121 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3 Withdrawn Trial of Kuvan in Lesch-Nyhan Disease
Condition: Behavioral Manifestations of Lesch-Nyhan Disease
Intervention: Drug: sapropterin
4 Recruiting Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Behavioral: exercise training
5 Recruiting The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
Condition: Hunter Syndrome
Intervention:
6 Recruiting Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate
7 Completed Acamprosate in Youth With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Autism Spectrum Disorders
Intervention: Drug: Acamprosate
8 Completed A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
Conditions: DCild Development Disorders, Pervasive;   Autistic Disorder;   Developmental Disabilities;   Asperger Syndrome;   Rett Syndrome
Intervention: Drug: risperidone
9 Unknown  Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
Conditions: I Cell Disease;   Fucosidosis;   Globoid Cell Leukodystrophy;   Adrenoleukodystrophy;   Mannosidosis;   Niemann-Pick Disease;   Pulmonary Complications;   Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Metachromatic Leukodystrophy;   Gaucher's Disease;   Wolman Disease
Intervention:
10 Completed Copper Histidine Therapy for Menkes Diseases
Condition: Kinky Hair Syndrome
Intervention: Drug: Copper Histidine
11 Recruiting A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: MG01CI extended-release tablet
12 Completed
Has Results
An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
Condition: Hunter Syndrome
Intervention: Biological: Idursulfase
13 Completed Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: NPL-2009
14 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
15 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
16 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
17 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
18 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
19 Completed Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
Condition: Hunter Syndrome
Interventions: Behavioral: Neurobehavioral testing;   Other: Visual and auditory assessments
20 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone

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Indicates status has not been verified in more than two years