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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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 Recruiting Longitudinal Studies of Brain Structure and Function in MPS Disorders
Conditions: Mucopolysaccharidosis Type I;   Mucopolysaccharidosis Type II;   Mucopolysaccharidosis Type VI
Intervention:
4 Completed Effects of Creatine Supplementation in Rett Syndrome
Condition: Rett Syndrome
Interventions: Dietary Supplement: Creatine monohydrate;   Dietary Supplement: Placebo
5 Completed Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate;   Drug: interferon beta;   Drug: thalidomide
6 Unknown  Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: donepezil hydrochloride
7 Terminated An Open Label Extension Study in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: arbaclofen
8 Completed A Safety Study of NNZ-2566 in Patients With Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: NNZ-2566;   Drug: Placebo
9 Unknown  Teaching Math Skills to Individuals With Fragile X Syndrome
Conditions: Developmental Disabilities;   Fragile X Syndrome
Intervention: Behavioral: discrete-trial training
10 Completed
Has Results
Safety and Tolerability of the D1 Dopamine Receptor Antagonist Ecopipam in Patients With Lesch-Nyhan Disease
Condition: Lesch-Nyhan Disease
Intervention: Drug: Ecopipam
11 Recruiting A Safety Study of NNZ-2566 in Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: NNZ-2566;   Drug: Placebo
12 Completed Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
13 Withdrawn Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)
Conditions: X-Linked Adrenoleukodystrophy;   Adrenomyeloneuropathy
Intervention: Drug: Sobetirome
14 Terminated Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
15 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
16 Completed The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Condition: Rett Syndrome
Intervention:
17 Completed Nutritional Aspects of Rett Syndrome
Condition: Rett Syndrome
Intervention: Procedure: Metabolic assessment with body composition evaluation
18 Completed
Has Results
Trial of Minocycline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: minocycline hydrochloride;   Drug: Placebo
19 Completed Phase 2 Study of EPI-743 for Treatment of Rett Syndrome
Condition: Rett Syndrome
Intervention: Drug: EPI-743
20 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:

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Indicates status has not been verified in more than two years