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Chromosome Deletion

Showing 1 - 25 of 680
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22q13 Deletion Syndrome, Phelan-McDermid Syndrome Trial in New York (Insulin-Like Growth Factor-1 (IGF-1), Normal saline)

Completed
Has Results
  • 22q13 Deletion Syndrome
  • Phelan-McDermid Syndrome
  • Insulin-Like Growth Factor-1 (IGF-1)
  • Normal saline
  • New York, New York
    Seaver Austin Center, Icahn School of Medicine at Mount Sinai
Apr 18, 2022

Chromosome 9 P Minus Syndrome

Recruiting
  • Chromosome 9P Deletion Syndrome
  • +4 more
    • Saint Louis, Missouri
      Washington University School of Medicine
    Nov 30, 2021

    Phelan-McDermid Syndrome, Growth Hormone Treatment Trial in Wuxi (recombinant human growth hormone, Saline)

    Completed
    • Phelan-McDermid Syndrome
    • Growth Hormone Treatment
    • recombinant human growth hormone
    • Saline
    • Wuxi, Jiangsu, China
      Affiliated Hospital of JiangNan University, Department of Pediat
    Oct 7, 2022

    Phelan-McDermid Syndrome, Autism Spectrum Disorder (ASD) Trial in New York (Growth Hormone, Saline)

    Recruiting
    • Phelan-McDermid Syndrome
    • Autism Spectrum Disorder (ASD)
    • New York, New York
      Seaver Autism Center for Research & Treatment
    Jul 24, 2022

    Phelan-McDermid Syndrome Trial in Chicago, Boston, Houston (NNZ-2591)

    Recruiting
    • Phelan-McDermid Syndrome
    • Chicago, Illinois
    • +3 more
    Aug 7, 2022

    Phelan-McDermid Syndrome Trial in New York (Oxytocin, Saline)

    Completed
    Has Results
    • Phelan-McDermid Syndrome
    • New York, New York
      Icahn School of Medicine at Mount Sinai
    Dec 2, 2021

    Mitochondrial Dysfunction in Phelan-McDermid Syndrome

    Completed
    • Phelan-McDermid Syndrome
      • Little Rock, Arkansas
        Arkansas Children's Hospital Research Institute
      Aug 4, 2021

      Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple Trial in Chicago (Functional Behavioral

      Enrolling by invitation
      • Telomeric 22Q13 Monosomy Syndrome
      • +7 more
      • Functional Behavioral Training (FBT)
      • Positive Parenting Strategies-Treatment as Usual
      • Chicago, Illinois
        Autism Assessment Research Treatment and Services (AARTS) Center
      Nov 14, 2023

      Phelan-McDermid Syndrome, Epilepsy Trial in New York, Houston (AMO-01)

      Completed
      Has Results
      • Phelan-McDermid Syndrome
      • Epilepsy
      • New York, New York
      • +1 more
      May 28, 2021

      Mapping Genotype, Phenotype, and Natural History of

      Recruiting
      • Phelan-McDermid Syndrome
      • +2 more
        • Stanford, California
        • +4 more
        Jul 29, 2021

        Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

        Completed
        • Phelan-McDermid Syndrome
        • +2 more
        • No Intervention
        • Stanford, California
        • +5 more
        Apr 1, 2021

        Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome Trial in Research Triangle Park (Parent-Infant Inter(X)action

        Enrolling by invitation
        • Fragile X Syndrome
        • +13 more
        • Parent-Infant Inter(X)action Intervention (PIXI)
        • Research Triangle Park, North Carolina
          RTI International
        Feb 23, 2022

        Phelan McDermid Syndrome Trial in New York (Recombinant human Growth hormone)

        Completed
        • Phelan McDermid Syndrome
        • Recombinant human Growth hormone
        • New York, New York
          Seaver Autism Center
        Jun 11, 2020

        22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21 Trial in Worldwide

        Completed
        • 22q11 Deletion Syndrome
        • +10 more
          • San Francisco, California
          • +20 more
          Jan 27, 2021

          Developmental Delay Disorders, Chromosome Deletion, Mental Retardation Trial run by the NHGRI (dTR Melatonin (NIH CC PDS),

          Completed
          • Developmental Delay Disorders
          • +4 more
          • dTR Melatonin (NIH CC PDS)
          • +2 more
          • Bethesda, Maryland
            National Institutes of Health Clinical Center, 9000 Rockville Pi
          Dec 11, 2019

          Autism Spectrum Disorder, Phelan-McDermid Syndrome Trial in Messina (Q10 Ubiquinol, Vitamin E, Multi-Vitamin B complex)

          Enrolling by invitation
          • Autism Spectrum Disorder
          • Phelan-McDermid Syndrome
          • Q10 Ubiquinol
          • +2 more
          • Messina, ME, Italy
            Interdipartimental Program "Autismo 0-90" at "G. Martino" Univer
          Mar 17, 2020

          Partial PTEN Deletion in Breast Cancer

          Not yet recruiting
          • PTEN Gene Deletion
            • (no location specified)
            Oct 27, 2021

            Chromosome 18 Clinical Research Center

            Recruiting
            • Chromosome Aberrations
            • +2 more
            • Determination of growth hormone status
            • +12 more
            • San Antonio, Texas
            • +1 more
            Nov 1, 2022

            Examining Genetic Factors That Affect Severity of 22q11.2

            Recruiting
            • DiGeorge Syndrome
            • 22q11.2 Deletion Syndrome
              • New York, New York
              • +1 more
              Jul 18, 2022

              Healthcare Resources in Chronic Lymphocytic Leukemia Initiating

              Completed
              • Chronic Lymphocytic Leukemia
                • Calgary, Alberta, Canada
                • +12 more
                Jul 7, 2022

                Structural Chromosome Rearrangements and Brain Disorders

                Enrolling by invitation
                • Rare Diseases
                • +2 more
                  • Stockholm, Sweden
                    Anna Lindstrand
                  Oct 2, 2023

                  The Enigma Study

                  Completed
                  • Down Syndrome
                  • +7 more
                  • Blood sampling for Laboratory Developed Test (LDT) analysis
                  • Scottsdale, Arizona
                  • +7 more
                  Aug 19, 2019

                  Natural History Study of Smith-Magenis Syndrome

                  Active, not recruiting
                  • Smith-Magenis Syndrome (SMS)
                    • Bethesda, Maryland
                      National Institutes of Health Clinical Center
                    Jan 4, 2023

                    Glioma (Diagnosis), Liquid Biopsy, Deep Learning Trial in Wuhan, Nanchang (Prediction of glioma grading and molecular subtype)

                    Recruiting
                    • Glioma (Diagnosis)
                    • +2 more
                    • Prediction of glioma grading and molecular subtype
                    • Wuhan, Hubei, China
                    • +1 more
                    Sep 8, 2022

                    The Clinical Study of Sex Chromosome Variants

                    Completed
                    • Male Factor Infertility
                    • Female Factor Infertility
                      • Bethesda, Maryland
                        National Institutes of Health Clinical Center, 9000 Rockville Pi
                      Apr 7, 2022