- Conditions
- Williams Syndrome, Duplication
- Interventions
- Not listed
- Lead sponsor
- National Institute of Mental Health (NIMH)
- NIH
- Eligibility
- 5 Years and older
- Enrollment
- 415 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 2011
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
Search Results
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Showing 25–42
of 18
matching trials from the live ClinicalTrials.gov search.
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- Conditions
- Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome
- Interventions
- Lumbar Puncture, Blood Collection
- Procedure
- Lead sponsor
- Biogen
- Industry
- Eligibility
- Up to 50 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 5
- States / cities
- San Diego, California • Chicago, Illinois • Boston, Massachusetts + 2 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
- Epilepsy, Dravet Syndrome (DS), Lennox-Gastaut Syndrome (LGS)
- Interventions
- Soticlestat
- Drug
- Lead sponsor
- Takeda
- Industry
- Eligibility
- 2 Years and older
- Enrollment
- 156 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2025
- U.S. locations
- 27
- States / cities
- Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 18 more
- Conditions
- Acute Myeloid Leukemia (AML), Acute Myeloid Leukemia With FMS-like Tyrosine Kinase 3 (FLT3) Mutation / Internal Tandem Duplication (ITD)
- Interventions
- gilteritinib, fludarabine, cytarabine, granulocyte colony-stimulating factor (G-CSF)
- Drug
- Lead sponsor
- Astellas Pharma Global Development, Inc.
- Industry
- Eligibility
- 6 Months to 21 Years
- Enrollment
- 9 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2025
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
- Interventions
- Not listed
- Lead sponsor
- Columbia University
- Other
- Eligibility
- Not listed
- Enrollment
- 1,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2011 – 2026
- U.S. locations
- 16
- States / cities
- San Diego, California • Stanford, California • Aurora, Colorado + 12 more
- Conditions
- Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
- Interventions
- Not listed
- Lead sponsor
- Ionis Pharmaceuticals, Inc.
- Industry
- Eligibility
- 1 Month to 65 Years · Male only
- Enrollment
- 29 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2025
- U.S. locations
- 5
- States / cities
- San Diego, California • Saint Paul, Minnesota • Philadelphia, Pennsylvania + 2 more
- Conditions
- Rett Syndrome, MECP2 Duplication Disorder, Rett-related Disorder
- Interventions
- Not listed
- Lead sponsor
- University of Alabama at Birmingham
- Other
- Eligibility
- Not listed
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2006 – 2015
- U.S. locations
- 11
- States / cities
- Birmingham, Alabama • Oakland, California • San Diego, California + 8 more
- Conditions
- RAI1 Gene 17P11.2 Deletion+Duplication
- Interventions
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Diagnostic Test · Procedure
- Lead sponsor
- Baylor College of Medicine
- Other
- Eligibility
- 1 Month to 80 Years
- Enrollment
- 90 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2024 – 2027
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- Dup15q Syndrome
- Interventions
- Basmisanil, Placebo
- Drug
- Lead sponsor
- Hoffmann-La Roche
- Industry
- Eligibility
- 2 Years to 14 Years
- Enrollment
- 7 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2024
- U.S. locations
- 2
- States / cities
- Los Angeles, California • Chicago, Illinois
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus Merzbacher Like Disease, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Not listed
- Enrollment
- 12,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2030
- U.S. locations
- 23
- States / cities
- Los Angeles, California • Orange, California • Palo Alto, California + 18 more
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Up to 18 Years
- Enrollment
- 236 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, POMGNT1, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q34 Duplication, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2
- Interventions
- Not listed
- Lead sponsor
- Simons Searchlight
- Other
- Eligibility
- Not listed
- Enrollment
- 100,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2050
- U.S. locations
- 2
- States / cities
- Boston, Massachusetts • Lewisburg, Pennsylvania
- 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 – 2026
- U.S. locations
- 12
- States / cities
- Birmingham, Alabama • Los Angeles, California • San Diego, California + 6 more
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, Lynch Syndrome I (Site-specific Colonic Cancer), HNPCC, HNPCC Gene Mutation, Hereditary Cancer Syndrome, Hereditary Cancer, MLH1 Gene Mutation, MLH1 Gene Deletion+Duplication, MLH1 Loss of Expression, MLH1 Gene Inactivation, MSH2 Gene Mutation, MSH2 Gene Deletion+Duplication, MSH2 Loss of Expression, MSH2 Gene Inactivation, MSH6 Gene Mutation, MSH6 Loss of Expression, MSH6 Gene Inactivation, PMS2 Gene Mutation, PMS2 Gene Inactivation, PMS2 Loss of Expression
- Interventions
- LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)
- Diagnostic Test
- Lead sponsor
- San Raffaele University
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 300 participants
- Timeline
- 2023 – 2034
- U.S. locations
- 1
- States / cities
- Monrovia, California
- Conditions
- Relapsed/Refractory Acute Leukemia
- Interventions
- Revumenib
- Drug
- Lead sponsor
- Syndax Pharmaceuticals
- Industry
- Eligibility
- 6 Months and older
- U.S. locations
- 35
- States / cities
- Birmingham, Alabama • Phoenix, Arizona • Duarte, California + 26 more
- Conditions
- Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
- Interventions
- Not listed
- Lead sponsor
- University of Alabama at Birmingham
- Other
- Eligibility
- Not listed
- Enrollment
- 1,044 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2021
- U.S. locations
- 14
- States / cities
- Birmingham, Alabama • Oakland, California • San Diego, California + 11 more
- Conditions
- Acute Myeloid Leukemia
- Interventions
- Gilteritinib, Midostaurin, Daunorubicin, Cytarabine
- Drug
- Lead sponsor
- PrECOG, LLC.
- Other
- Eligibility
- 18 Years to 70 Years
- Enrollment
- 181 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2026
- U.S. locations
- 44
- States / cities
- Scottsdale, Arizona • Clovis, California • Los Angeles, California + 36 more