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 Not yet recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Completed A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants
Condition: Adrenomyeloneuropathy
Interventions: Drug: N-acetylcysteine;   Drug: lipoic acid;   Drug: vitamin E
4 Completed The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)
Conditions: X-linked Adrenoleukodystrophy;   Adrenomyeloneuropathy
Intervention: Drug: Bezafibrate
5 Completed Safety and Efficacy of Hunterase
Condition: Hunter Syndrome
Intervention: Biological: Hunterase
6 Unknown  Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Minocycline
7 Unknown  Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Condition: Fragile X Syndrome
Intervention:
8 Recruiting Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: AFQ056
9 Recruiting Trial of Sertraline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Sertraline;   Drug: Placebo
10 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
11 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
12 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
13 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
14 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
15 Completed Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
16 Completed Aripiprazole in Fragile X Syndrome
Conditions: Fragile X Syndrome;   Behavioral Problems Associated With Fragile X Syndrome
Intervention: Drug: Aripiprazole
17 Completed Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
18 Completed Copper Histidine Therapy for Menkes Diseases
Condition: Kinky Hair Syndrome
Intervention: Drug: Copper Histidine
19 Not yet recruiting UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy;   Batten Disease;   Mucopolysaccharidosis II;   Leukodystrophy, Globoid Cell;   Leukodystrophy, Metachromatic;   Neimann Pick Disease;   Pelizaeus-Merzbacher Disease;   Sandhoff Disease;   Tay-Sachs Disease;   Brain Diseases, Metabolic, Inborn
Intervention: Biological: DUOC-01
20 Recruiting Placebo Controlled Trial of Dextromethorphan in Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: placebo

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Indicates status has not been verified in more than two years