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163 studies found for:    "PPM-X syndrome" OR "Mental Retardation, X-Linked"
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Rank Status Study
1 Recruiting Clinical Phenotyping and Characterization of Neural Networks and Cognitive Processes Involved in Mental Retardation X-linked
Condition: X-linked Mental Retardation
Intervention: Behavioral: Neuropsychological, cognitive and behavioral assessment
2 Recruiting Observational Study of Males With Creatine Transporter Deficiency
Condition: Creatine Deficiency, X-linked
Intervention:
3 Unknown  Genetic Disease Gene Identification
Conditions: Congenital Vertical Talus;   Familial Encephalopathy With Neuroserpin Inclusion Bodies;   Idiopathic Generalised Epilepsy;   Familial Dementia;   X-Linked Mental Retardation
Intervention:
4 Not yet recruiting Triac Trial II in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
5 Active, not recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
6 Recruiting Rare Diseases Clinical Research Network: Neurophysiological Correlates
Conditions: Rett Syndrome, Preserved Speech Variant;   Mecp2 Duplication Syndrome;   Rett-related Disorders
Intervention: Procedure: Auditory and Visual Event-related Potentials and EEG
7 Recruiting Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
Conditions: Fragile X Syndrome;   Genetic Diseases
Interventions: Drug: Lovastatin;   Drug: Placebo
8 Not yet recruiting Study of Idursulfase-beta (GC1111) in Hunter Syndrome
Condition: Mucopolysaccharidosis II
Interventions: Biological: idursulfase beta;   Biological: idursulfase
9 Recruiting Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
Condition: Hunter Syndrome
Intervention: Drug: Elaprase for intravenous (IV) infusion
10 Recruiting Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome
Condition: Mucopolysaccharidosis II
Intervention: Drug: AGT-182
11 Completed Estrogen Receptors Beta (ER-B) as Therapeutic Targets for the Improvement of Cognitive Performance in Fragile-X (TESXF)
Condition: Fragile X Syndrome
Interventions: Dietary Supplement: EGCG;   Dietary Supplement: Placebo;   Other: cognitive training
12 Terminated EXPLAIN -FragilE X Registry: An exPlorative Longitudinal Study for chAracterIzation, Treatment Pathways and patieNt-related Outcomes
Condition: Fragile-X Syndrome
Intervention:
13 Unknown  Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Condition: Fragile X Syndrome
Intervention:
14 Completed To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients
Condition: Mucopolysaccharidosis II
Interventions: Drug: GC1111_0.5mg/kg;   Drug: GC1111_1.0mg/kg;   Drug: Elaprase_0.5mg/kg
15 Completed A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
Condition: Fragile X Syndrome
Intervention: Drug: STX107
16 Completed Biomarker and DNA Collection in Subjects Participating in Protocol 22003
Condition: Fragile X Syndrome
Intervention: Drug: STX209
17 Active, not recruiting Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women
Conditions: Healthy;   Fragile X Syndrome
Intervention: Procedure: Follicle Aspiration
18 Recruiting Natural History of Rett Syndrome & Related Disorders
Conditions: Rett Syndrome;   MECP2 Duplication dIsorder;   RTT-related Conditions
Intervention:
19 Recruiting Biobanking of Rett Syndrome and Related Disorders
Conditions: Rett Syndrome;   MECP2 Duplication;   CDKL5;   FOXG1 Disorders
Intervention:
20 Active, not recruiting Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Conditions: Mucopolysaccharidosis;   Hurler Syndrome;   Hunter Syndrome;   Maroteaux-Lamy Syndrome;   Sly Syndrome;   Alpha Mannosidosis;   Fucosidosis;   Aspartylglucosaminuria;   Adrenoleukodystrophy (ALD);   Krabbe Disease;   Metachromatic Leukodystrophy (MLD);   Sphingolipidoses;   Peroxisomal Disorders
Interventions: Drug: Campath-1H;   Drug: Cyclophosphamide;   Drug: Busulfan;   Procedure: Allogeneic stem cell transplantation;   Drug: Cyclosporine A;   Drug: Mycophenolate Mofetil

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Study has passed its completion date and status has not been verified in more than two years.