118 studies found for:    "PPM-X syndrome" OR "Mental Retardation, X-Linked"
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Study Details
Participant Details
Identifiers
Dates
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 MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
Conditions: Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis VI;   Mucopolysaccharidosis VII;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux Lamy Syndrome;   Sly Syndrome;   Glycoprotein Metabolic Disorders;   Alpha Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Osteopetrosis;   Rett Syndrome;   Sphingolipidosis;   Gangliosidosis;   Globoid Cell Leukodystrophy;   Metachromatic Leukodystrophy;   Niemann Pick B;   Niemann Pick C Subtype 2;   I-cell Disease
Interventions: Procedure: blood stem cell transplant;   Drug: Rabbit Anti-Thymocyte Globulin (ATG);   Drug: Fludarabine;   Drug: Busulfan;   Drug: Cyclophosphamide;   Drug: Cyclosporine A (CSA);   Drug: Methylprednisolone;   Drug: Mycophenolate Mofetil (MMF);   Drug: Granulocyte-Colony Stimulating Factor (G-CSF);   Drug: Granulocyte-Macrophage Colony-Stimulating Factor (GM-CSF);   Drug: N-acetylcysteine;   Drug: Celecoxib;   Drug: Vitamin E;   Drug: Alpha Lipoic Acid
9 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline
10 Not yet recruiting A Prospective and Partially Retrospective Study to Characterize Safety and Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Childhood Cerebral Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy Cerebral Childhood
Intervention: Genetic: Allogeneic Hematopoietic Stem Cell Transplantation
11 Recruiting EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Condition: Fragile-X Syndrome
Intervention:
12 Completed Study of the Pathogenesis of Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: topiramate;   Drug: Donepezil
13 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
14 Completed Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
Conditions: Autism;   Asperger's Syndrome;   Rett's Disorder
Intervention:
15 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
16 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
17 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:
18 Completed Creatine Metabolism in Rett Syndrome
Condition: Rett Syndrome
Intervention:
19 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:
20 Completed Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
Condition: Rett Syndrome
Intervention: Drug: rhIGF-1

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Indicates status has not been verified in more than two years