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• Aneuploidy Rates of in Vitro Matured Oocytes

  NCT03860064

  Condition:   Aneuploidy
  Intervention:   Other: Non intervention
  Sponsor:   IVI Barcelona
  Recruiting
• PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

  NCT03831256

  Conditions:   Prenatal Disorder;   Aneuploidy
  Interventions:   Diagnostic Test: Traditional integrated prenatal screening;   Diagnostic Test: Second-tier Non-invasive prenatal screening (NIPS);   Diagnostic Test: First-tier Non-invasive prenatal screening (NIPS);   Diagnostic Test: Invasive prenatal testing for fetal aneuploidy
  Sponsors:   CHU de Quebec-Universite Laval;   Genome Quebec;   Genome British Columbia;   Genome Alberta;   Ontario Research Fund;   Laval University;   St. Justine's Hospital;   Ottawa Hospital Research Institute;   McGill University;   University of British Columbia;   University of Alberta;   Genome Canada;   Canadian Institutes of Health Research (CIHR)
  Not yet recruiting
• Ultrasonographic Fetal Soft Markers and Aneuploidy

  NCT03861520

  Condition:   Soft Markers
  Interventions:   Device: Midtrimester anomaly scan;   Genetic: Fetal Karyotyping
  Sponsor:   Cairo University
  Recruiting
• Preimplantation Genetic Testing for Aneuploidies in Patients With Recurrent Implantation Failure

  NCT03900780

  Condition:   Recurrent Implantation Failure
  Interventions:   Procedure: PGT-A;   Procedure: Control
  Sponsor:   Universitaire Ziekenhuizen Leuven
  Not yet recruiting
• Embryo Aneuploidies and Morphokinetics in Ovarian Stimulated and Non Stimulated IVF Cycles

  NCT03128580

  Condition:   Euploid Embryos
  Intervention:  
  Sponsor:   Instituto Valenciano de Infertilidad, IVI VALENCIA
  Recruiting
• Screening of Low Responders for Aneuploidy to Improve Reproductive Efficiency

  NCT01977144

  Condition:   Infertility
  Intervention:   Other: Comprehensive Chromosomal Screening
  Sponsor:   Reproductive Medicine Associates of New Jersey
  Recruiting
• Prenatal Computer-Aided Genetics Education Module

  NCT03449225

  Conditions:   Autosomal Recessive Disorder;   Aneuploidy
  Intervention:   Other: Computer-Aided Genetic Education Module
  Sponsor:   Wayne State University
  Recruiting
• Use of Videos to Improve Patient Knowledge on Prenatal Genetics

  NCT03816423

  Conditions:   Aneuploidy;   Birth Defect
  Intervention:   Other: video
  Sponsors:   University of South Florida;   Tampa General Hospital
  Not yet recruiting
• Multi-center Study to Validate niPGT-A

  NCT03520933

  Conditions:   Aneuploidy;   Chromosome Abnormality;   Infertility
  Interventions:   Diagnostic Test: PGT-A;   Diagnostic Test: niPGT-A
  Sponsor:   Igenomix
  Recruiting
• The Effect of Acupuncture on Pregnancy Rates in Women Undergoing in Vitro Fertilization With Preimplantation Genetic Screening

  NCT03981120

  Conditions:   Infertility;   Aneuploidy
  Intervention:   Procedure: Laser Acupuncture
  Sponsor:   University of British Columbia
  Not yet recruiting
• Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies

  NCT03673592

  Conditions:   Aneuploidy;   Chromosome Abnormality
  Intervention:   Diagnostic Test: PGT-A
  Sponsor:   Igenomix
  Recruiting
• Study to Validate niPGT-A Clinical Benefit (niPGT-A_RCT)

  NCT04000152

  Conditions:   Aneuploidy;   Chromosome Abnormality;   Infertility
  Interventions:   Diagnostic Test: niPGT-A;   Other: Morphology criteria
  Sponsor:   Igenomix
  Not yet recruiting
• Application of UCAD for Diagnosing Urothelial Carcinoma.

  NCT03998371

  Conditions:   Urothelial Carcinoma;   Diagnoses Disease;   Chromosomal Abnormality;   Urine Marking
  Intervention:   Diagnostic Test: Low-coverage whole-genome sequencing of urine exfoliated cells
  Sponsor:   Changhai Hospital
  Recruiting
• Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers

  NCT00001246

  Conditions:   XXY (Klinefelter);   Sex Chromosome Variation;   Sex Chromosome Aneuploidy;   XXXY;   XXXXXY;   XYY (Jacob);   XXYY;   X (XO, Turner);   XXX (Trisomy X, Triple X);   XXXX (Tetrasomy X);   XXXXX (Pentasomy X)
  Intervention:  
  Sponsor:   National Institute of Mental Health (NIMH)
  Recruiting
• The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

  NCT03396562

  Conditions:   Klinefelter Syndrome;   Trisomy X;   XYY Syndrome;   XXXY and XXXXY Syndrome;   Xxyy Syndrome;   Xyyy Syndrome;   Xxxx Syndrome;   Xxxxx Syndrome;   Xxxyy Syndrome;   Xxyyy Syndrome;   Xyyyy Syndrome;   Male With Sex Chromosome Mosaicism
  Intervention:   Other: Assessments of Development and Growth
  Sponsor:   University of Colorado, Denver
  Recruiting
• The Clinical Study of Sex Chromosome Variants

  NCT01661010

  Conditions:   Male Factor Infertility;   Female Factor Infertility
  Intervention:  
  Sponsor:   National Human Genome Research Institute (NHGRI)
  Recruiting
• First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome

  NCT03375359

  Condition:   Pregnancy
  Intervention:   Diagnostic Test: cfDNA screening
  Sponsor:   University Hospital Tuebingen
  Recruiting
• Growth Hormone Treatment in Children With Phelan McDermid Syndrome

  NCT04003207

  Condition:   Phelan McDermid Syndrome
  Intervention:   Drug: Recombinant human Growth hormone
  Sponsor:   Swathi Sethuram
  Recruiting
• Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

  NCT02109770

  Conditions:   Microdeletion Syndromes;   Trisomy 21;   Trisomy 18;   Trisomy 13;   Sex Chromosome Abnormalities
  Intervention:  
  Sponsor:   Natera, Inc.
  Recruiting
• Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

  NCT01852708

  Conditions:   Trisomy 21;   Trisomy 18;   Trisomy 13;   Sex Chromosome Abnormalities;   Microdeletion Syndromes
  Intervention:  
  Sponsor:   Natera, Inc.
  Recruiting
• Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

  NCT02710084

  Condition:   Phelan-McDermid Syndrome
  Interventions:   Drug: Oxytocin;   Drug: Saline
  Sponsor:   Alexander Kolevzon
  Recruiting
• Cognitive Orientation to Daily Occupational Performance and Conductive Education Approaches on Down Syndrome

  NCT03687619

  Condition:   Down Syndrome, Trisomy 21
  Interventions:   Other: CO-OP;   Other: Conductive Education
  Sponsor:   Hülya Özbeşer
  Recruiting
• JASPER Intervention in Down Syndrome

  NCT03653143

  Condition:   Down Syndrome, Trisomy 21
  Intervention:   Behavioral: JASPER
  Sponsor:   Boston Children’s Hospital
  Recruiting
• Learning by Repetitive Viewing of Peer Modeling Patient Education Videos by Adults With Down Syndrome

  NCT03551418

  Conditions:   Down Syndrome;   Trisomy 21
  Intervention:   Behavioral: Watching a video
  Sponsor:   Advocate Health Care
  Recruiting
• AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy

  NCT03493607

  Conditions:   Phelan-McDermid Syndrome;   Epilepsy
  Intervention:   Drug: AMO-01
  Sponsor:   Alexander Kolevzon
  Recruiting
• Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

  NCT03426059

  Conditions:   Phelan-McDermid Syndrome;   Autism Spectrum Disorder;   Intellectual Disability
  Intervention:   Other: No Intervention
  Sponsors:   Boston Children’s Hospital;   Phelan-McDermid Syndrome Foundation
  Recruiting
• Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

  NCT01525901

  Conditions:   22q13 Deletion Syndrome;   Phelan-McDermid Syndrome
  Interventions:   Drug: Insulin-Like Growth Factor-1 (IGF-1);   Drug: Normal saline
  Sponsors:   Icahn School of Medicine at Mount Sinai;   National Institute of Mental Health (NIMH)
  Recruiting
• Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia

  NCT03190915

  Conditions:   Activating RAS Mutation;   Blasts Under 20 Percent of Bone Marrow Nucleated Cells;   Blasts Under 20 Percent of Peripheral Blood White Cells;   Juvenile Myelomonocytic Leukemia;   Monosomy 7;   Neurofibromatosis Type 1;   NF1 Gene Mutation;   PTPN11 Gene Mutation;   Splenomegaly
  Interventions:   Other: Laboratory Biomarker Analysis;   Other: Pharmacological Study;   Drug: Trametinib
  Sponsor:   National Cancer Institute (NCI)
  Recruiting
• The Crnic Institute Human Trisome Project Biobank

  NCT02864108

  Conditions:   Down Syndrome;   Trisomy 21
  Intervention:  
  Sponsors:   University of Colorado, Denver;   Linda Crnic Institute for Down Syndrome
  Recruiting
• Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome

  NCT02521493

  Conditions:   Acute Myeloid Leukemia;   Blasts 5 Percent or More of Bone Marrow Nucleated Cells;   Cytopenia;   Down Syndrome;   Myelodysplastic Syndrome;   Myeloid Leukemia Associated With Down Syndrome;   Myeloproliferative Neoplasm;   Trisomy 21;   Trisomy 21 Mosaicism
  Interventions:   Drug: Asparaginase;   Drug: Asparaginase Erwinia chrysanthemi;   Drug: Cytarabine;   Drug: Daunorubicin Hydrochloride;   Drug: Etoposide;   Other: Laboratory Biomarker Analysis;   Drug: Mitoxantrone Hydrochloride;   Drug: Thioguanine
  Sponsors:   Children's Oncology Group;   National Cancer Institute (NCI)
  Recruiting
• Characterization of 3q29 Deletion Syndrome and 3q29 Duplication Syndrome

  NCT02447861

  Conditions:   Microdeletion 3q29 Syndrome;   Microduplication 3q29 Syndrome
  Intervention:  
  Sponsor:   Emory University
  Recruiting
• Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

  NCT01793168

  Conditions:   Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome;   Prenatal Benign Hypophosphatasia;   Perinatal Lethal Hypophosphatasia;   Odontohypophosphatasia;   Adult Hypophosphatasia;   Childhood-onset Hypophosphatasia;   Infantile Hypophosphatasia;   Hypophosphatasia;   Kabuki Syndrome;   Bohring-Opitz Syndrome;   Narcolepsy Without Cataplexy;   Narcolepsy-cataplexy;   Hypersomnolence Disorder;   Idiopathic Hypersomnia Without Long Sleep Time;   Idiopathic Hypersomnia With Long Sleep Time;   Idiopathic Hypersomnia;   Kleine-Levin Syndrome;   Kawasaki Disease;   Leiomyosarcoma;   Leiomyosarcoma of the Corpus Uteri;   Leiomyosarcoma of the Cervix Uteri;   Leiomyosarcoma of Small Intestine;   Acquired Myasthenia Gravis;   Addison Disease;   Hyperacusis (Hyperacousis);   Juvenile Myasthenia Gravis;   Transient Neonatal Myasthenia Gravis;   Williams Syndrome;   Lyme Disease;   Myasthenia Gravis;   Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);   Isolated Klippel-Feil Syndrome;   Frasier Syndrome;   Denys-Drash Syndrome;   Beckwith-Wiedemann Syndrome;   Emanuel Syndrome;   Isolated Aniridia;   Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11;   Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15;   Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion;   Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication;   Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion;   Axenfeld-Rieger Syndrome;   Aniridia-intellectual Disability Syndrome;   Aniridia - Renal Agenesis - Psychomotor Retardation;   Aniridia - Ptosis - Intellectual Disability - Familial Obesity;   Aniridia - Cerebellar Ataxia - Intellectual Disability;   Aniridia - Absent Patella;   Aniridia;   Peters Anomaly - Cataract;   Peters Anomaly;   Potocki-Shaffer Syndrome;   Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;   Silver-Russell Syndrome Due to Imprinting Defect of 11p15;   Silver-Russell Syndrome Due to 11p15 Microduplication;   Syndromic Aniridia;   WAGR Syndrome;   Wolf-Hirschhorn Syndrome;   4p16.3 Microduplication Syndrome;   4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;   Autosomal Recessive Stickler Syndrome;   Stickler Syndrome Type 2;   Stickler Syndrome Type 1;   Stickler Syndrome;   Mucolipidosis Type 4;   X-linked Spinocerebellar Ataxia Type 4;   X-linked Spinocerebellar Ataxia Type 3;   X-linked Intellectual Disability - Ataxia - Apraxia;   X-linked Progressive Cerebellar Ataxia;   X-linked Non Progressive Cerebellar Ataxia;   X-linked Cerebellar Ataxia;   Vitamin B12 Deficiency Ataxia;   Toxic Exposure Ataxia;   Unclassified Autosomal Dominant Spinocerebellar Ataxia;   Thyroid Antibody Ataxia;   Sporadic Adult-onset Ataxia of Unknown Etiology;   Spinocerebellar Ataxia With Oculomotor Anomaly;   Spinocerebellar Ataxia With Epilepsy;   Spinocerebellar Ataxia With Axonal Neuropathy Type 2;   Spinocerebellar Ataxia Type 8;   Spinocerebellar Ataxia Type 7;   Spinocerebellar Ataxia Type 6;   Spinocerebellar Ataxia Type 5;   Spinocerebellar Ataxia Type 4;   Spinocerebellar Ataxia Type 37;   Spinocerebellar Ataxia Type 36;   Spinocerebellar Ataxia Type 35;   Spinocerebellar Ataxia Type 34;   Spinocerebellar Ataxia Type 32;   Spinocerebellar Ataxia Type 31;   Spinocerebellar Ataxia Type 30;   Spinocerebellar Ataxia Type 3;   Spinocerebellar Ataxia Type 29;   Spinocerebellar Ataxia Type 28;   Spinocerebellar Ataxia Type 27;   Spinocerebellar Ataxia Type 26;   Spinocerebellar Ataxia Type 25;   Spinocerebellar Ataxia Type 23;   Spinocerebellar Ataxia Type 22;   Spinocerebellar Ataxia Type 21;   Spinocerebellar Ataxia Type 20;   Spinocerebellar Ataxia Type 2;   Spinocerebellar Ataxia Type 19/22;   Spinocerebellar Ataxia Type 18;   Spinocerebellar Ataxia Type 17;   Spinocerebellar Ataxia Type 16;   Spinocerebellar Ataxia Type 15/16;   Spinocerebellar Ataxia Type 14;   Spinocerebellar Ataxia Type 13;   Spinocerebellar Ataxia Type 12;   Spinocerebellar Ataxia Type 11;   Spinocerebellar Ataxia Type 10;   Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;   Spinocerebellar Ataxia Type 1;   Spinocerebellar Ataxia - Unknown;   Spinocerebellar Ataxia - Dysmorphism;   Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Spectrin-associated Autosomal Recessive Cerebellar Ataxia;   Spasticity-ataxia-gait Anomalies Syndrome;   Spastic Ataxia With Congenital Miosis;   Spastic Ataxia - Corneal Dystrophy;   Spastic Ataxia;   Rare Hereditary Ataxia;   Rare Ataxia;   Recessive Mitochondrial Ataxia Syndrome;   Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Posterior Column Ataxia - Retinitis Pigmentosa;   Post-Stroke Ataxia;   Post-Head Injury Ataxia;   Post Vaccination Ataxia;   Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;   Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;   Non-progressive Cerebellar Ataxia With Intellectual Disability;   Non-hereditary Degenerative Ataxia;   Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;   Olivopontocerebellar Atrophy - Deafness;   NARP Syndrome;   Myoclonus - Cerebellar Ataxia - Deafness;   Multiple System Atrophy, Parkinsonian Type;   Multiple System Atrophy, Cerebellar Type;   Multiple System Atrophy;   Maternally-inherited Leigh Syndrome;   Machado-Joseph Disease Type 3;   Machado-Joseph Disease Type 2;   Machado-Joseph Disease Type 1;   Lethal Ataxia With Deafness and Optic Atrophy;   Leigh Syndrome;   Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema;   Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination;   Leigh Syndrome With Nephrotic Syndrome;   Leigh Syndrome With Leukodystrophy;   Leigh Syndrome With Cardiomyopathy;   Late-onset Ataxia With Dementia;   Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome;   Infection or Post Infection Ataxia;   Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia;   Infantile Onset Spinocerebellar Ataxia;   GAD Ataxia;   Hereditary Episodic Ataxia;   Gliadin/Gluten Ataxia;   Friedreich Ataxia;   Fragile X-associated Tremor/Ataxia Syndrome;   Familial Paroxysmal Ataxia;   Exposure to Medications Ataxia;   Episodic Ataxia With Slurred Speech;   Episodic Ataxia Unknown Type;   Episodic Ataxia Type 7;   Episodic Ataxia Type 6;   Episodic Ataxia Type 5;   Episodic Ataxia Type 4;   Episodic Ataxia Type 3;   Episodic Ataxia Type 1;   Epilepsy and/or Ataxia With Myoclonus as Major Feature;   Early-onset Spastic Ataxia-neuropathy Syndrome;   Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;   Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;   Early-onset Ataxia With Dementia;   Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;   Dilated Cardiomyopathy With Ataxia;   Cataract - Ataxia - Deafness;   Cerebellar Ataxia, Cayman Type;   Cerebellar Ataxia With Peripheral Neuropathy;   Cerebellar Ataxia - Hypogonadism;   Cerebellar Ataxia - Ectodermal Dysplasia;   Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;   Brain Tumor Ataxia;   Brachydactyly - Nystagmus - Cerebellar Ataxia;   Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;   Autosomal Recessive Syndromic Cerebellar Ataxia;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;   Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;   Autosomal Recessive Spastic Ataxia;   Autosomal Recessive Metabolic Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;   Autosomal Recessive Ataxia, Beauce Type;   Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;   Autosomal Recessive Ataxia Due to PEX10 Deficiency;   Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;   Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia;   Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;   Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;   Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;   Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;   Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;   Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;   Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;   Autosomal Recessive Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;   Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;   Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;   Autosomal Dominant Spastic Ataxia Type 1;   Autosomal Dominant Spastic Ataxia;   Autosomal Dominant Optic Atrophy;   Ataxia-telangiectasia Variant;   Ataxia-telangiectasia;   Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;   Autosomal Dominant Cerebellar Ataxia Type 4;   Autosomal Dominant Cerebellar Ataxia Type 3;   Autosomal Dominant Cerebellar Ataxia Type 2;   Autosomal Dominant Cerebellar Ataxia Type 1;   Autosomal Dominant Cerebellar Ataxia;   Ataxia-telangiectasia-like Disorder;   Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome;   Ataxia-deafness-intellectual Disability Syndrome;   Ataxia With Vitamin E Deficiency;   Ataxia With Dementia;   Ataxia Neuropathy Spectrum;   Ataxia - Tapetoretinal Degeneration;   Ataxia - Photosensitivity - Short Stature;   Ataxia - Pancytopenia;   Ataxia - Oculomotor Apraxia Type 1;   Ataxia - Hypogonadism - Choroidal Dystrophy;   Ataxia - Other;   Ataxia - Genetic Diagnosis - Unknown;   Acquired Ataxia;   Adult-onset Autosomal Recessive Cerebellar Ataxia;   Alcohol Related Ataxia;   Multiple Endocrine Neoplasia;   Multiple Endocrine Neoplasia Type II;   Multiple Endocrine Neoplasia Type 1;   Multiple Endocrine Neoplasia Type 2;   Multiple Endocrine Neoplasia, Type IV;   Multiple Endocrine Neoplasia, Type 3;   Multiple Endocrine Neoplasia (MEN) Syndrome;   Multiple Endocrine Neoplasia Type 2B;   Multiple Endocrine Neoplasia Type 2A;   Atypical Hemolytic Uremic Syndrome;   Atypical HUS;   Wiedemann-Steiner Syndrome;   Breast Implant-Associated Anaplastic Large Cell Lymphoma;   Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA);   Hemophagocytic Lymphohistiocytosis;   Behcet's Disease;   Alagille Syndrome;   Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD);   Lowe Syndrome;   Pitt Hopkins Syndrome;   1p36 Deletion Syndrome;   Jansen Type Metaphyseal Chondrodysplasia;   Cockayne Syndrome;   Chronic Recurrent Multifocal Osteomyelitis;   CRMO;   Malan Syndrome;   Hereditary Sensory and Autonomic Neuropathy Type Ie
  Intervention:  
  Sponsors:   Sanford Health;   National Ataxia Foundation;   International WAGR Syndrome Association;   4p- Support Group;   ML4 Foundation;   Cornelia de Lange Syndrome Foundation;   Stickler Involved People;   Kawasaki Disease Foundation;   Klippel-Feil Syndrome Alliance;   Klippel-Feil Syndrome Freedom;   Hyperacusis Research Limited;   Hypersomnia Foundation;   Kabuki Syndrome Network;   Kleine-Levin Syndrome Foundation;   Leiomyosarcoma Direct Research Foundation;   Marinesco-Sjogren Syndrome Support Group;   Mucolipidosis Type IV (ML4) Foundation;   People with Narcolepsy 4 People with Narcolepsy (PWN4PWN);   Soft Bones Incorporated;   American Multiple Endocrine Neoplasia Support;   Atypical Hemolytic Uremic Syndrome Foundation;   All Things Kabuki;   Wiedemann-Steiner Syndrome Foundation;   Breast Implant Victim Advocates;   PROS Foundation;   American Behcet's Disease Association
  Recruiting
• Trisomy 21 in Adulthood

  NCT01663675

  Condition:   Down Syndrome
  Intervention:   Genetic: karyotype
  Sponsor:   University Hospital, Strasbourg, France
  Recruiting
• TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

  NCT03325647

  Condition:   Klinefelter Syndrome
  Interventions:   Drug: Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;   Drug: Placebo injectable saline
  Sponsors:   University of Colorado, Denver;   Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  Recruiting
• Clinical Study PGT-A vs PGT-A+ERA

  NCT03530254

  Condition:   Infertility of Uterine Origin
  Interventions:   Diagnostic Test: PGT-A;   Diagnostic Test: ERA Test
  Sponsor:   Igenomix
  Recruiting