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121 studies found for:    "PPM-X syndrome" OR "Mental Retardation, X-Linked"
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Rank Status Study
21 Recruiting UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy;   Batten Disease;   Mucopolysaccharidosis II;   Leukodystrophy, Globoid Cell;   Leukodystrophy, Metachromatic;   Neimann Pick Disease;   Pelizaeus-Merzbacher Disease;   Sandhoff Disease;   Tay-Sachs Disease;   Brain Diseases, Metabolic, Inborn
Intervention: Biological: DUOC-01
22 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
23 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:
24 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
25 Active, not recruiting Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
Conditions: Hurler Syndrome (MPS I);   Hurler-Scheie Syndrome With Early Neurologic Involvement and/or Sensitization to Enzyme Replacement Therapy (ERT);   Hunter Syndrome (MPS II);   Sanfilippo Syndrome (MPS III);   Krabbe Disease (Globoid Leukodystrophy);   Metachromatic Leukodystrophy (MLD);   Adrenoleukodystrophy (ALD and AMN);   Sandhoff Disease;   Tay Sachs Disease;   Pelizaeus Merzbacher (PMD);   Niemann-Pick Disease;   Alpha-mannosidosis
Intervention: Biological: Enriched Hematopoetic Stem Cell Transplantation/novel platform technology
26 Terminated Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
Conditions: Mucopolysaccharidoses;   Mucopolysaccharidosis I;   Mucopolysaccharidosis II;   Mucopolysaccharidosis IV;   Mucopolysaccharidosis VI
Intervention: Other: Dried blood spot test for MPS
27 Recruiting A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Conditions: Parkinson Disease;   Huntington Disease;   Autistic Spectrum Disorders;   Fragile X Syndrome;   Alzheimer Disease;   Mild Cognitive Impairment
Intervention: Drug: [18F]FPEB
28 Completed Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
Conditions: Autism;   Asperger's Syndrome;   Rett's Disorder
Intervention:
29 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
30 Recruiting Longitudinal Studies of Brain Structure and Function in MPS Disorders
Conditions: Mucopolysaccharidosis Type I;   Mucopolysaccharidosis Type II;   Mucopolysaccharidosis Type VI
Intervention:
31 Completed Effects of Creatine Supplementation in Rett Syndrome
Condition: Rett Syndrome
Interventions: Dietary Supplement: Creatine monohydrate;   Dietary Supplement: Placebo
32 Recruiting Treatment of Rett Syndrome With Recombinant Human IGF-1
Condition: Rett Syndrome
Interventions: Drug: Recombinant Human Insulin Growth Factor 1 (rhIGF-1);   Drug: Placebo
33 Unknown  Study of Bile Acids in Patients With Peroxisomal Disorders
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Bifunctional Enzyme Deficiency;   Adrenoleukodystrophy
Interventions: Drug: chenodeoxycholic acid;   Drug: cholic acid;   Drug: ursodiol
34 Terminated A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy
Conditions: Adrenomyeloneuropathy;   Adrenoleukodystrophy
Intervention: Drug: Lorenzo's oil
35 Recruiting Osteoporosis in RETT Syndrome
Condition: RETT Syndrome With Proven MECP2 Mutation
Intervention: Other: biological markers and evaluation of the mineral density at the lumber spine using DEXA
36 Recruiting Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Healthy Volunteers
Intervention:
37 Completed Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
Condition: Fragile X Syndrome
Intervention: Drug: AFQ056
38 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
39 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)
40 Completed Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
Condition: Hunter Syndrome
Interventions: Behavioral: Neurobehavioral testing;   Other: Visual and auditory assessments

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Indicates status has not been verified in more than two years