126 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
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"MECP2 duplication syndrome" OR "Mental Retardation, X-Linked" (126 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 Not yet recruiting Triac Trial II in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
4 Recruiting Ganaxolone Treatment in Children With Fragile X Syndrome
Condition: Fragile x Syndrome
Interventions: Drug: Ganaxolone;   Drug: Placebo
5 Completed Riluzole in Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Riluzole
6 Completed
Has Results
Trial of Minocycline to Treat Children With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: minocycline hydrochloride;   Drug: Placebo
7 Completed The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Condition: Rett Syndrome
Intervention:
8 Completed Nutritional Aspects of Rett Syndrome
Condition: Rett Syndrome
Intervention: Procedure: Metabolic assessment with body composition evaluation
9 Suspended Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
10 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
11 Enrolling by invitation Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment
Conditions: Autism Spectrum Disorders;   Psychosis;   Fragile X Syndrome
Intervention:
12 Unknown  Teaching Math Skills to Individuals With Fragile X Syndrome
Conditions: Developmental Disabilities;   Fragile X Syndrome
Intervention: Behavioral: discrete-trial training
13 Completed
Has Results
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Conditions: Hunter Syndrome;   Mucopolysaccharidosis II (MPS II)
Intervention: Biological: Idursulfase
14 Completed
Has Results
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Condition: Hunter Syndrome
Interventions: Other: Control;   Drug: Idursulfase IT (1 mg);   Drug: Idursulfase IT (10 mg);   Drug: Idursulfase IT (30 mg)
15 Completed Randomized Controlled Study of Donepezil in Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: donepezil hydrochloride;   Drug: sugar pill
16 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:
17 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
18 Unknown  Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: donepezil hydrochloride
19 Recruiting Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Conditions: Menkes Disease;   Occipital Horn Syndrome;   Unexplained Copper Deficiency
Intervention: Drug: Copper Histidine
20 Completed Effects of Creatine Supplementation in Rett Syndrome
Condition: Rett Syndrome
Interventions: Dietary Supplement: Creatine monohydrate;   Dietary Supplement: Placebo

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Indicates status has not been verified in more than two years