119 studies found for:    "MECP2 duplication syndrome" OR "Mental Retardation, X-Linked"
Show Display Options
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  Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Condition: Fragile X Syndrome
Intervention:
4 Completed Safety and Efficacy of Hunterase
Condition: Hunter Syndrome
Intervention: Biological: Hunterase
5 Unknown  Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Minocycline
6 Active, not recruiting A Safety Study of NNZ-2566 in Patients With Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: NNZ-2566;   Drug: Placebo
7 Terminated An Open Label Extension Study in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: arbaclofen
8 Completed Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: AFQ056;   Drug: Placebo
9 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
10 Recruiting Ganaxolone Treatment in Children With Fragile X Syndrome
Condition: Fragile x Syndrome
Interventions: Drug: Ganaxolone;   Drug: Placebo
11 Completed Riluzole in Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Drug: Riluzole
12 Unknown  Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Dietary Supplement: Ascorbic Acid (Vitamin C) and Alpha-tocopherol (Vitamin E);   Other: Placebo
13 Completed
Has Results
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: STX209;   Drug: Placebo
14 Completed Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
Condition: Rett Syndrome
Intervention:
15 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
16 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:
17 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
18 Recruiting Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Conditions: Fragile X Syndrome;   Healthy Volunteers
Intervention:
19 Completed Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: arbaclofen;   Drug: placebo
20 Completed Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
Condition: Fragile X Syndrome
Intervention: Drug: STX209

Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results
Indicates status has not been verified in more than two years