| Genetic Diseases, Inborn |
SANO, NCT02705651: Non-functioning Pancreatic Neuroendocrine Tumors in MEN1: Somatostatin Analogs Versus NO Treatment |
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| Not yet recruiting | 3 | 180 | NA | Somatostatin-Analog | Medical University of Vienna | Pancreatic Neuroendocrine Tumors in MEN1 | 10/23 | 10/24 | | |
| Not yet recruiting | 3 | 1800 | RoW | Aspirin, acetylsalicylic acid | Tel-Aviv Sourasky Medical Center, Rambam Health Care Campus, Rabin Medical Center, Soroka University Medical Center, Sheba Academic Medical Center Hospital | Lynch Syndrome I (Site-specific Colonic Cancer) | 09/27 | 09/27 | | |
NCT00850317: Fanconi Anemia Transplant Lacking Genotypically Identical Donor |
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| Not yet recruiting | 2 | 25 | US | Miltenyi CliniMACs device | Children's Hospital Boston, Dana-Farber Cancer Institute | Fanconi Anemia | 04/12 | | | |
NCT02258243: Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome |
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| Active, not recruiting | 2 | 3 | US | aminolevulinic acid hydrochloride, 5-ALA HCl, ALA HCl, aminolevulinic acid HCl, photodynamic therapy, Light Infusion Therapy™, PDT, therapy, photodynamic, laboratory biomarker analysis, questionnaire administration | Case Comprehensive Cancer Center, National Cancer Institute (NCI) | Basal Cell Carcinoma of the Skin, Nevoid Basal Cell Carcinoma Syndrome | 10/16 | 12/17 | | |
tDCS/PES_SCD, NCT02813629: tDCS Associated With Peripheral Electrical Stimulation for Pain Control in Individuals With Sickle Cell Disease |
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| Recruiting | 2 | 120 | RoW | tDCS plus PES, transcranial direct current stimulation (tDCS), peripheral electrical stimulation (PES) | Faculdade Adventista da Bahia, Federal University of Bahia | Anemia, Sickle Cell, Chronic Pain | 12/22 | 12/22 | | |
NCT02670889: Urease Inhibitor Drug Treatment for Urea Cycle Disorders |
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| Not yet recruiting | 1/2 | 16 | US | Acetohydroxamic Acid, Lithostat, AHA, Isotopic Intravenous [13C]-Urea | Nicholas Ah Mew, Data Management and Coordinating Center (DMCC), Children's Hospital of Philadelphia | Ornithine Transcarbamylase Deficiency, Argininosuccinate Synthetase Deficiency (Citrullinemia), Argininosuccinic Acid Lyase Deficiency (Argininosuccinic Aciduria), Carbamyl-Phosphate Synthase I Deficiency | 03/18 | 03/19 | | |
NCT02465749: Clinical Trials of Continuous Oxygen Therapy Combined With Blue Light Deprivation in the Treatment of Retinitis Pigmentosa |
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| Not yet recruiting | 1 | 404 | RoW | Continuous oxygen, blue light-absorbing sunglasses, Compound thrombosis capsule sig: 1.5g/tid, Ginkgo biloba pills sig: 300mg/tid;, Vitamin B sig: 10mg/tid, Vitamin AD sig: 1 tablet/tid | Sun Yat-sen University, Zhujiang Hospital, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, Guangzhou Jeeyor Medical Research Co.,Ltd. | Retinitis Pigmentosa | 06/25 | 06/25 | | |
| Active, not recruiting | N/A | 200 | US | | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | Autosomal Recessive Polycystic Kidney Disease | | 11/10 | | |
NCT01701947: HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency |
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| No Longer Available | N/A | | US | Hemoleven, Human Coagulation Factor XI | Laboratoire français de Fractionnement et de Biotechnologies | Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery | | | | |
NCT01995305: Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents |
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| Available | N/A | | RoW | human whole exome, whole genomic, whole exome | Xiaofan Zhu | Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance. | | | | |
NCT02300753: Emergency Administration of EPI-743 to a Single Patient With Leber's Hereditary Optic Neuropathy [LHON] |
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| No Longer Available | N/A | | US | EPI-743, Vincerinone (TM), Vatiquinone | Edison Pharmaceuticals Inc | Leber's Hereditary Optic Neuropathy | | | | |
NCT02376751: An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency |
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| No Longer Available | N/A | | US | sebelipase alfa, SBC-102, recombinant human lysosomal acid lipase, rhLAL | Alexion Pharmaceuticals | Lysosomal Acid Lipase Deficiency | | | | |
NCT02097251: An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient |
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| No Longer Available | N/A | | US | UX003, recombinant human beta glucuronidase, rhGUS | Joyce Fox, Ultragenyx Pharmaceutical Inc | Mucopolysaccharidosis Type 7 | | | | |
| No Longer Available | N/A | | US | CliniMACs | University of Miami, Jackson Health System | x Linked Combined Immunodeficiency | | | | |
| No Longer Available | N/A | | Japan, US, Europe, RoW | Drisapersen, PRO051 | BioMarin Pharmaceutical | Duchenne Muscular Dystrophy | | | | |
NCT02233257: Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy |
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| No Longer Available | N/A | | US | Lorenzo's Oil, Glyceryl trierucate | University of Minnesota | X-linked Adrenoleukodystrophy | | | | |
NCT00962260: Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease |
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| No Longer Available | N/A | | US, RoW | Plant cell expressed recombinant glucocerebrosidase (prGCD), taliglucerase alfa | Pfizer | Gaucher Disease | | | | |
| No Longer Available | N/A | | US | Triheptanoin, C7 oil, Heptanoate, heptanoic acid | Juan Pascual | Glut1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome | | | | |
| Recruiting | N/A | 750 | US | | Cystinosis Research Foundation | Cystinosis, Nephropathic Cystinosis, Renal Fanconi Syndrome | 12/20 | 12/22 | | |
NCT00138931: Genetics of Cardiovascular and Neuromuscular Disease |
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| Recruiting | N/A | 2000 | US | Blood draw (genetic testing) | University of Chicago | Cardiomyopathy, Arrhythmia, Muscular Dystrophy | 01/25 | 01/25 | | |
| Active, not recruiting | N/A | 10 | US, Europe | EDI200, APO200 | Edimer Pharmaceuticals | X-linked Hypohidrotic Ectodermal Dysplasia | 03/25 | 03/25 | | |
NCT02014961: Worm Study: Modifier Genes in Sudden Cardiac Death |
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| Recruiting | N/A | 223 | Europe | Dermal biopsy, Gastro-intestinal questionnaire, Whole-exome sequencing | Maastricht University Medical Center, Netherlands Heart Foundation | Brugada Syndrome, Long QT Syndrome 3 | 04/25 | 04/25 | | |
| Terminated | N/A | 7 | RoW | | Sheba Medical Center | Familial Mediterranean Fever, Heat Intolerance, Heat Tolerance Test | 08/12 | 03/24 | | |
NCT02399748: A Long-term Study for the Outcome of Pompe Disease |
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| Recruiting | N/A | 50 | RoW | | National Taiwan University Hospital | Pompe Disease | 12/26 | 12/26 | | |
NCT02704455: Registry Study on Primary Ciliary Dyskinesia in Chinese Children |
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| Not yet recruiting | N/A | 100 | RoW | | Beijing Children's Hospital, Shengjing Hospital, Capital Institute of Pediatrics, China, Shanghai Children's Medical Center, Shenzhen Children's Hospital, The First Affiliated Hospital of Xiamen University, First Affiliated Hospital of Guangxi Medical University | Primary Ciliary Dyskinesia | 05/30 | 07/30 | | |
NCT02753374: Registry Study on Cystic Fibrosis in Chinese Children |
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| Not yet recruiting | N/A | 100 | RoW | | Beijing Children's Hospital, Shengjing Hospital, Capital Institute of Pediatrics, China, Shanghai Children's Medical Center, Shenzhen Children's Hospital, The First Affiliated Hospital of Xiamen University, First Affiliated Hospital of Guangxi Medical University | Cystic Fibrosis | 05/30 | 07/30 | | |
| Recruiting | N/A | 2000 | US | | Pachyonychia Congenita Project | Pachyonychia Congenita | 12/30 | 12/30 | | |
| Recruiting | N/A | 400 | Europe | | Ataxia Study Group | Spinocerebellar Ataxia | 07/50 | 07/50 | | |
NCT01445275: Cost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199 |
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| Not yet recruiting | N/A | 2605 | US | Evaluation of Cancer Risk Factors, cancer risk factors evaluation, Medical Chart Review, Chart Review, Study of Socioeconomic and Demographic Variables | Gynecologic Oncology Group, National Cancer Institute (NCI) | Fallopian Tube Carcinoma, Hereditary Breast and Ovarian Cancer Syndrome, Ovarian Carcinoma, Primary Peritoneal Carcinoma | 01/00 | | | |
NCT01199250: Biomarkers in Samples From Patients With Endometrial Cancer |
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| Not yet recruiting | N/A | 3600 | US | Laboratory Biomarker Analysis | Gynecologic Oncology Group, National Cancer Institute (NCI) | Lynch Syndrome, Recurrent Uterine Corpus Carcinoma, Stage I Uterine Corpus Cancer, Stage II Uterine Corpus Cancer, Stage III Uterine Corpus Cancer, Stage IV Uterine Corpus Cancer | 01/00 | | | |