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122 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 Recruiting Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Healthy Volunteers
Intervention:
4 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
5 Terminated An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Arbaclofen
6 Completed Biomarker and DNA Collection in Subjects Participating in Protocol 22003
Condition: Fragile X Syndrome
Intervention: Drug: STX209
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 Active, not recruiting Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women
Conditions: Healthy;   Fragile X Syndrome
Intervention: Procedure: Follicle Aspiration
10 Completed Metabolic Evaluation of Nutrition in Rett Syndrome
Condition: Rett Syndrome
Intervention:
11 Recruiting Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF)
Condition: Fragile X Syndrome
Interventions: Dietary Supplement: Epigallocatechin-3-gallate (EGCG);   Dietary Supplement: Placebo
12 Unknown  Teaching Math Skills to Individuals With Fragile X Syndrome
Conditions: Developmental Disabilities;   Fragile X Syndrome
Intervention: Behavioral: discrete-trial training
13 Recruiting The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
Condition: Hunter Syndrome
Intervention:
14 Withdrawn Trial of Kuvan in Lesch-Nyhan Disease
Condition: Behavioral Manifestations of Lesch-Nyhan Disease
Intervention: Drug: sapropterin
15 Recruiting Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Behavioral: exercise training
16 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
17 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
18 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
19 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
20 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

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Indicates status has not been verified in more than two years