121 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 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
4 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
5 Completed Safety and Efficacy of Hunterase
Condition: Hunter Syndrome
Intervention: Biological: Hunterase
6 Unknown  Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Condition: Fragile X Syndrome
Intervention:
7 Unknown  Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Minocycline
8 Terminated Ecopipam Treatment of Self-Injurious Behavior in Subjects With Lesch-Nyhan Disease
Conditions: Lesch-Nyhan Disease;   Self-injurious Behavior
Intervention: Drug: Ecopipam
9 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
10 Completed A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants
Condition: Adrenomyeloneuropathy
Interventions: Drug: N-acetylcysteine;   Drug: lipoic acid;   Drug: vitamin E
11 Completed The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)
Conditions: X-linked Adrenoleukodystrophy;   Adrenomyeloneuropathy
Intervention: Drug: Bezafibrate
12 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
13 Completed A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107
Condition: Fragile X Syndrome
Intervention: Drug: STX107
14 Recruiting Genetic and Physical Characteristics of Rett Syndrome
Condition: Rett Syndrome
Intervention:
15 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)
16 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
17 Recruiting Ganaxolone Treatment in Children With Fragile X Syndrome
Condition: Fragile x Syndrome
Interventions: Drug: Ganaxolone;   Drug: Placebo
18 Completed Riluzole in Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Riluzole
19 Completed Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
Condition: Rett Syndrome
Intervention: Drug: rhIGF-1
20 Recruiting A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: MG01CI extended-release tablet

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Indicates status has not been verified in more than two years