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122 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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Rank Status Study
21 Active, not recruiting Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
Conditions: Hurler Syndrome (MPS I);   Hurler-Scheie Syndrome With Early Neurologic Involvement and/or Sensitization to Enzyme Replacement Therapy (ERT);   Hunter Syndrome (MPS II);   Sanfilippo Syndrome (MPS III);   Krabbe Disease (Globoid Leukodystrophy);   Metachromatic Leukodystrophy (MLD);   Adrenoleukodystrophy (ALD and AMN);   Sandhoff Disease;   Tay Sachs Disease;   Pelizaeus Merzbacher (PMD);   Niemann-Pick Disease;   Alpha-mannosidosis
Intervention: Biological: Enriched Hematopoetic Stem Cell Transplantation/novel platform technology
22 Unknown  Teaching Math Skills to Individuals With Fragile X Syndrome
Conditions: Developmental Disabilities;   Fragile X Syndrome
Intervention: Behavioral: discrete-trial training
23 Unknown  Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
Conditions: Fragile X-Associated Tremor/Ataxia Syndrome;   Fragile X Premutation Carriers
Intervention: Drug: Memantine
24 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
25 Completed The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Condition: Rett Syndrome
Intervention:
26 Completed
Has Results
Trial of Minocycline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: minocycline hydrochloride;   Drug: Placebo
27 Completed Nutritional Aspects of Rett Syndrome
Condition: Rett Syndrome
Intervention: Procedure: Metabolic assessment with body composition evaluation
28 Recruiting Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Behavioral: exercise training
29 Withdrawn Trial of Kuvan in Lesch-Nyhan Disease
Condition: Behavioral Manifestations of Lesch-Nyhan Disease
Intervention: Drug: sapropterin
30 Terminated
Has Results
Clinical Trial of Growth Hormone in MPS I, II, and VI
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI
Intervention: Drug: Somatropin (DNA origin)
31 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:
32 Terminated An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Arbaclofen
33 Completed Biomarker and DNA Collection in Subjects Participating in Protocol 22003
Condition: Fragile X Syndrome
Intervention: Drug: STX209
34 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
35 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
36 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
37 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
38 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
39 Completed Safety and Efficacy of Hunterase
Condition: Hunter Syndrome
Intervention: Biological: Hunterase
40 Unknown  Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Minocycline

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Indicates status has not been verified in more than two years