- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
- Interventions
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Behavioral
- Lead sponsor
- Children's National Research Institute
- Other
- Eligibility
- 12 Months to 99 Years
- Enrollment
- 480 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2029
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
Search Results
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Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
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Showing 1–20
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- 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
- 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
- Vanishing Twin, Trisomy 21, Trisomy 13, Trisomy 18
- Interventions
- Not listed
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 126 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 21
- States / cities
- Los Angeles, California • Palo Alto, California • Aurora, Colorado + 15 more
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Interventions
- Blood Draw
- Procedure
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- Female only
- Enrollment
- 937 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2012 – 2023
- U.S. locations
- 24
- States / cities
- Birmingham, Alabama • Los Angeles, California • San Francisco, California + 16 more
- Conditions
- Down Syndrome, Trisomy 18, Trisomy 13
- Interventions
- SmartNIPT
- Other
- Lead sponsor
- Women and Infants Hospital of Rhode Island
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 2,443 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2020
- U.S. locations
- 13
- States / cities
- Los Angeles, California • Aurora, Colorado • Bridgeport, Connecticut + 9 more
- 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
- 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
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Interventions
- Not listed
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 99 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2014 – 2019
- U.S. locations
- 4
- States / cities
- Boston, Massachusetts • Glen Cove, New York • New York, New York + 1 more
- Conditions
- Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
- Interventions
- Not listed
- Lead sponsor
- Verinata Health, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 3,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2012
- U.S. locations
- 26
- States / cities
- San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 more
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Interventions
- Not listed
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 354 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2013 – 2019
- U.S. locations
- 6
- States / cities
- San Carlos, California • San Diego, California • New York, New York + 2 more
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Turner Syndrome
- Interventions
- Not listed
- Lead sponsor
- Sequenom, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2015
- U.S. locations
- 1
- States / cities
- Denver, Colorado
- 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
- Conditions
- Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13, Down Syndrome
- Interventions
- Not listed
- Lead sponsor
- Cindy Cisneros
- Industry
- Eligibility
- 18 Years to 60 Years · Female only
- Enrollment
- 2,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2014 – 2019
- U.S. locations
- 3
- States / cities
- San Diego, California • Oaks, Pennsylvania • Chattanooga, Tennessee
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome, Fragile X Syndrome, Cri-du-Chat Syndrome, De Lange Syndrome, Mental Retardation, X-Linked, Prader-Willi Syndrome, Rubinstein-Taybi Syndrome, Trisomy 13 Syndrome, WAGR Syndrome, Williams Syndrome
- Interventions
- PACE Program
- Behavioral
- Lead sponsor
- University of North Carolina, Chapel Hill
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 376 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2028
- U.S. locations
- 2
- States / cities
- Fayetteville, Arkansas • Chapel Hill, North Carolina
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities
- Interventions
- Not listed
- Lead sponsor
- BillionToOne Inc.
- Industry
- Eligibility
- Female only
- Enrollment
- 1,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2028
- U.S. locations
- 6
- States / cities
- Phoenix, Arizona • West Covina, California • Sarasota, Florida + 3 more
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
- Interventions
- Observational - no intervention
- Other
- Lead sponsor
- Progenity, Inc.
- Industry
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 5,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2015 – 2021
- U.S. locations
- 1
- States / cities
- Chattanooga, Tennessee
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
- Interventions
- Not listed
- Lead sponsor
- Natera, Inc.
- Industry
- Eligibility
- 18 Years to 48 Years · Female only
- Enrollment
- 20,960 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2015 – 2020
- U.S. locations
- 16
- States / cities
- San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 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