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152 studies found for:    "PPM-X syndrome" OR "Mental Retardation, X-Linked"
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Study Details
Participant Details
Identifiers
Dates
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 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:
3 Recruiting Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
Conditions: Fragile X Syndrome;   Genetic Diseases
Interventions: Drug: Lovastatin;   Drug: Placebo
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 The Findings of MR Imaging in Rett Syndrome
Condition: Rett Syndrome
Intervention: Other: Rett Syndrome
7 Completed New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
Condition: Rett Syndrome
Intervention: Procedure: Blood sampling
8 Recruiting Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms
Condition: Rett Syndrome
Interventions: Drug: Sarizotan;   Drug: Placebo
9 Recruiting Pediatric Patients With Metabolic or Other Genetic Disorders
Conditions: Genetic Disorder;   Asperger Disorder;   Autism Spectrum Disorder;   Fragile X Syndrome;   Developmental Delay
Intervention:
10 Recruiting Cognitive Training for Fragile X Syndrome
Condition: Fragile X Syndrome
Intervention: Other: Working Memory Training
11 Recruiting Natural History of Rett Syndrome & Related Disorders
Conditions: Rett Syndrome;   MECP2 Duplication dIsorder;   RTT-related Conditions
Intervention:
12 Recruiting Glutaminergic Transmission in Autism : Molecular Imaging Exploration
Conditions: Autism;   Fragile-X Syndrome (FXS);   Healthy Volunteers
Interventions: Drug: [18F]FPEB PET imaging;   Other: Biological samples;   Other: MRI
13 Not yet recruiting Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)
Condition: Hurler Syndrome, Metachromatic Leukodystrophy, Globoid Cell Leukodystrophy, Krabbe, Cerebral Adrenoleukodystrophy
Intervention: Drug: Umbilical cord blood transplantation with HSC835
14 Recruiting A Safety Study of NNZ-2566 in Pediatric Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: NNZ-2566;   Drug: Placebo
15 Recruiting Biobanking of Rett Syndrome and Related Disorders
Conditions: Rett Syndrome;   MECP2 Duplication;   CDKL5;   FOXG1 Disorders
Intervention:
16 Enrolling by invitation Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
Conditions: Cerebral Adrenoleukodystrophy (CALD);   Adrenoleukodystrophy (ALD);   X-Linked Adrenoleukodystrophy (X-ALD)
Intervention: Other: Safety and efficacy assessments
17 Recruiting Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin
Condition: Rett Syndrome
Intervention: Drug: triheptanoin
18 Recruiting Combined Treatment of Minocycline and Lovastatin to Treat Individuals With Fragile X Syndrome
Condition: Fragile X Syndrome
Interventions: Drug: Minocycline, then Minocycline/Lovastatin;   Drug: Lovastatin, then Minocycline/Lovastatin
19 Completed Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Conditions: Rett Syndrome;   Prader-Willi Syndrome;   Angelman Syndrome;   Sleep Problems
Intervention:
20 Not yet recruiting Study of Idursulfase-beta (GC1111) in Hunter Syndrome
Condition: Mucopolysaccharidosis II
Interventions: Biological: idursulfase beta;   Biological: idursulfase

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Indicates status has not been verified in more than two years