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Chromosome Deletion - 10 Studies Found

Status Study
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
Terminated Study Name: A Dose Range Finding Study of Lenalidomide in Non-5q Chromosome Deletion in Low and Intermediate Risk Myelodysplastic Syndrome (MDS) Patients
Condition:
  • Myelodysplastic Syndrome
  • MDS
  • Low to Intermediate-1 MDS Date: 2008-06-13
    Interventions: Drug: Lenalidomide Dose Level Lenalidomide Schedule
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: Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Condition: Phelan-McDermid Syndrome
Date: 2016-03-07
Interventions:
  • Drug: Oxytocin Intranasal oxyt
Completed Study Name: Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Condition:
  • 22q13 Deletion Syndrome
  • Phelan-McDermid Syndrome

Date: 2012-02-01
Interventions:
  • Drug: Insulin-Like Growth Factor-1 (IGF-1)

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: 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
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: Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome
Condition:
  • Microdeletion 3q29 Syndrome
  • Microduplication 3q29 Syndrome

Date: 2015-05-15
Recruiting Study Name: The Clinical Study of Sex Chromosome Variants
Condition:
  • Klinefelter Syndrome
  • Male Factor Infertility
  • Female Factor
    Date: 2012-08-07