Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
120 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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"MECP2 duplication syndrome" OR "Mental Retardation, X-Linked" (120 records)
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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 Recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Terminated Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Conditions: Mucopolysaccharidoses;   Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis IV;   Mucopolysaccharidosis VI
Intervention: Other: Dried blood spot test for MPS
4 Recruiting A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Conditions: Parkinson Disease;   Huntington Disease;   Autistic Spectrum Disorders;   Fragile X Syndrome;   Alzheimer Disease;   Mild Cognitive Impairment
Intervention: Drug: [18F]FPEB
5 Completed
Has Results
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
Conditions: Hunter Syndrome;   Mucopolysaccharidosis II;   MPS II
Intervention: Biological: Idursulfase
6 Unknown  Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
Conditions: Fragile X-Associated Tremor/Ataxia Syndrome;   Fragile X Premutation Carriers
Intervention: Drug: Memantine
7 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
8 Completed An Open-Label Trial of Donepezil in Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: donepezil
9 Recruiting Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Conditions: Mucopolysaccharidosis II;   MPS II;   Hunter Syndrome
Intervention:
10 Terminated Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
11 Recruiting A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
Conditions: Childhood Cerebral Adrenoleukodystrophy;   (X-linked Adrenoleukodystrophy Cerebral Childhood)
Interventions: Genetic: Lenti-D Drug Product;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Filgrastim
12 Completed Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: AFQ056
13 Completed Nutritional Aspects of Rett Syndrome
Condition: Rett Syndrome
Intervention: Procedure: Metabolic assessment with body composition evaluation
14 Completed
Has Results
Trial of Minocycline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: minocycline hydrochloride;   Drug: Placebo
15 Completed The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Condition: Rett Syndrome
Intervention:
16 Recruiting Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
Condition: Rett Syndrome
Intervention: Drug: Glatiramer Acetate
17 Completed Acamprosate in Youth With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Autism Spectrum Disorders
Intervention: Drug: Acamprosate
18 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
19 Completed Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
20 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome, MECP2 Duplication dIsorder, and RTT-related Conditions
Intervention:

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Indicates status has not been verified in more than two years