132 studies found for:    "Renpenning 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
2 Not yet recruiting Triac Trial II in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
3 Recruiting Triac Trial in MCT8 Patients
Condition: Allan-Herndon-Dudley Syndrome
Intervention: Drug: Triac
4 Not yet recruiting A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Dietary Supplement: vitamin D3
5 Recruiting Pharmacological Treatment of Rett Syndrome With Statins
Condition: Rett Syndrome
Intervention: Drug: Lovastatin
6 Not yet recruiting An Exploratory Trial of Ketamine for the Treatment of Rett Syndrome
Condition: Rett Syndrome
Intervention: Procedure: Intravenous infusion
7 Recruiting Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
Conditions: Metachromatic Leukodystrophy;   Adrenoleukodystrophy
Intervention: Genetic: transduced CD34+ hematopoietic stem cell
8 Recruiting Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Conditions: Spinal Muscular Atrophy;   Charcot-Marie-Tooth Disease;   Muscular Dystrophy;   Spinal Muscular Atrophy With Respiratory Distress 1;   Amyotrophic Lateral Sclerosis;   Motor Neuron Disease;   Neuromuscular Disease;   Peroneal Muscular Atrophy;   Fragile X Syndrome
Intervention: Other: sample collection
9 Not yet recruiting Fragile X Syndrome Decision Aid
Condition: Fragile X Syndrome (FXS)
Interventions: Other: Paper-Based Informed Consent;   Device: Tablet-Based Consent
10 Not yet 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
11 Recruiting Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
Conditions: Mucopolysaccharidosis Type I;   Mucopolysaccharidosis Type II;   Mucopolysaccharidosis Type VI
Interventions: Drug: Adalimumab;   Other: Placebo
12 Not yet recruiting Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
Conditions: Osteopenia;   Spinal Muscular Atrophy;   Cerebral Palsy;   Muscular Dystrophy;   Spina Bifida;   Rett Syndrome
Intervention: Other: Assisted Standing Treatment Program
13 Enrolling by invitation Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients With Hunter Syndrome That Have Completed Study HGT-HIT-094
Condition: Hunter Syndrome
Intervention: Drug: Idursulfase-IT
14 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
15 Not yet recruiting Analysis of the Glutathione Cycle in Children With Rett Syndrome
Condition: Rett Syndrome
16 Recruiting Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome
Condition: Mucopolysaccharidosis II
Intervention: Biological: AGT-182
17 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
18 Available Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
Condition: X-linked Adrenoleukodystrophy
Intervention: Drug: Lorenzo's Oil
19 Recruiting Observational Study to Evaluate Allogeneic HSCT Outcomes for CCALD
Condition: X-linked Adrenoleukodystrophy Cerebral Childhood
Intervention: Genetic: Allo-HSCT
20 Not yet recruiting Citocoline for Treatment of FXTAS
Condition: Balance and Cognitive Deficits in Fragile X-associated Tremor Ataxia Syndrome
Intervention: Drug: citocoline

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Indicates status has not been verified in more than two years