120 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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Study Details
Participant Details
Identifiers
Dates
Rank Status Study
1 Enrolling by invitation Genetic Disease Gene Identification
Conditions: Congenital Vertical Talus;   Familial Encephalopathy With Neuroserpin Inclusion Bodies;   Idiopathic Generalised Epilepsy;   Familial Dementia;   X-Linked Mental Retardation
Intervention:
2 Not yet recruiting Triac Trial II in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
4 Recruiting The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
Condition: Hunter Syndrome
Intervention:
5 Completed Creatine Metabolism in Rett Syndrome
Condition: Rett Syndrome
Intervention:
6 Recruiting Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Conditions: Mucopolysaccharidosis;   Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI
Intervention:
7 Recruiting Biomarker for Hunter Disease
Conditions: Lysosomal Storage Diseases;   Hunter Disease;   Mucopolysaccharidoses
Intervention:
8 Completed Advanced Grandparental Age as a Risk Factor for Autism
Conditions: Autistic Disorder;   Pervasive Developmental Disorder;   Asperger Syndrome;   Childhood Disintegrative Disorder;   Rett Syndrome
Intervention:
9 Completed Effects of CX516 on Functioning in Fragile X Syndrome and Autism
Conditions: Fragile X Syndrome;   Autism
Intervention: Drug: CX516 (Ampalex®)
10 Completed A Study With RO4917523 in Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Placebo;   Drug: RO4917523
11 Recruiting EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Condition: Fragile-X Syndrome
Intervention:
12 Completed Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
Condition: Fragile X Syndrome
Intervention: Drug: AFQ056
13 Recruiting Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Healthy Volunteers
Intervention:
14 Completed
Has Results
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: placebo;   Drug: oxytocin 24IU;   Drug: oxytocin 48IU
15 Terminated Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
16 Recruiting A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
Conditions: Childhood Cerebral Adrenoleukodystrophy;   (X-linked Adrenoleukodystrophy Cerebral Childhood)
Interventions: Genetic: Lenti-D Drug Product;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Filgrastim
17 Recruiting An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate  (Copaxone®)
18 Terminated The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry
Conditions: Fragile X Syndrome;   FMR1 Premutation;   Primary Ovairan Insufficiency;   Premature Ovarian Failure;   Premature Menopause
Intervention:
19 Completed Randomized Controlled Study of Donepezil in Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: donepezil hydrochloride;   Drug: sugar pill
20 Completed Efficacy, Safety and Tolerability of AFQ056 in Fragile X Patients
Condition: Fragile X Syndrome
Interventions: Drug: AF056;   Drug: Placebo

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Indicates status has not been verified in more than two years