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Conditions: Gout
Interventions: Not listed
Lead sponsor: Arthritis & Rheumatism Associates, P.C.; Other
Eligibility: 18 Years and older
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2017
U.S. locations: 1
States / cities: Wheaton, Maryland

Conditions: Exocrine Pancreatic Insufficiency, Cystic Fibrosis
Interventions: Liprotamase, porcine PERT; Drug
Lead sponsor: Anthera Pharmaceuticals; Industry
Eligibility: 7 Years and older
Enrollment: 140 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2018
U.S. locations: 28
States / cities: Little Rock, Arkansas • Long Beach, California • Los Angeles, California + 24 more

Conditions: Myasthenic Syndromes, Congenital
Interventions: Not listed
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 6 Months to 99 Years
Enrollment: 75 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2044
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Propionic Acidemia, Methylmalonic Acidemia
Interventions: N-carbamylglutamate, Standard of Care; Drug · Other
Lead sponsor: Mendel Tuchman; Other
Eligibility: 1 Hour to 4 Weeks
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2015
U.S. locations: 7
States / cities: Los Angeles, California • Palo Alto, California • Aurora, Colorado + 4 more

Conditions: Congenital Diaphragmatic Hernia, Congenital Abnormalities, Neonatal Diseases and Abnormalities, Hernia, DIaphragmatic, Congenital, Internal Hernia, Hernia, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms
Interventions: Fetal Treatment Arm (FETO Group); Device
Lead sponsor: Johns Hopkins University; Other
Eligibility: 18 Years and older · Female only
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2031
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: PolG, Primary Mitochondrial Myopathy
Interventions: Not listed
Lead sponsor: The Emmes Company, LLC; Industry
Eligibility: 16 Years and older
Enrollment: 28 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2024
U.S. locations: 1
States / cities: Kingston, Massachusetts

Conditions: Adenocarcinoma, Adenocystic Carcinoma, Anal Cancer, Appendix Cancer, Brain Tumor, Glioblastoma, Astrocytoma, Bile Duct Cancer, Cholangiocarcinoma, Bladder Cancer, Bone Cancer, Synovial Sarcoma, Chondrosarcoma, Liposarcoma, Sarcoma, Kaposi, Sarcoma,Soft Tissue, Sarcoma, Osteosarcoma, CNS Cancer, Brain Stem Neoplasms, Breast Cancer, Cervical Cancer, Colorectal Cancer, Rectal Cancer, Colon Cancer, Esophageal Cancer, Esophagus Cancer, Cancer of Colon, Pancreatic Cancer, Cancer of Pancreas, Testis Cancer, Testicular Cancer, Ureter Cancer, Renal Cell Carcinoma, Kidney Cancer, Gestational Trophoblastic Tumor, Head and Neck Neoplasms, Parotid Tumor, Larynx Cancer, Tongue Cancer, Pharynx Cancer, Salivary Gland Cancer, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Acute Lymphoblastic Leukemia, Multiple Myeloma, Non Hodgkin Lymphoma, Carcinoid Tumor, Lung Cancer, Neuroendocrine Tumors, Mesothelioma, Thyroid Cancer, Parathyroid Neoplasms, Adrenal Cancer, Small Bowel Cancer, Stomach Cancer, Liver Cancer, Hepatic Cancer, Melanoma, Skin Cancer, Unknown Primary Tumors, Uterine Cancer, Fallopian Tube Cancer, Ovarian Cancer, Prostate Cancer, Vaginal Cancer, Penile Cancer, Vulvar Cancer, Waldenstrom Macroglobulinemia, Cancer, Advanced, Thymus Cancer, Nasopharyngeal Carcinoma, Multiple Endocrine Neoplasia, Pheochromocytoma, Small Cell Carcinoma, Pulmonary Carcinoma
Interventions: Biomarker Testing (L), Systemic Treatment (T), Patient Reported Outcomes (P); Diagnostic Test · Drug · Other
Lead sponsor: Taproot Health; Industry
Eligibility: 18 Years and older
Enrollment: 167 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2024
U.S. locations: 2
States / cities: Idaho Falls, Idaho • Laredo, Texas

Conditions: LCA (Leber Congenital Amaurosis), RP (Retinitis Pigmentosa)
Interventions: QLT091001; Drug
Lead sponsor: QLT Inc.; Industry
Eligibility: 5 Years to 65 Years
Enrollment: 27 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 2
States / cities: Chicago, Illinois • Baltimore, Maryland

Conditions: Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
Interventions: Not listed
Lead sponsor: University of Iowa; Other
Eligibility: 10 Years and older
Enrollment: 563 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2019
U.S. locations: 2
States / cities: Iowa City, Iowa • Rochester, New York

Conditions: Sickle Cell Disease, Sickle Cell Hemoglobin C, Sickle Beta Zero Thalassemia, Sickle B+ Thalassemia
Interventions: PROs assessment using sickle cell disease mobile app (SCD-app); Behavioral
Lead sponsor: Ann & Robert H Lurie Children's Hospital of Chicago; Other
Eligibility: 12 Years to 25 Years
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2019
U.S. locations: 1
States / cities: Chicago, Illinois

Conditions: Pre-Eclampsia, Pre-Term, Intrauterine Growth Restriction, Hypertension in Pregnancy
Interventions: Anti-inflammatory supplement; Dietary Supplement
Lead sponsor: University of South Carolina; Other
Eligibility: 18 Years to 45 Years · Female only
Enrollment: 9 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2022
U.S. locations: 1
States / cities: Columbia, South Carolina

Conditions: Huntington's Disease
Interventions: FuRST 2.0; Behavioral
Lead sponsor: CHDI Foundation, Inc.; Other
Eligibility: 18 Years and older
Enrollment: 75 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017
U.S. locations: 3
States / cities: Englewood, Colorado • Wichita, Kansas • New York, New York

Conditions: Prader-Willi Syndrome
Interventions: Interview; Other
Lead sponsor: Soleno Therapeutics, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 59 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2021
U.S. locations: 1
States / cities: Plymouth, Massachusetts

Conditions: Sepsis, Septicemia, Sepsis Syndrome, Shock, Septic, Community Acquired Pneumonia
Interventions: Not listed
Lead sponsor: National Center for Genome Resources; Other
Eligibility: 6 Years and older
Enrollment: 1,200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2010
U.S. locations: 3
States / cities: Detroit, Michigan • Durham, North Carolina

Conditions: LGMD1B, LGMD1C, LGMD1D, LGMD1E, LGMD1F, LGMD1G, LGMD1H, LGMD2A, LGMD2B, LGMD2C, LGMD2D, LGMD2E, LGMD2F, LGMD2G, LGMD2I, LGMD2J, LGMD2K, LGMD2L, LGMD2M, LGMD2N, LGMD2O, LGMD2P, LGMD2Q, LGMD2S, LGMD2T, LGMD2U, LGMD2W, LGMD2X, LGMD2Y
Interventions: Not listed
Lead sponsor: Virginia Commonwealth University; Other
Eligibility: 6 Years to 50 Years
Enrollment: 1,000 participants
Timeline: 2023 – 2029
U.S. locations: 1
States / cities: Richmond, Virginia

Conditions: Klinefelter Syndrome
Interventions: androgen oxandrolone, placebo; Drug · Other
Lead sponsor: Thomas Jefferson University; Other
Eligibility: 4 Years to 12 Years · Male only
Enrollment: 93 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2006 – 2017
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Hereditary Hemorrhagic Telangiectasia, Epistaxis, Anemia, Nosebleed, HHT
Interventions: Pazopanib, Placebo oral capsule; Drug
Lead sponsor: Cure HHT; Other
Eligibility: 18 Years to 85 Years
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 11
States / cities: Los Angeles, California • Denver, Colorado • Augusta, Georgia + 8 more

Conditions: Hemophilia A
Interventions: Factor VIII; Biological
Lead sponsor: Baxalta now part of Shire; Industry
Eligibility: 5 Years to 65 Years
Enrollment: 44 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016
U.S. locations: 2
States / cities: Peoria, Illinois • Portland, Oregon

Conditions: Cortical Dysplasia
Interventions: Classical ketogenic diet; Dietary Supplement
Lead sponsor: University College, London; Other
Eligibility: 3 Years to 15 Years
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2014 – 2017
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Congenital Diaphragmatic Hernia
Interventions: Fetal Treatment arm (FETO Group); Device
Lead sponsor: The University of Texas Health Science Center, Houston; Other
Eligibility: 18 Years and older · Female only
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2031
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
Interventions: Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function; Other
Lead sponsor: Dufresne, Craig, MD, PC; Other
Eligibility: Not listed
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Fairfax, Virginia

Conditions: Acute Undifferentiated Leukemia, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12), Adult Acute Myeloid Leukemia With t(16;16)(p13;q22), Adult Acute Myeloid Leukemia With t(8;21)(q22;q22), Mast Cell Leukemia, Myeloid/NK-cell Acute Leukemia, Untreated Adult Acute Lymphoblastic Leukemia, Untreated Adult Acute Myeloid Leukemia
Interventions: bioelectric impedance analysis; Procedure
Lead sponsor: Wake Forest University Health Sciences; Other
Eligibility: Not listed
Enrollment: 102 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2020
U.S. locations: 1
States / cities: Winston-Salem, North Carolina

Conditions: Retinitis Pigmentosa, Eye Diseases, Hereditary, Retinal Dystrophies, Retinal Dystrophy Rod, Retinal Dystrophy Rod Progressive
Interventions: Not listed
Lead sponsor: PYC Therapeutics; Industry
Eligibility: 10 Years and older
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2026
U.S. locations: 5
States / cities: San Francisco, California • Jacksonville, Florida • Ann Arbor, Michigan + 2 more

Conditions: Hypoxic-Ischemic Encephalopathy, Neonatal Encephalopathy, Encephalopathy
Interventions: Visual Evoked Potential (VEP), Electroretinogram (ERG); Device
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: Up to 36 Months
Enrollment: 125 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2029
U.S. locations: 1
States / cities: Madison, Wisconsin

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Elastography as Gouty Arthropathy Outcome (EGO)

RESULT: Reliable, Emergent Solution Using Liprotamase Treatment

A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes

Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia

Prospective Registry for Long-term Outcomes Following FETO in Severe Left and Right CDH

Mitochondrial Video Assessment Source Material Study

The Registry of Oncology Outcomes Associated With Testing and Treatment

Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)

Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

Home-based Assessment of PRO Measures in SCD Using A Smartphone App Platform: A Feasibility Study

Vascular Inflammation and Anti-inflammatory Supplements After Adverse Pregnancy Outcomes

FuRST 2.0 Cognitive Pre-Testing

PWS Outcomes Assessment Study

Observational Study of Sepsis and Pneumonia to Develop Diagnostic Tests

Long-Term Development of Muscular Dystrophy Outcome Assessments

Androgen Effect on Klinefelter Syndrome Motor Outcome

Effects of Pazopanib on Hereditary Hemorrhagic Telangiectasia Related Epistaxis and Anemia (Paz)

GAS-Hem Feasibility Study

Evaluating Dietary Intervention Before surgicaL Treatment for Epilepsy

North American Fetal Therapy Network for Long-term Outcome Following Fetoscopic Endoluminal Tracheal Occlusion in Severe Left and Right Congenital Diaphragmatic Hernia

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

Bioelectrical Impedance Measurement for Predicting Treatment Outcome in Patients With Newly Diagnosed Acute Leukemia

Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

Healthy Little Eyes