Search | Clinical Trials Finder

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: FLT3 Gene Mutation Negative, FLT3 Internal Tandem Duplication Positive, Recurrent Acute Myeloid Leukemia, Recurrent Chronic Myelomonocytic Leukemia, Recurrent Myelodysplastic Syndrome, Refractory Acute Myeloid Leukemia, Refractory Chronic Myelomonocytic Leukemia, Refractory Myelodysplastic Syndrome
Interventions: Azacitidine, Cytarabine, Quizartinib; Drug
Lead sponsor: M.D. Anderson Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 73 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2023
U.S. locations: 1
States / cities: Houston, Texas

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, 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, 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, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
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: Acute Myeloid Leukemia (AML) With, FLT3 Mutation, Internal Tandem Duplication (ITD) or Tyrosine Kinase Domain (TKD)
Interventions: Midostaurin; Drug
Lead sponsor: Novartis Pharmaceuticals; Industry
Eligibility: 18 Years and older
Healthy volunteers: Healthy volunteers not accepted
U.S. locations: 44
States / cities: Phoenix, Arizona • Berkeley, California • Duarte, California + 35 more

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: 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

Conditions: Acute Myeloid Leukemia With t(9;11)(p22.3;q23.3); MLLT3-KMT2A, Fibroblast Growth Factor Basic Form Measurement, FLT3 Internal Tandem Duplication, Recurrent Adult Acute Myeloid Leukemia, Refractory Acute Myeloid Leukemia
Interventions: Azacitidine, Laboratory Biomarker Analysis, Nintedanib; Drug · Other
Lead sponsor: Northwestern University; Other
Eligibility: 18 Years and older
Enrollment: 44 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2027
U.S. locations: 1
States / cities: Chicago, Illinois

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: 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: Low Grade Glioma (LGG) of Brain With BRAF Aberration, High Grade Glioma (HGG) of the Brain With BRAF Aberration, Low Grade Glioma of Brain With Neurofibromatosis Type 1
Interventions: Dabrafenib, Trametinib, Hydroxychloroquine; Drug
Lead sponsor: Pediatric Brain Tumor Consortium; Network
Eligibility: 1 Year to 30 Years
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2026
U.S. locations: 15
States / cities: Phoenix, Arizona • Los Angeles, California • Palo Alto, California + 12 more

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: Uterine Septum, Surgical Complication, Septum; Uterus, Treatment Side Effects, Treatment
Interventions: Removal of uterine septum with hysteroscopic scissors without electrosurgery., Hysteroscopic septoplasty utilizing bipolar electrosurgery; Procedure
Lead sponsor: Northwestern University; Other
Eligibility: 22 Years to 44 Years · Female only
Enrollment: 40 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2026
U.S. locations: 1
States / cities: Chicago, Illinois

Conditions: Leukemia
Interventions: reverse transcriptase-polymerase chain reaction; Genetic
Lead sponsor: Alliance for Clinical Trials in Oncology; Other
Eligibility: 15 Years and older
Enrollment: 9,769 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1999 – 2006
U.S. locations: 46
States / cities: Birmingham, Alabama • La Jolla, California • San Francisco, California + 28 more

Conditions: Duchenne Muscular Dystrophy
Interventions: scAAV9.U7.ACCA; Biological
Lead sponsor: Megan Waldrop; Other
Eligibility: 6 Months to 13 Years · Male only
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2025
U.S. locations: 1
States / cities: Columbus, Ohio

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 &#X7C; Blood or Tissue &#X7C; 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: Rett Syndrome, Preserved Speech Variant, Mecp2 Duplication Syndrome, Rett-related Disorders
Interventions: Auditory and Visual Event-related Potentials and EEG; Procedure
Lead sponsor: University of Alabama at Birmingham; Other
Eligibility: 2 Years to 65 Years
Enrollment: 185 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2017 – 2021
U.S. locations: 5
States / cities: Denver, Colorado • Boston, Massachusetts • Cincinnati, Ohio + 2 more

Conditions: Sex Chromosome Aneuploidy
Interventions: no intervention; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 0 Days to 100 Years
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2037
U.S. locations: 1
States / cities: Aurora, Colorado

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 &#X7C; Blood or Tissue &#X7C; 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: 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: 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: 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: Intrauterine Adhesion
Interventions: Intraoperative placement of an inflated intrauterine pediatric foley catheter, No Catheter placement, Hormonal Therapy Agent, Oral antibiotics; Procedure · Drug
Lead sponsor: Weill Medical College of Cornell University; Other
Eligibility: 18 Years and older · Female only
Enrollment: 320 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 3
States / cities: Little Rock, Arkansas • New York, New York • Cleveland, Ohio

Conditions: Duchenne Muscular Dystrophy
Interventions: Amondys 45, Exondys 51, Vyondys 53; Drug
Lead sponsor: Kevin Flanigan; Other
Eligibility: 6 Months and older · Male only
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 1
States / cities: Columbus, Ohio

Search by objective public record fields.

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

Quizartinib With Azacitidine or Cytarabine in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia or Myelodysplastic Syndrome

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Midostaurin Access Program for Newly Diagnosed FLT3 (ITD or TKD) Mutated AML Adult Patients Eligible for Standard Induction and Consolidation Chemotherapy

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Defining the Brain Phenotype of Children With Williams Syndrome

Nintedanib and Azacitidine in Treating Participants With HOX Gene Overexpression Relapsed or Refractory Acute Myeloid Leukemia

Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

A Trial of Dabrafenib, Trametinib and Hydroxychloroquine for Patients With Recurrent LGG or HGG With a BRAF Aberration

A Study of Soticlestat in Adults and Children With Rare Epilepsies

Surgical Approach to Uterine Septum

Diagnostic Study of Gene Alterations in Patients With Acute Myeloid Leukemia

AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.

A Study to Evaluate the Safety and Efficacy of Basmisanil Treatment in Children Aged 2-14 Years With Dup15q Syndrome

The Myelin Disorders Biorepository Project

Rare Diseases Clinical Research Network: Neurophysiological Correlates

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Expanded Access Program for Revumenib

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

Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

Intrauterine Stent Placement Following Hysteroscopic Septum Resection

A 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 in Subjects With DuchenneMuscular Dystrophy Carrying Eligible DMD Duplications.