119 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 Not yet recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Completed Advanced Grandparental Age as a Risk Factor for Autism
Conditions: Autistic Disorder;   Pervasive Developmental Disorder;   Asperger Syndrome;   Childhood Disintegrative Disorder;   Rett Syndrome
Intervention:
4 Recruiting Biomarker for Hunter Disease
Conditions: Lysosomal Storage Diseases;   Hunter Disease;   Mucopolysaccharidoses
Intervention:
5 Recruiting Trial of Sertraline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Sertraline;   Drug: Placebo
6 Completed
Has Results
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
Conditions: Hunter Syndrome;   Mucopolysaccharidosis II;   MPS II
Intervention: Biological: Idursulfase
7 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine
8 Not yet recruiting A Prospective and Partially Retrospective Study to Characterize Safety and Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Childhood Cerebral Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy Cerebral Childhood
Intervention: Genetic: Allogeneic Hematopoietic Stem Cell Transplantation
9 Completed
Has Results
Stem Cell Transplant for Inborn Errors of Metabolism
Conditions: Adrenoleukodystrophy;   Metachromatic Leukodystrophy;   Globoid Cell Leukodystrophy;   Gaucher's Disease;   Fucosidosis;   Wolman Disease;   Niemann-Pick Disease;   Batten Disease;   GM1 Gangliosidosis;   Tay Sachs Disease;   Sandhoff Disease
Interventions: Procedure: Stem Cell Transplant;   Drug: Busulfan, Cyclophosphamide, Antithymocyte Globulin
10 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
11 Recruiting MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI;   Mucopolysaccharidosis VII;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux Lamy Syndrome;   Sly Syndrome;   Glycoprotein Metabolic Disorders;   Alpha Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Osteopetrosis;   Rett Syndrome;   Sphingolipidosis;   Gangliosidosis;   Globoid Cell Leukodystrophy;   Metachromatic Leukodystrophy;   Niemann Pick B;   Niemann Pick C Subtype 2;   I-cell Disease
Interventions: Procedure: blood stem cell transplant;   Drug: Rabbit Anti-Thymocyte Globulin (ATG);   Drug: Fludarabine;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Cyclosporine A (CSA);   Drug: Methylprednisolone;   Drug: Mycophenolate Mofetil (MMF);   Drug: Granulocyte-Colony Stimulating Factor (G-CSF);   Drug: Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF);   Drug: N-acetylcysteine;   Drug: Celecoxib;   Drug: Vitamin E;   Drug: Alpha Lipoic Acid
12 Completed Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: arbaclofen;   Drug: placebo
13 Completed Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
Condition: Fragile X Syndrome
Intervention: Drug: STX209
14 Unknown  Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
Conditions: Fragile X-Associated Tremor/Ataxia Syndrome;   Fragile X Premutation Carriers
Intervention: Drug: Memantine
15 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
16 Completed A Study of RO4917523 in Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Placebo;   Drug: RO4917523
17 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
18 Completed Randomized Controlled Study of Donepezil in Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: donepezil hydrochloride;   Drug: sugar pill
19 Unknown  Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: donepezil hydrochloride
20 Completed Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate;   Drug: interferon beta;   Drug: thalidomide

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Indicates status has not been verified in more than two years