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Conditions: Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 1 Year to 99 Years
Enrollment: 96 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY), and Other Chromosome, Abnormalities.
Interventions: Not listed
Lead sponsor: Lenetix Medical Screening Laboratory; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2009
U.S. locations: 7
States / cities: Rockville, Maryland • Moristown, New Jersey • Mineola, New York + 3 more

Conditions: Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions: Hematopoietic stem cell transplant (HSCT); Biological
Lead sponsor: Paul Szabolcs; Other
Eligibility: 5 Years to 40 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: Not listed
Enrollment: 216 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2019
U.S. locations: 2
States / cities: San Carlos, California • Philadelphia, Pennsylvania

Conditions: Trisomy 21, Trisomy 18, Trisomy 13, Sex Chromosome Abnormalities, Microdeletion Syndromes
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 1,059 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2012 – 2020
U.S. locations: 7
States / cities: San Carlos, California • San Gabriel, California • Washington D.C., District of Columbia + 4 more

Conditions: Cancer
Interventions: graft versus host disease prophylaxis/therapy, allogeneic bone marrow transplantation; Biological · Procedure
Lead sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins; Other
Eligibility: Up to 65 Years
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1997 – 2004
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation, Bicuspid Aortic Valve Without Known Family History, Bicuspid Aortic Valve With Family History, Bicuspid Aortic Valve With Coarctation, Familial Thoracic Aortic Aneurysm and Dissections, Shprintzen-Goldberg Syndrome, Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo, Other Congenital Heart Disease
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: Not listed
Enrollment: 3,706 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2016
U.S. locations: 7
States / cities: Honolulu, Hawaii • Baltimore, Maryland • New York, New York + 3 more

Conditions: Accelerated Phase of Disease, Adult Acute Myeloid Leukemia With Inv(16)(p13.1q22); CBFB-MYH11, Adult Acute Myeloid Leukemia With t(16;16)(p13.1;q22); CBFB-MYH11, Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1, Adult Acute Myeloid Leukemia With t(9;11)(p22;q23); MLLT3-MLL, Adult Acute Promyelocytic Leukemia With t(15;17)(q22;q12); PML-RARA, Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative, Blastic Phase, Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Chronic Myelomonocytic Leukemia, de Novo Myelodysplastic Syndrome, Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable, Philadelphia Chromosome Negative, BCR-ABL1 Positive Chronic Myelogenous Leukemia, Previously Treated Myelodysplastic Syndrome, Primary Myelofibrosis, Recurrent Adult Acute Lymphoblastic Leukemia, Recurrent Adult Acute Myeloid Leukemia, Recurrent Disease, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndrome
Interventions: Belinostat, Azacitidine, Laboratory Biomarker Analysis; Drug · Other
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: 18 Years and older
Enrollment: 56 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2013
U.S. locations: 2
States / cities: Chicago, Illinois • Madison, Wisconsin

Conditions: Down Syndrome, Edwards Syndrome
Interventions: Maternal Blood Draw; Other
Lead sponsor: Progenity, Inc.; Industry
Eligibility: 18 Years to 54 Years · Female only
Enrollment: 340 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 10
States / cities: Campbell, California • Long Beach, California • Denver, Colorado + 6 more

Conditions: Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Childhood Acute Myeloid Leukemia in Remission, Childhood Myelodysplastic Syndromes, de Novo Myelodysplastic Syndromes, Essential Thrombocythemia, Myelodysplastic Syndrome With Isolated Del(5q), Polycythemia Vera, Previously Treated Myelodysplastic Syndromes, Primary Myelofibrosis, Recurrent Adult Acute Myeloid Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndromes, Secondary Myelofibrosis, Untreated Adult Acute Myeloid Leukemia, Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies
Interventions: cyclophosphamide, busulfan, tacrolimus, methotrexate, cytogenetic analysis, flow cytometry, pharmacological study, pharmacogenomic studies, peripheral blood stem cell transplantation, allogeneic hematopoietic stem cell transplantation; Drug · Genetic · Other + 1 more
Lead sponsor: Fred Hutchinson Cancer Center; Other
Eligibility: Up to 65 Years
Enrollment: 52 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2013
U.S. locations: 1
States / cities: Seattle, Washington

Conditions: Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions: Blood sampling for Laboratory Developed Test (LDT) analysis; Other
Lead sponsor: Progenity, Inc.; Industry
Eligibility: 18 Years to 54 Years · Female only
Enrollment: 760 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2018
U.S. locations: 8
States / cities: Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more

Conditions: Chronic Myelogenous Leukemia, Acute Lymphoblastic Leukemia (Philadelphia Chromosome Positive), Hypereosinophilic Syndrome, Systemic Mastocytosis
Interventions: Nilotinib; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older
Enrollment: 507 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2012
U.S. locations: 24
States / cities: Duarte, California • Stanford, California • Aurora, Colorado + 20 more

Conditions: Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89), Mental and Behavioural Disorders, Diseases of the Nervous System, Diseases of the Eye and Adnexa, Diseases of the Ear and Mastoid Process, Diseases of the Circulatory System, Diseases of the Respiratory System, Diseases of the Digestive System, Diseases of the Skin and Subcutaneous Tissue, Diseases of the Musculoskeletal System and Connective Tissue, Diseases of the Genitourinary System, Pregnancy, Childbirth and the Puerperium, Certain Conditions Originating in the Perinatal Period, Congenital Malformations, Deformations and Chromosomal Abnormalities (Q00-Q99), Symptoms, Signs and Abnormal Clinical and Laboratory Findings, Not Elsewhere Classified, Injury, Poisoning and Certain Other Consequences of External Causes, External Causes of Morbidity and Mortality, Factors Influencing Health Status and Contact With Health Services
Interventions: Not listed
Lead sponsor: Anova Enterprises, Inc; Industry
Eligibility: 18 Years and older
Enrollment: 100,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2021 – 2026
U.S. locations: 1
States / cities: Arlington Heights, Illinois

Conditions: Myelodysplastic Syndrome
Interventions: ON 01910.Na; Drug
Lead sponsor: Traws Pharma, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 14 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2013
U.S. locations: 1
States / cities: Stanford, California

Conditions: DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
Interventions: Not listed
Lead sponsor: National Institute of Mental Health (NIMH); NIH
Eligibility: 18 Years to 50 Years
Healthy volunteers: Accepts healthy volunteers
Timeline: 2005 – 2010
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities, Mental Retardation
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 2 Years to 99 Years
Enrollment: 197 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Velo-cardio-facial Syndrome, Psychosis
Interventions: Metyrosine, Placebo; Drug
Lead sponsor: Bausch Health Americas, Inc.; Industry
Eligibility: 16 Years to 65 Years
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2011
U.S. locations: 1
States / cities: Syracuse, New York

Conditions: Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
Interventions: anti-thymocyte globulin, cyclosporine, fludarabine phosphate, melphalan, methylprednisolone, mycophenolate mofetil, allogeneic bone marrow transplantation, peripheral blood stem cell transplantation, syngeneic bone marrow transplantation; Biological · Drug · Procedure
Lead sponsor: Herbert Irving Comprehensive Cancer Center; Other
Eligibility: 1 Year to 80 Years
Enrollment: 52 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1998
U.S. locations: 1
States / cities: New York, New York

Conditions: Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
Interventions: Not listed
Lead sponsor: University of Pennsylvania; Other
Eligibility: Not listed
Enrollment: 2,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2045
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Alzheimer's Disease, Dementia, Down's Syndrome
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 18 Years and older
Enrollment: 597 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1981 – 2012
U.S. locations: 1
States / cities: Bethesda, Maryland

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, 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, 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-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, Leigh Syndrome, Late-onset Ataxia With Dementia, Infection or Post Infection 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 With Vitamin E Deficiency, Ataxia With Dementia, Ataxia - Oculomotor Apraxia Type 1, 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, VCP Disease, Hypnic Jerking, Sleep Myoclonus, Mollaret Meningitis, Recurrent Viral Meningitis, CRB1, Leber Congenital Amaurosis, Retinitis Pigmentosa, Rare Retinal Disorder, KCNMA1-Channelopathy, Primary Biliary Cirrhosis, ZMYND11, Transient Global Amnesia, Glycogen Storage Disease, Alstrom Syndrome, White Sutton Syndrome, DNM1, EIEE31, Myhre Syndrome, Recurrent Respiratory Papillomatosis, Laryngeal Papillomatosis, Tracheal Papillomatosis, Refsum Disease, Nicolaides Baraitser Syndrome, Leukodystrophy, Tango2, Cauda Equina Syndrome, Rare Gastrointestinal Disorders, Achalasia-Addisonian Syndrome, Achalasia Cardia, Achalasia Icrocephaly Syndrome, Anal Fistula, Congenital Sucrase-Isomaltase Deficiency, Eosinophilic Gastroenteritis, Idiopathic Gastroparesis, Hirschsprung Disease, Rare Inflammatory Bowel Disease, Intestinal Pseudo-Obstruction, Scleroderma, Short Bowel Syndrome, Sacral Agenesis, Sacral Agenesis Syndrome, Caudal Regression, Scheuermann Disease, SMC1A Truncated Mutations (Causing Loss of Gene Function), Cystinosis, Juvenile Nephropathic Cystinosis, Nephropathic Cystinosis, Kennedy Disease, Spinal Bulbar Muscular Atrophy, Warburg Micro Syndrome, Mucolipidoses, Mitochondrial Diseases, Mitochondrial Aminoacyl-tRNA Synthetases, Mt-aaRS Disorders, Hypertrophic Olivary Degeneration, Non-Ketotic Hyperglycinemia, Fish Odor Syndrome, Halitosis, Isolated Congenital Asplenia, Lambert Eaton (LEMS), Biliary Atresia, STAG1 Gene Mutation, Coffin Lowry Syndrome, Borjeson-Forssman-Lehman Syndrome, Blau Syndrome, Arginase 1 Deficiency, HSPB8 Myopathy, Beta-Mannosidosis, TBX4 Syndrome, DHDDS Gene Mutations, MAND-MBD5-Associated Neurodevelopmental Disorder, Constitutional Mismatch Repair Deficiency (CMMRD), SPATA5 Disorder, SPATA5L1 Related Disorder, Acrodysostosis, Multi-systematic Smooth Muscle Dysfunction Syndrome, CRELD1 (Cysteine Rich With EGF Like Domains 1), GNB1 Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Beta Mannosidosis, Kbg Syndrome, Labrune Syndrome, Metachromatic Leukodystrophy (MLD), Moyamoya Disease, OPHN1 Syndrome, Oculopharyngeal Muscular Dystrophy (OPMD), TUBB3 Mutation, WOREE (WWOX-related Epileptic Encephalopathy, SCAR12, Skraban-Deardorff Syndrome, Hereditary Myopathy With Early Respiratory Failure
Interventions: Not listed
Lead sponsor: Sanford Health; Other
Eligibility: Not listed
Enrollment: 20,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2100
U.S. locations: 1
States / cities: Sioux Falls, South Dakota

Conditions: Adult Langerhans Cell Histiocytosis, Childhood Langerhans Cell Histiocytosis, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms
Interventions: Peripheral Blood Stem Cell Transplantation; Procedure
Lead sponsor: Columbia University; Other
Eligibility: 18 Years to 65 Years
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1996 – 2009
U.S. locations: 1
States / cities: New York, New York

Conditions: Fragile X Syndrome
Interventions: ZYN002 - transdermal gel, Placebo; Drug
Lead sponsor: Zynerba Pharmaceuticals, Inc.; Industry
Eligibility: 3 Years to 29 Years
Enrollment: 215 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2025
U.S. locations: 18
States / cities: Phoenix, Arizona • Culver City, California • Irvine, California + 15 more

Conditions: Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations, Other Microdeletions
Interventions: Blood draw, Cheek swab/Saliva Sampling; Procedure
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 1,781 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2011 – 2013
U.S. locations: 1
States / cities: Redwood City, California

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Pediatric Patients With Metabolic or Other Genetic Disorders

Non-Invasive Determination of Fetal Chromosome Abnormalities

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

Prevention of Graft-Versus-Host Disease in Patients Undergoing Bone Marrow Transplantation

National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

Belinostat and Azacitidine in Treating Patients With Advanced Hematologic Cancers or Other Diseases

Non-Invasive Screening for Fetal Aneuploidy

Cyclophosphamide and Busulfan Followed by Donor Stem Cell Transplant in Treating Patients With Myelofibrosis, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

A Study of Oral AMN107 in Adults With Chronic Myelogenous Leukemia (CML) or Other Hematologic Malignancies

AnovaOS Network Powered Patient Registry

Efficacy and Safety of ON 01910.Na in Myelodysplastic Syndrome (MDS) Patients With Trisomy 8 or Classified as Intermediate-1, -2 or High Risk

Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome

Combination Chemotherapy Followed by Donor Bone Marrow Transplant or Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer or Genetic Disorders

Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants

Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Blood Stem Cell Transplant in Treating Patients With Hematologic Cancer

Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome

Non-invasive Prenatal Diagnostic Validation Study