115 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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Rank Status Study
21 Recruiting Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Condition: Hunter Syndrome
Interventions: Biological: idursulfase-IT;   Other: No IT treatment
22 Completed Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Cholestasis
Intervention: Drug: Cholic Acids
23 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
24 Completed Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: arbaclofen;   Drug: Placebo
25 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
26 Completed An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
Condition: Hunter Syndrome
Intervention: Biological: Idursulfase
27 Completed Functional Abilities in Rett Syndrome
Condition: Rett Syndrome
Intervention:
28 Completed Acamprosate in Youth With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Autism Spectrum Disorders
Intervention: Drug: Acamprosate
29 Recruiting Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate
30 Terminated The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry
Conditions: Fragile X Syndrome;   FMR1 Premutation;   Primary Ovairan Insufficiency;   Premature Ovarian Failure;   Premature Menopause
Intervention:
31 Recruiting An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett Syndrome
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate (Copaxone®)
32 Completed Randomized Controlled Study of Donepezil in Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: donepezil hydrochloride;   Drug: sugar pill
33 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
34 Completed Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
35 Completed Effects of CX516 on Functioning in Fragile X Syndrome and Autism
Conditions: Fragile X Syndrome;   Autism
Intervention: Drug: CX516 (Ampalex®)
36 Completed A Study With RO4917523 in Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: RO4917523;   Drug: Placebo
37 Completed A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
Condition: Fragile X Syndrome
Intervention: Drug: STX107
38 Terminated An Open Label Extension Study in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: arbaclofen
39 Active, not recruiting A Safety Study of NNZ-2566 in Patients With Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: NNZ-2566;   Drug: Placebo
40 Recruiting Study to Assess Safety and Efficacy of Fingolimod in Children With Rett Syndrome
Condition: Rett's Syndrome
Intervention: Drug: fingolimod (FTY720)

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Indicates status has not been verified in more than two years