112 studies found for:    "PPM-X 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 Not yet recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 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:
4 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
5 Terminated Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
6 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
7 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
8 Recruiting EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Condition: Fragile-X Syndrome
Intervention:
9 Completed Study of the Pathogenesis of Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: topiramate;   Drug: Donepezil
10 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
11 Completed Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
Conditions: Autism;   Asperger's Syndrome;   Rett's Disorder
Intervention:
12 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
13 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
14 Recruiting Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Conditions: Mucopolysaccharidosis Type I (MPS I);   Mucopolysaccharidosis Type II (MPS II);   Mucopolysaccharidosis Type III (MPS III);   Mucopolysaccharidosis Type VI (MPS VI);   Krabbe Disease
Intervention:
15 Completed Creatine Metabolism in Rett Syndrome
Condition: Rett Syndrome
Intervention:
16 Not yet recruiting Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Conditions: Mucopolysaccharidosis;   Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI
Intervention:
17 Completed Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
Condition: Rett Syndrome
Intervention: Drug: rhIGF-1
18 Recruiting Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
Condition: Adrenoleukodystrophy
Interventions: Drug: glyceryl trierucate;   Drug: glyceryl trioleate
19 Enrolling by invitation Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment
Conditions: Autism Spectrum Disorders;   Psychosis;   Fragile X Syndrome
Intervention:
20 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

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