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ClinicalTrials.gov public records Last synced Jul 21, 2026, 5:32 PM EDT

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Showing 1–24 of 34 matching trials from the live ClinicalTrials.gov search.
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Conditions
Hernia, Hernia, Diaphragmatic, Hernia, DIaphragmatic, Congenital, Pathological Conditions, Anatomical, Congenital Abnormalities, Congenital Diaphragmatic Hernia, Fetal Anomaly, Fetal Surgery, Pulmonary Hypoplasia
Interventions
GoldBal2 detachable balloon, Baltaccidbpe100 Delivery Catheter, Standardized postnatal care
Device · Other
Lead sponsor
Michael A Belfort
Other
Eligibility
18 Years to 64 Years · Female only
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Houston, Texas
Conditions
Obesity, Myelomeningocele, Pregnancy, Diabetes Mellitus in Pregnancy, Fetal Anomaly
Interventions
Open Fetal Repair of Myelomeningocele
Procedure
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
16 Years to 45 Years · Female only
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
2
States / cities
Houston, Texas
Conditions
Obesity, Pregnancy Complications, Fetal Anomaly, Pannus
Interventions
traxi® Panniculus Retractor
Device
Lead sponsor
Prisma Health-Upstate
Other
Eligibility
16 Years and older · Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022
U.S. locations
1
States / cities
Greenville, South Carolina
Conditions
Pregnancy
Interventions
Not listed
Lead sponsor
Illumina, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,209 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
8
States / cities
Phoenix, Arizona • Hagerstown, Maryland • Greensboro, North Carolina + 5 more
Conditions
Neurodevelopmental Abnormality
Interventions
Randomized to Umbilical Cord Milking at birth, Randomized to Delayed Cord Clamping at birth
Procedure
Lead sponsor
Sharp HealthCare
Other
Eligibility
22 Months to 42 Months
Enrollment
1,200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
15
States / cities
Birmingham, Alabama • Loma Linda, California • Los Angeles, California + 10 more
Completed No phase listed Observational Accepts healthy volunteers Results available

ASPIRIN: Neurodevelopmental Follow-up Trial

NCT04888377
Conditions
Neurodevelopmental Abnormality
Interventions
Aspirin, Placebo
Drug
Lead sponsor
NICHD Global Network for Women's and Children's Health
Network
Eligibility
33 Months to 39 Months
Enrollment
666 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
8
States / cities
Birmingham, Alabama • Denver, Colorado • Newark, Delaware + 5 more
Conditions
Point-of-Care Bladder Ultrasound, Urethral Catheter
Interventions
Bladder Ultrasound, Standard of Care
Device · Other
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
8 Years to 18 Years · Female only
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
1
States / cities
Birmingham, Alabama
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
Preterm Birth, Breast Milk Expression, Nutrition Disorder, Infant, Brain Development Abnormality, Neurodevelopmental Disorders
Interventions
Individually targeted fortification
Other
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
1 Day to 21 Days
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Completed Phase 1 Interventional Results available

Renal Anhydramnios Fetal Therapy

NCT03101891
Conditions
Anhydramnios, Potter Syndrome, Lung Hypoplasia, Multicystic Dysplastic Kidney, Multicystic Renal Dysplasia, Bilateral, Lower Urinary Tract Obstructive Syndrome, Fetal Renal Anomaly
Interventions
Serial amnioinfusions with isotonic fluid, Spinal needle, Isotonic fluid
Procedure · Device · Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years and older · Female only
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2026
U.S. locations
9
States / cities
Los Angeles, California • San Francisco, California • Stanford, California + 6 more
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
Bladder Cancer, Urothelial Carcinoma, Metastatic Urothelial Carcinoma, Renal Pelvis Carcinoma, Ureter Carcinoma, Urinary Bladder Carcinoma, Urethra Carcinoma, Muscle Invasive Bladder Cancer
Interventions
Rucaparib
Drug
Lead sponsor
pharmaand GmbH
Industry
Eligibility
18 Years and older
Enrollment
97 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
41
States / cities
Scottsdale, Arizona • La Jolla, California • Los Angeles, California + 35 more
Not listed No phase listed Observational Accepts healthy volunteers

Childhood Outcomes of Preterm Brain Abnormalities

NCT03410810
Conditions
Premature Birth, Neurodevelopmental Disorders, Brain Development Abnormality, Brain Lesion
Interventions
MRI, Neurodevelopmental/Neuropsychological Assessment
Diagnostic Test
Lead sponsor
Children's Hospital Los Angeles
Other
Eligibility
Up to 8 Years
Enrollment
80 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2025
U.S. locations
1
States / cities
Los Angeles, California
Conditions
Ovarian Torsion
Interventions
Furosemide, Normal saline
Drug
Lead sponsor
Connecticut Children's Medical Center
Other
Eligibility
8 Years to 18 Years · Female only
Enrollment
42 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Hartford, Connecticut
Completed No phase listed Observational Accepts healthy volunteers

Fetal 3D Study (Fetal Body Composition and Volumes Study)

NCT03266198
Conditions
Fetal Growth Restriction, Fetal Growth Abnormality
Interventions
No intervention
Other
Lead sponsor
Katherine Grantz
NIH
Eligibility
18 Years to 45 Years · Female only
Enrollment
2,809 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2019
U.S. locations
1
States / cities
Houston, Texas
Conditions
Epithelial Ovarian Cancer, Primary Peritoneal, Fallopian Tube Cancer, Newly Diagnosed, FIGO Stage III-IV, Partial Response, Complete Response
Interventions
Rucaparib, Nivolumab, Placebo Oral Tablet, Placebo IV Infusion
Drug
Lead sponsor
pharmaand GmbH
Industry
Eligibility
18 Years and older · Female only
Enrollment
1,097 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2030
U.S. locations
64
States / cities
Phoenix, Arizona • Tucson, Arizona • Concord, California + 55 more
Conditions
Hydrops Fetalis, Birth Defect, Fetal Anomaly
Interventions
Exome sequencing
Diagnostic Test
Lead sponsor
University of California, San Francisco
Other
Eligibility
18 Years to 55 Years
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
San Francisco, California
Conditions
Genetic Disease, Genetic Syndrome, Prenatal Disorder, Prenatal Maternal Abnormality, Pregnancy Complications
Interventions
NEST, Usual care
Behavioral
Lead sponsor
The Cleveland Clinic
Other
Eligibility
18 Years and older
Enrollment
691 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
2
States / cities
Cleveland, Ohio
Recruiting Not applicable Interventional

Amnioinfusion for Fetal Renal Failure

NCT06728228
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
Completed Phase 4 Interventional Accepts healthy volunteers

Mifepristone and Misoprostol for Fetal Demise

NCT00177372
Conditions
Anembryonic Pregnancy, Gestation Abnormality, Intrauterine Fetal Demise Term
Interventions
mifepristone/misoprostol
Drug
Lead sponsor
University of Pittsburgh
Other
Eligibility
18 Years and older · Female only
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Conditions
Genitourinary Abnormality, Breast Cancer Female, Vaginal Abnormality, Urinary Tract Infections, Dyspareunia, Dysuria
Interventions
Replens and coconut oil
Combination Product
Lead sponsor
Alta Bates Summit Medical Center
Other
Eligibility
Female only
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Berkeley, California
Conditions
HELLP Syndrome (HELLP), Third Trimester, Complement Abnormality, Morbidity;Newborn, Maternal Injury, Preeclampsia Severe
Interventions
Eculizumab
Drug
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Fetal Growth Abnormality, Amniotic Fluid; Disorder
Interventions
Point-of-care ultrasound (POC-US), Routine antenatal care, Formal ultrasound
Diagnostic Test
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
18 Years to 50 Years · Female only
Enrollment
113 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Houston, Texas
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