Status | Study |
Recruiting |
Study Name: Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Condition: Down Syndrome Edwards Syndrome Patau Syndrome Date: 2016-05-26 Interventions: Other: Blood sampling for Laboratory Developed Test (LDT) analysis Each enrolled subject, either in the |
Recruiting |
Study Name: Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Condition: Phelan-McDermid Syndrome Date: 2016-03-07 Interventions: Drug: Oxytocin Intranasal oxyt |
Enrolling by invitation |
Study Name: Sulfamethoxazole for the Treatment of Primary PREPL Deficiency Condition: Hypotonia Cystinuria Syndrome Isolated PREPL Deficiency Date: 2015-10-07 Interventions: Drug: Sulfamethoxazole 60 mg sulfamethoxazole per kg bodyweight (maximal of 3g) divided in 2 doses per d |
Active, not recruiting |
Study Name: Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions Condition: Male Sterility Due to Y-chromosome Deletions Date: 2015-08-11 |
Recruiting |
Study Name: Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome Condition: Microdeletion 3q29 Syndrome Microduplication 3q29 Syndrome Date: 2015-05-15 |
Recruiting |
Study Name: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Condition: Phelan-McDermid Syndrome Autism Spectrum Disorder Intellec Date: 2015-05-11 |
Recruiting |
Study Name: PREPL in Health and Disease Condition: Hypotonia-Cystinuria Syndrome Muscle Hypotonia Healthy Vol Date: 2014-10-01 Interventions: Procedure: Blood draw Blood dr |
Active, not recruiting |
Study Name: RA-2 13-cis Retinoic Acid (Isotretinoin) Condition: Male Infertility Klinefelter's Syndrome Y-chromosome Micro Date: 2014-02-10 Interventions: Drug: 13-cis retinoic acid Acc |
Completed |
Study Name: Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment Condition: Phelan-McDermid Syndrome Date: 2013-11-25 |
Recruiting |
Study Name: The Clinical Study of Sex Chromosome Variants Condition: Klinefelter Syndrome Male Factor Infertility Female Factor Date: 2012-08-07 |