Treatment Trials

2 Clinical Trials for Various Conditions

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      RECRUITING
      Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
      Description

      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.

      Conditions
      16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion1Q21.1 Microduplication Syndrome (Disorder)ACTL6BADNPAHDC1ANK2ANKRD11ARID1BASH1LBCL11ACHAMP1CHD2CHD8CSNK2A1CTBP1CTNNB1 Gene MutationCUL3DDX3XDNMT3ADSCAMDYRK1AFOXP1GRIN2AGRIN2BHIVEP2-Related Intellectual DisabilityHNRNPH2KATNAL2KDM5BKDM6BKMT2C Gene MutationKMT2EKMT5BMBD5MED13LPACS1PPP2R5D-Related Intellectual DisabilityPTCHD1RESTSCN2A EncephalopathySETBP1 Gene MutationSETD5SMARCA4 Gene MutationSMARCC2STXBP1 Encephalopathy With EpilepsySYNGAP1-Related Intellectual DisabilityTBR1ARHGEF9HNRNPUPPP3CAPPP2R1ASLC6A12p16.3 Deletions5q35 Deletions5q35 Duplications7q11.23 Duplications15Q13.3 Deletion Syndrome16p11.2 Triplications16P12.2 Microdeletion16P13.11 Microdeletion Syndrome (Disorder)17Q12 Microdeletion Syndrome (Disorder)17Q12 Duplication Syndrome17Q21.31 Deletion Syndrome17q21.3 DuplicationsACTBADSLAFF2ALDH5A1ANK3ARXATRX Gene MutationAUTS2 SyndromeBCKDKBRSK2CACNA1CCAPRIN1CASKCASZ1CHD3CICCNOT3CREBBP Gene MutationCSDE1CTCFDEAF1DHCR7DLG4EBF3EHMT1EP300 Gene MutationGIGYF1GRIN1GRIN2DIQSEC2-Related Syndromic Intellectual DisabilityIRF2BPLKANSL1KCNB1KDM3BNEXMIFKMT2AMBOAT7MEIS2MYT1LNAA15NBEANCKAP1NIPBLNLGN2NLGN3NLGN4XNR4A2NRXN1NRXN2NSD1 Gene MutationPHF21APHF3PHIPPOMGNT1PSMD12RELNRERERFX3RIMS1RORBSCN1ASETD2 Gene MutationSHANK2SIN3ASLC9A6SONSOX5SPASTSRCAPTAOK1TANC2TCF20TLK2TRIOTRIP12UPF3BUSP9XVPS13BWACWDFY3ZBTB20ZNF292ZNF4622Q37 Deletion Syndrome9q34 Duplications15q15 Deletions15Q24 DeletionNR3C2SYNCRIP2q34 Duplication2q37.3 Deletion6q16 Deletion15q11.2 BP1-BP2 Deletion16p13.3 Deletion17Q11.2 Microduplication Syndrome (Disorder)17p13.3Xq28 DuplicationCLCN4CSNK2BDYNC1H1EIF3FGNB1MED13MEF2CRALGAPBSCN1BYY1Xp11.22 DuplicationPACS2MAOAMAOBHNRNPCHNRNPDHNRNPKHNRNPRHNRNPUL25P Deletion SyndromeTCF7L2 Gene MutationHECW2
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      ACTIVE_NOT_RECRUITING
      Honeycomb: Evaluation of Radiprodil in Children with GRIN-related Disorder
      Description

      Study RAD-GRIN-101 is a phase 1B trial to assess safety, tolerability, PK, and potential efficacy of radiprodil for the treatment of GRIN-related disorder in children with a Gain-of-Function (GoF) genetic variant. The study is open-label, so all participants will be treated with radiprodil. Subjects' participation in the study is expected to last up to six months in Part A. After the end of part A, all participants who are still eligible can choose to continue to receive radiprodil as part of an open-label long-term treatment period (Part B).

      Conditions
      GRIN-related Disorders
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