120 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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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 Recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Not yet recruiting Triac Trial II in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
4 Completed Phase 2 Study of EPI-743 for Treatment of Rett Syndrome
Condition: Rett Syndrome
Intervention: Drug: EPI-743
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 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: arbaclofen;   Drug: Placebo
10 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
11 Completed Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Cholestasis
Intervention: Drug: Cholic Acids
12 Recruiting Human Placental-Derived Stem Cell Transplantation
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Adrenoleukodystrophy;   Niemann-Pick Disease;   Metachromatic Leukodystrophy;   Wolman Disease;   Krabbe's Disease;   Gaucher's Disease;   Fucosidosis;   Batten Disease;   Severe Aplastic Anemia;   Diamond-Blackfan Anemia;   Amegakaryocytic Thrombocytopenia;   Myelodysplastic Syndrome;   Acute Myelogenous Leukemia;   Acute Lymphocytic Leukemia
Intervention: Drug: Human Placental Derived Stem Cell
13 Recruiting Study of Acamprosate in Fragile x Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: acamprosate;   Drug: Placebo
14 Completed Effects of Creatine Supplementation in Rett Syndrome
Condition: Rett Syndrome
Interventions: Dietary Supplement: Creatine monohydrate;   Dietary Supplement: Placebo
15 Recruiting Longitudinal Studies of Brain Structure and Function in MPS Disorders
Conditions: Mucopolysaccharidosis Type I;   Mucopolysaccharidosis Type II;   Mucopolysaccharidosis Type VI
Intervention:
16 Unknown  Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
Conditions: Fragile X-Associated Tremor/Ataxia Syndrome;   Fragile X Premutation Carriers
Intervention: Drug: Memantine
17 Recruiting HSCT for High Risk Inherited Inborn Errors
Conditions: Adrenoleukodystrophy;   Metachromatic Leukodystrophy;   Globoid Cell Leukodystrophy;   Tay Sachs Disease;   Sandhoffs Disease;   Wolman Disease;   I-Cell Disease;   Sanfilippo Syndrome;   GM1 Gangliosidosis
Interventions: Drug: Clofarabine;   Procedure: Total body Irradiation;   Drug: Melphalan;   Biological: Hematopoietic Stem Cell Transplantation;   Drug: Alemtuzumab;   Drug: mycophenylate mofetil;   Device: Cyclosporine A;   Drug: Hydroxyurea
18 Recruiting The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
Condition: Hunter Syndrome
Intervention:
19 Completed To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients
Condition: Mucopolysaccharidosis II
Interventions: Drug: GC1111_0.5mg/kg;   Drug: GC1111_1.0mg/kg;   Drug: Elaprase_0.5mg/kg
20 Completed A Study of RO4917523 in Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Placebo;   Drug: RO4917523

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Indicates status has not been verified in more than two years