- Conditions
- Autosomal Recessive Disorder, Aneuploidy
- Interventions
- Computer-Aided Genetic Education Module
- Other
- Lead sponsor
- Wayne State University
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 100 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2019
- U.S. locations
- 1
- States / cities
- Detroit, Michigan
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Showing 1–24
of 104
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- Conditions
- High Risk Pregnancy, Congenital Heart Disease, Fetal Hydrops, Twin Monochorionic Monoamniotic Placenta, Gastroschisis, Fetal Demise, Stillbirth, Fetal Arrhythmia, Long QT Syndrome, Intrauterine Fetal Death, Sudden Infant Death, Pregnancy Loss, Twin Twin Transfusion Syndrome, Birth Defect, Fetal Cardiac Anomaly, Fetal Cardiac Disorder, Fetal Death, Brugada Syndrome, Fetal Tachycardia
- Interventions
- Fetal Magnetocardiogram and Neonatal Electrocardiogram, Substudy only: Maternal/Infant Pharmacogenomic assessment postnatally
- Diagnostic Test · Genetic
- Lead sponsor
- Medical College of Wisconsin
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2028
- U.S. locations
- 2
- States / cities
- Madison, Wisconsin • Milwaukee, Wisconsin
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios, Potter Syndrome, Lung Hypoplasia, Multicystic Renal Dysplasia, Bilateral, Lower Urinary Tract Obstructive Syndrome, Bilateral Renal Agenesis
- Interventions
- Amnioinfusion
- Other
- Lead sponsor
- Fetal Care Center, PLLC
- Industry
- Eligibility
- Female only
- Enrollment
- 35 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Holoprosencephaly
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- Not listed
- Enrollment
- 30 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2000 – 2001
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
- Interventions
- Not listed
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 1,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2009
- U.S. locations
- 7
- States / cities
- La Jolla, California • San Diego, California • San Jose, California + 4 more
- 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
- Pregnancy Related, Cystic Fibrosis
- Interventions
- Not listed
- Lead sponsor
- Amalia Magaret
- Other
- Eligibility
- 16 Years and older · Female only
- Enrollment
- 285 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2027
- U.S. locations
- 40
- States / cities
- Birmingham, Alabama • Little Rock, Arkansas • La Jolla, California + 35 more
- Conditions
- Sickle Cell Disease
- Interventions
- panobinostat
- Drug
- Lead sponsor
- Abdullah Kutlar
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 18 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2027
- U.S. locations
- 1
- States / cities
- Augusta, Georgia
- 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
- Beta Thalassemia
- Interventions
- 5-Azacytidine
- Drug
- Lead sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- NIH
- Eligibility
- Not listed
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2000 – 2003
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Sickle Cell Disease, Sickle Cell Anemia
- Interventions
- vorinostat
- Drug
- Lead sponsor
- Dana-Farber Cancer Institute
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2009 – 2014
- U.S. locations
- 3
- States / cities
- Boston, Massachusetts
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Interventions
- Not listed
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- 18 Years to 60 Years · Female only
- Enrollment
- 3,062 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2015
- U.S. locations
- 27
- States / cities
- Mobile, Alabama • Tucson, Arizona • Campbell, California + 24 more
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X
- Interventions
- Not listed
- Lead sponsor
- Women and Infants Hospital of Rhode Island
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2015
- U.S. locations
- 1
- States / cities
- Providence, Rhode Island
- Conditions
- Down Syndrome, Fetal Aneuploidy
- Interventions
- Not listed
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 2,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2028
- U.S. locations
- 12
- States / cities
- Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
- Conditions
- Chromosome Disorders
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 16 Years to 45 Years · Female only
- Enrollment
- 3,500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1987 – 2003
- U.S. locations
- 5
- States / cities
- Chicago, Illinois • Boston, Massachusetts • Detroit, Michigan + 2 more
- Conditions
- Smith-Lemli-Opitz Syndrome, Pregnancy
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Female only
- Enrollment
- 1,800 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2001 – 2005
- U.S. locations
- 1
- States / cities
- Scarborough, Maine
- Conditions
- Sickle Cell Disease
- Interventions
- Autologous CD34+ HSC cells transduced with the lentiviral vector containing a shRNA targeting BCL11a
- Biological
- Lead sponsor
- David Williams
- Other
- Eligibility
- 13 Years to 55 Years
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Fetal Growth Retardation
- Interventions
- somatropin (rDNA)
- Drug
- Lead sponsor
- Massachusetts General Hospital
- Other
- Eligibility
- 8 Years to 12 Years
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2005 – 2011
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Sickle Cell Disease
- Interventions
- Hydroxyurea
- Drug
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 15 Years to 99 Years
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2018
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Nonimmune Fetal Hydrops, Nonimmune Hydrops in Neonate, Genetic Disorders
- Interventions
- Whole Exome Sequencing, Whole Genome Sequencing
- Diagnostic Test
- Lead sponsor
- Thomas Jefferson University
- Other
- Eligibility
- 16 Years to 55 Years
- Enrollment
- 55 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2025
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Preterm Birth, Premature Rupture of Membranes
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- Not listed
- Enrollment
- 6,838 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1999 – 2016
- U.S. locations
- 1
- States / cities
- Detroit, Michigan
- Conditions
- Sickle Cell Disease
- Interventions
- Pociredir
- Drug
- Lead sponsor
- Fulcrum Therapeutics
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2030
- U.S. locations
- 8
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Baton Rouge, Louisiana + 5 more
- 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
- Prenatal Care, Prenatal Diagnosis
- Interventions
- Not listed
- Lead sponsor
- The Cleveland Clinic
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 78 participants
- Timeline
- 2025 – 2026
- U.S. locations
- 2
- States / cities
- Cleveland, Ohio