187. 歌舞伎症候群 Kabuki syndrome Clinical trials / Disease details


臨床試験数 : 4 薬物数 : 9 - (DrugBank : 2) / 標的遺伝子数 : 2 - 標的パスウェイ数 : 11

  
No.TrialIDDate_
enrollment
Date_
registration
Public_titleScientific_titleConditionInterventionPrimary_
sponsor
Secondary_
sponsor
Recruitment_
Status
Inclusion_
agemin
Inclusion_
agemax
Inclusion_
gender
Target_
size
PhaseCountries
1NCT04722315
(ClinicalTrials.gov)
April 1, 202124/11/2020Study of Modified Atkins Diet in Kabuki SyndromePilot Clinical Trial of Modified Atkins Diet for Kabuki SyndromeKabuki SyndromeDietary Supplement: Modified Atkins dietHugo W. Moser Research Institute at Kennedy Krieger, Inc.NULLRecruiting18 YearsN/AAll15Early Phase 1United States
2NCT03855631
(ClinicalTrials.gov)
September 28, 202022/2/2019Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic DisordersExploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic DisordersKabuki Syndrome 1Genetic: Intervention on primary cultured cellsUniversity Hospital, MontpellierAssociation Française contre les Myopathies TelethonCompleted6 YearsN/AAll8France
3EUCTR2012-000432-26-NL
(EUCTR)
26/09/201227/03/2012Prospective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki SyndromeProspective study on the metabolic and linear growth effects of growh hormone treatment in children with Kabuki Syndrome - Metabolic effects of Growth Hormone Kabuki Syndrome (KS, OMIM 147920) with a mutation in MLL2 gene.
;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03]
Trade Name: Genotropin
Product Name: Genotropin
INN or Proposed INN: SOMATROPIN
Other descriptive name: recombinant DNA-derived human growth hormone
Maastricht University Medical CentreNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes
Netherlands
4NCT00723580
(ClinicalTrials.gov)
May 200824/7/2008Actigraphic Analysis of Treatment ResponseActigraphic Analysis of Treatment Response in a Six Year Old Girl With Kabuki SyndromeSleep Disorders, Circadian Rhythm;Insomnia;Psychomotor AgitationDrug: risperidoneChild Psychopharmacology InstituteNULLCompleted2 Years10 YearsFemale1N/AUnited States