Text Size
100 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"

Modify this search | How to Use Search Results

Show Display Options
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 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:
3 Completed A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723
Condition: Mucopolysaccharidosis II
Interventions: Drug: Idursulfase;   Drug: GSK2788723
4 Recruiting Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
5 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
6 Recruiting EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Condition: Fragile-X Syndrome
Intervention:
7 Completed Study of the Pathogenesis of Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: topiramate;   Drug: Donepezil
8 Completed A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
Conditions: DCild Development Disorders, Pervasive;   Autistic Disorder;   Developmental Disabilities;   Asperger Syndrome;   Rett Syndrome
Intervention: Drug: risperidone
9 Completed Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
Conditions: Autism;   Asperger's Syndrome;   Rett's Disorder
Intervention:
10 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
11 Completed Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease
Condition: Lesch-Nyhan Syndrome
Intervention: Drug: aminomidazole carboxamide riboside
12 Completed Creatine Metabolism in Rett Syndrome
Condition: Rett Syndrome
Intervention:
13 Completed Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
Condition: Rett Syndrome
Intervention: Drug: rhIGF-1
14 Recruiting Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
15 Recruiting Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment
Conditions: Autism Spectrum Disorders;   Psychosis;   Fragile X Syndrome
Intervention:
16 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
17 Recruiting The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
18 Active, not recruiting 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
19 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
20 Active, not recruiting An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
Condition: Hunter Syndrome
Intervention:
To Top

Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results
† Indicates status has not been verified in more than two years