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Showing 169–192 of 411 matching trials from the live ClinicalTrials.gov search.
Conditions
Usher Syndrome, Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1999
U.S. locations
1
States / cities
Portland, Oregon
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
0 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Seattle, Washington
Completed Not applicable Interventional Accepts healthy volunteers Results available

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

NCT02985710
Conditions
Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
Interventions
Sudoscan, Skin biopsy, QSART
Device · Procedure
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
8 Years to 70 Years
Enrollment
102 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Adrenocortical Carcinoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Non-Small Cell Lung Cancer, Advanced Non-Small Cell Squamous Lung Cancer, Metastatic Lung Non-Small Cell Carcinoma, Metastatic Lung Cancer, NSCLC, Advanced Lung Carcinoma, Epidermal Growth Factor Receptor C797S, Epidermal Growth Factor Receptor G719X, EGF-R Positive Non-Small Cell Lung Cancer, EGFR-TKI Resistant Mutation
Interventions
silevertinib (BDTX-1535) monotherapy
Drug
Lead sponsor
Black Diamond Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
25
States / cities
Birmingham, Alabama • Gilbert, Arizona • Huntington Beach, California + 20 more
Conditions
Toxoplasmosis
Interventions
Leucovorin calcium, Pyrimethamine, Spiramycin, Sulfadiazine
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2030
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
Polycythemia Vera, ET (Essential Thrombocythemia), Polycythemia Vera (PV), Essential Thrombocythemia (ET), Primary Myelofibrosis (MF), Primary Myelofibrosis (PMF), Myelofibrosis, Myelofibrosis (MF), Myelofibrosis, Primary, Myelofibrosis, Post ET, Myelofibrosis, Post PV, Myelofibrosis (PMF), Myelofibrosis,MF, Myelofibrosis; Primary Myelofibrosis; Post-polycythemia Vera Myelofibrosis; Post-essential Thrombocythemia Myelofibrosis, Myelofibrosis Due to and Following Polycythemia Vera, Myelofibrosis Transformation in Essential Thrombocythemia, Myelofibrosis With High Molecular Risk Mutations, MF, Secondary Myelofibrosis, Secondary Myelofibrosis in Myeloproliferative Disease, Secondary Myelofibrosis (Post-Polycythemia Vera Myelofibrosis, Post-Essential Thrombocythemia Myelofibrosis), Post-Polycythemia Vera Myelofibrosis, Post-polycythemia Vera Myelofibrosis (PPV-MF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), Post-polycythemia Vera Myelofibrosis(Post-PV MF), Post-PV MF, Post-Essential Thrombocythemia Myelofibrosis, Post-essential Thrombocythemia Myelofibrosis (PET-MF), Post-essential Thrombocythemia Myelofibrosis(Post-ET MF), Post-essential Thrombocythemia Myelofibrosis (Post-ET MF), Post-ET MF, Pre-fibrotic Myelofibrosis, Myeloproliferative Disorder, Myeloproliferative Disorders, Myeloproliferative Disorders (MPD), Myeloproliferative Neoplasms (MPNs), Myeloproliferative Neoplasm(MPN)-Associated Myelofibrosis, Myeloproliferative Neoplasm With 10% Blasts or Higher, Myeloproliferative Neoplasms, MPN, MPN (Myeloproliferative Neoplasms), MPN-associated Myelofibrosis, Myeloproliferative Neoplasm, Unclassifiable, Myeloproliferative Neoplasm, Not Otherwise Specified, Accelerated Phase MPN, Accelerated Phase Myeloproliferative Neoplasm, Blast Phase MPN, Blast Phase Myeloproliferative Neoplasm, Thrombocythemia Myelofibrosis (PET-MF), Thrombocythemia, Essential, Thrombocythemia, Hemorrhagic, Agnogenic Myeloid Metaplasia, Chronic Idiopathic Myelofibrosis, Idiopathic Myelofibrosis, MDS/MPN Crossover Syndromes
Interventions
Not listed
Lead sponsor
MPN Research Foundation
Other
Eligibility
18 Years and older
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2035
U.S. locations
2
States / cities
Chicago, Illinois • New York, New York
Conditions
Pervasive Child Development Disorders, Autism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 9 Years
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
2
States / cities
New Haven, Connecticut • Chicago, Illinois
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
diet
Behavioral
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Portland, Oregon
Conditions
Anaplastic Large Cell Lymphoma, ALK-Negative, Anaplastic Large Cell Lymphoma, ALK-Positive, Apocrine Carcinoma, Carcinoma Arising From Cylindroma, Carcinoma Arising From Spiradenoma, Digital Papillary Adenocarcinoma, Endocrine Mucin-Producing Sweat Gland Carcinoma, Extramammary Paget Disease, Extraocular Sebaceous Carcinoma, Hidradenocarcinoma, Malignant Sweat Gland Neoplasm, Merkel Cell Carcinoma, Microcystic Adnexal Carcinoma, NK-Cell Lymphoma, Unclassifiable, Papillary Adenocarcinoma, Porocarcinoma, Primary Cutaneous Mucinous Carcinoma, Recurrent Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma, Recurrent T-Cell Non-Hodgkin Lymphoma, Refractory Anaplastic Large Cell Lymphoma, Refractory Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma, Refractory Merkel Cell Carcinoma, Refractory Mycosis Fungoides, Refractory Primary Cutaneous T-Cell Non-Hodgkin Lymphoma, Refractory Skin Squamous Cell Carcinoma, Refractory T-Cell Non-Hodgkin Lymphoma, Sezary Syndrome, Signet Ring Cell Adenocarcinoma, Skin Adenoid Cystic Carcinoma, Skin Adnexal Carcinoma, Skin Basal Cell Carcinoma, Skin Basosquamous Cell Carcinoma, Skin Keratoacanthoma, Skin Squamous Cell Carcinoma, Squamoid Eccrine Ductal Carcinoma, Squamous Cell Carcinoma of Unknown Primary, Sweat Gland Carcinoma, Trichilemmal Carcinoma, Vulvar Squamous Cell Carcinoma
Interventions
Biopsy Procedure, Biospecimen Collection, Computed Tomography, Laboratory Biomarker Analysis, Nivolumab, Positron Emission Mammography, Talimogene Laherparepvec
Procedure · Other · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
36
States / cities
Los Angeles, California • Orange, California • Pasadena, California + 28 more
Conditions
Lymphoma, Adult T-Cell Leukemia/Lymphoma, Lymphatic Diseases
Interventions
Brentuximab Vedotin, CHEP
Drug
Lead sponsor
UNC Lineberger Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
4
States / cities
Hollywood, Florida • Boston, Massachusetts • Chapel Hill, North Carolina
Conditions
Aplastic Anemia
Interventions
anti-thymocyte globulin, cyclophosphamide, cyclosporine, mesna, methotrexate, methylprednisolone
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years to 55 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Los Angeles, California
Completed No phase listed Observational Accepts healthy volunteers

Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

NCT02670694
Conditions
Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
Interventions
Not listed
Lead sponsor
Baylor College of Medicine
Other
Eligibility
1 Year to 18 Years
Enrollment
804 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2013
U.S. locations
9
States / cities
Birmingham, Alabama • Irvine, California • San Diego, California + 6 more
Completed No phase listed Observational

Rare CNS Tumors Outcomes &Risk

NCT03251989
Conditions
High Grade Meningioma, Ependymoma, Medulloblastoma, PNET, Primary CNS Sarcoma
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
326 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Lymphangioleiomyomatosis
Interventions
Sirolimus, Everolimus
Drug
Lead sponsor
University of Cincinnati
Other
Eligibility
18 Years and older · Female only
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2025
U.S. locations
20
States / cities
Stanford, California • Denver, Colorado • Jacksonville, Florida + 17 more
Recruiting No phase listed Observational

UW Undiagnosed Genetic Diseases Program

NCT04586075
Conditions
Rare Diseases, Genetic Disease, Undiagnosed Disease
Interventions
Trio Whole Genome Sequencing and Participant-Specific Research
Diagnostic Test
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
Up to 100 Years
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2030
U.S. locations
1
States / cities
Madison, Wisconsin
Completed No phase listed Observational

23andMe IPF Research Study

NCT05028894
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
No intervention
Other
Lead sponsor
23andMe, Inc.
Industry
Eligibility
18 Years and older
Enrollment
690 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Sunnyvale, California
Conditions
Bladder Adenocarcinoma, Bladder Clear Cell Adenocarcinoma, Bladder Mixed Adenocarcinoma, Bladder Neuroendocrine Carcinoma, Bladder Small Cell Neuroendocrine Carcinoma, Bladder Squamous Cell Carcinoma, Chromophobe Renal Cell Carcinoma, Collecting Duct Carcinoma, Invasive Bladder Giant Cell Urothelial Carcinoma, Invasive Bladder Lymphoepithelioma-Like Carcinoma, Invasive Bladder Nested Urothelial Carcinoma, Invasive Bladder Plasmacytoid Urothelial Carcinoma, Invasive Bladder Sarcomatoid Urothelial Carcinoma, Invasive Bladder Urothelial Carcinoma, Kidney Medullary Carcinoma, Large Cell Neuroendocrine Carcinoma, Malignant Testicular Leydig Cell Tumor, Malignant Testicular Sertoli Cell Tumor, Metastatic Bladder Carcinoma, Metastatic Bladder Clear Cell (Glycogen-Rich) Urothelial Carcinoma, Metastatic Bladder Giant Cell Urothelial Carcinoma, Metastatic Bladder Large Cell Neuroendocrine Carcinoma, Metastatic Bladder Lipid-Rich Urothelial Carcinoma, Metastatic Bladder Micropapillary Urothelial Carcinoma, Metastatic Bladder Plasmacytoid Urothelial Carcinoma, Metastatic Bladder Sarcomatoid Urothelial Carcinoma, Metastatic Bladder Small Cell Neuroendocrine Carcinoma, Metastatic Bladder Squamous Cell Carcinoma, Metastatic Chromophobe Renal Cell Carcinoma, Metastatic Kidney Medullary Carcinoma, Metastatic Malignant Genitourinary System Neoplasm, Metastatic Papillary Renal Cell Carcinoma, Metastatic Penile Carcinoma, Metastatic Prostate Small Cell Neuroendocrine Carcinoma, Metastatic Sarcomatoid Renal Cell Carcinoma, Metastatic Urethral Carcinoma, Papillary Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Stage IV Bladder Cancer AJCC v8, Stage IV Penile Cancer AJCC v8, Stage IV Renal Cell Cancer AJCC v8, Stage IV Urethral Cancer AJCC v8, Stage IVB Prostate Cancer AJCC v8, Urachal Adenocarcinoma, Urethral Clear Cell Adenocarcinoma
Interventions
Biospecimen Collection, Bone Scan, Cabozantinib S-malate, Computed Tomography, Echocardiography Test, Ipilimumab, Magnetic Resonance Imaging, Nivolumab, Positron Emission Tomography
Procedure · Drug · Biological
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
314 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
580
States / cities
Birmingham, Alabama • Anchorage, Alaska • Kingman, Arizona + 376 more
Conditions
Anaplastic Astrocytoma, Anaplastic Ependymoma, Anaplastic Ganglioglioma, Anaplastic Meningioma, Anaplastic Oligodendroglioma, Pleomorphic Xanthoastrocytoma, Anaplastic, Atypical Teratoid/Rhabdoid Tumor, Brain Cancer, Brain Tumor, Central Nervous System Neoplasms, Choroid Plexus Carcinoma, CNS Embryonal Tumor With Rhabdoid Features, Ganglioneuroblastoma of Central Nervous System, CNS Tumor, Embryonal Tumor of CNS, Ependymoma, Glioblastoma, Glioma, Glioma, Malignant, Medulloblastoma, Medulloblastoma; Unspecified Site, Medulloepithelioma, Neuroepithelial Tumor, Neoplasms, Neoplasms, Neuroepithelial, Papillary Tumor of the Pineal Region (High-grade Only), Pediatric Brain Tumor, Pineal Parenchymal Tumor of Intermediate Differentiation (High-grade Only), Pineoblastoma, Primitive Neuroectodermal Tumor, Recurrent Medulloblastoma, Refractory Brain Tumor, Neuroblastoma. CNS, Glioblastoma, IDH-mutant, Glioblastoma, IDH-wildtype, Medulloblastoma, Group 3, Medulloblastoma, Group 4, Glioma, High Grade, Neuroepithelial Tumor, High Grade, Medulloblastoma, SHH-activated and TP53 Mutant, Medulloblastoma, SHH-activated and TP53 Wildtype, Medulloblastoma, Chromosome 9q Loss, Medulloblastoma, Non-WNT Non-SHH, NOS, Medulloblastoma, Non-WNT/Non-SHH, Medulloblastoma, PTCH1 Mutation, Medulloblastoma, WNT-activated, Ependymoma, Recurrent, Glioma, Recurrent High Grade, Glioma, Recurrent Malignant, Embryonal Tumor, NOS, Glioma, Diffuse Midline, H3K27M-mutant, Embryonal Tumor With Multilayered Rosettes (ETMR), Ependymoma, NOS, WHO Grade III, Ependymoma, NOS, WHO Grade II, Medulloblastoma, G3/G4, Ependymoma, RELA Fusion Positive
Interventions
Gemcitabine, ribociclib, sonidegib, trametinib, filgrastim
Drug · Biological
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
1 Year to 39 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
1
States / cities
Memphis, Tennessee
Conditions
Corneal Neovascularization
Interventions
Dihematoporphyrin derivative, prednisolone, Laser surgery
Drug · Procedure
Lead sponsor
Medical College of Hampton Roads
Other
Eligibility
12 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1994 – 1998
U.S. locations
1
States / cities
Norfolk, Virginia
Conditions
Glucosephosphate Dehydrogenase Deficiency, Hyperbilirubinemia, Hemolytic Disease of Newborn
Interventions
tin mesoporphyrin
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
0 Years to 24 Hours
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
2
States / cities
Boston, Massachusetts • New York, New York
Conditions
Epilepsy
Interventions
Ganaxolone
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
2 Years to 18 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2019
U.S. locations
9
States / cities
Phoenix, Arizona • Sacramento, California • San Francisco, California + 6 more
Completed Not applicable Interventional Results available

Electrical Activation of The Diaphragm for Ventilatory Assist

NCT00010374
Conditions
Spinal Cord Injury, Quadriplegia
Interventions
NeuRx DPS
Device
Lead sponsor
Synapse Biomedical
Industry
Eligibility
18 Years and older
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2008
U.S. locations
4
States / cities
Englewood, Colorado • Atlanta, Georgia • Cleveland, Ohio + 1 more