searchlight-100151071","NCT01238250","Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight","Inclusion Criteria:\n\n* Subjects of any age with a genetic condition on our eligible list along with their biological family members. Current list can be found at: https:\u002F\u002Fwww.simonssearchlight.org\u002Fresearch\u002Fwhat-we-study\u002F\n* Must be fluent in English or a supported language. Current supported languages are Spanish, French, and Dutch, with more to come.\n* Able to register and participate through our online platform, which can be accessed through any device able to connect to the internet.\n* Able and willing to provide consent.\n\nExclusion Criteria:\n\n-Some genetic changes that we study have regions or variants that are not eligible for our research. This is determined during our laboratory review that is completed by trained and certified genetic counselors. These specific ineligible regions or variants can change frequently.",{"count":54,"type":21},100000,"OBSERVATIONAL","Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.",[58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,29,30,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,28,31,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237],"16P11.2 Deletion Syndrome","16p11.2 Duplications","1Q21.1 Deletion","1Q21.1 Microduplication Syndrome (Disorder)","ACTL6B","ADNP","AHDC1","ANK2","ANKRD11","ARID1B","ASH1L","BCL11A","CHAMP1","CHD2","CHD8","CSNK2A1","CTBP1","CTNNB1 Gene Mutation","CUL3","DDX3X","DNMT3A","DSCAM","DYRK1A","FOXP1","HIVEP2-Related Intellectual Disability","HNRNPH2","KATNAL2","KDM5B","KDM6B","KMT2C Gene Mutation","KMT2E","KMT5B","MBD5","MED13L","PACS1","PPP2R5D-Related Intellectual Disability","PTCHD1","REST","SCN2A Encephalopathy","SETBP1 Gene Mutation","SETD5","SMARCA4 Gene Mutation","SMARCC2","STXBP1 Encephalopathy With Epilepsy","SYNGAP1-Related Intellectual Disability","TBR1","ARHGEF9","HNRNPU","PPP3CA","PPP2R1A","SLC6A1","2p16.3 Deletions","5q35 Deletions","5q35 Duplications","7q11.23 Duplications","15Q13.3 Deletion Syndrome","16p11.2 Triplications","16P12.2 Microdeletion","16P13.11 Microdeletion Syndrome (Disorder)","17Q12 Microdeletion Syndrome (Disorder)","17Q12 Duplication Syndrome","17Q21.31 Deletion Syndrome","17q21.3 Duplications","ACTB","ADSL","AFF2","ALDH5A1","ANK3","ARX","ATRX Gene Mutation","AUTS2 Syndrome","BCKDK","BRSK2","CACNA1C","CAPRIN1","CASK","CASZ1","CHD3","CIC","CNOT3","CREBBP Gene Mutation","CSDE1","CTCF","DEAF1","DHCR7","DLG4","EBF3","EHMT1","EP300 Gene Mutation","GIGYF1","IQSEC2-Related Syndromic Intellectual Disability","IRF2BPL","KANSL1","KCNB1","KDM3B","NEXMIF","KMT2A","MBOAT7","MEIS2","MYT1L","NAA15","NBEA","NCKAP1","NIPBL","NLGN2","NLGN3","NLGN4X","NR4A2","NRXN1","NRXN2","NSD1 Gene Mutation","PHF21A","PHF3","PHIP","POMGNT1","PSMD12","RELN","RERE","RFX3","RIMS1","RORB","SCN1A","SETD2 Gene Mutation","SHANK2","SIN3A","SLC9A6","SON","SOX5","SPAST","SRCAP","TAOK1","TANC2","TCF20","TLK2","TRIO","TRIP12","UPF3B","USP9X","VPS13B","WAC","WDFY3","ZBTB20","ZNF292","ZNF462","2Q37 Deletion Syndrome","9q34 Duplications","15q15 Deletions","15Q24 Deletion","NR3C2","SYNCRIP","2q34 Duplication","2q37.3 Deletion","6q16 Deletion","15q11.2 BP1-BP2 Deletion","16p13.3 Deletion","17Q11.2 Microduplication Syndrome (Disorder)","17p13.3","Xq28 Duplication","CLCN4","CSNK2B","DYNC1H1","EIF3F","GNB1","MED13","MEF2C","RALGAPB","SCN1B","YY1","Xp11.22 Duplication","PACS2","MAOA","MAOB","HNRNPC","HNRNPD","HNRNPK","HNRNPR","HNRNPUL2","5P Deletion Syndrome","TCF7L2 Gene Mutation","HECW2",[239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,63,66,67,260,62,64,261,65,68,69,71,72,262,76,80,81,30,86,88,90,91,95,263,100,264,265,83,266,70,73,74,77,78,79,29,84,85,267,89,268,92,94,269,98,270,271,103,104,105,272,107,108,227,228,229,230,231,232,233,234,235,273,237],"16p11.2","16p11.2 del","16p11.2 deletion","16p11.2 dup","16p11.2 duplication","chromosome 16","chromosome 16p","chromosome 16p11","chromosome 16p11.2","1q21.1","1q21.1 del","1q21.1 deletion","1q21.1 dup","1q21.1 duplication","chromosome 1","chromosome 1q","chromosome 1q21","chromosome 1q21.1","genetic mutation","genetic variant","gene variant","ASXL3","BAF190","CTNNB1","SCN2A","SYNGAP1","HIVEP2","PPP2R5D","KMT2C","SUV420H1","SETBP1","SMARCA4","STXBP1","PPP2B","TCF7L2","2025-06-03",{"date":276,"type":38},"2025-06-06",{"date":278,"type":4},"2010-10",{"date":280,"type":21},"2050-10",{"name":282,"class":45},"Simons Searchlight"]