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Conditions: Ataxia Telangiectasia
Interventions: IB1001; Drug
Lead sponsor: IntraBio Inc; Industry
Eligibility: 6 Years and older
Enrollment: 17 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2025
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Adult Acute Myeloid Leukemia in Remission, 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), Childhood Acute Myeloid Leukemia in Remission, Childhood Myelodysplastic Syndromes, Fanconi Anemia, Previously Treated Myelodysplastic Syndromes
Interventions: fludarabine phosphate, cyclosporine, total-body irradiation, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, peripheral blood stem cell transplantation, mycophenolate mofetil; Drug · Radiation · Procedure
Lead sponsor: Fred Hutchinson Cancer Center; Other
Eligibility: Not listed
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 5
States / cities: Chicago, Illinois • Indianapolis, Indiana • Nashville, Tennessee + 2 more

Conditions: Lynch Syndrome, FAP, Hereditary Diffuse Gastric Cancer, Juvenile Polyposis Syndrome, Peutz-Jeghers Syndrome
Interventions: Research Registry; Other
Lead sponsor: University of Pittsburgh; Other
Eligibility: 8 Years to 100 Years
Enrollment: 114 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2018
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions: Family Centered pediatric palliative care for family caregivers of children with rare diseases.; Behavioral
Lead sponsor: Children's National Research Institute; Other
Eligibility: 12 Months to 99 Years
Enrollment: 480 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025 – 2029
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Diffuse Astrocytoma, IDH-Mutant, Glioblastoma, IDH-wildtype, Brain Metastases, Adult, Cervical Cancer, Colorectal Cancer, Esophageal Cancer, Esophageal Squamous Cell Carcinoma, Gastric Cancer, Gastroesophageal Junction Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Melanoma, Merkel Cell Carcinoma, Microsatellite Instability-High Solid Malignant Tumor, Mismatch Repair Deficient Solid Malignant Tumor, Microsatellite Instability-High Colorectal Cancer, Mismatch Repair Deficient Colorectal Cancer, Non-small Cell Lung Cancer, Renal Cell Carcinoma, Small Cell Lung Cancer, Squamous Cell Carcinoma, Urothelial Carcinoma
Interventions: NEO212 Oral Capsule, Ipilimumab, Pembrolizumab, Nivolumab, Regorafenib, Carboplatin, Paclitaxel, FOLFIRI Protocol, Bevacizumab; Drug
Lead sponsor: Neonc Technologies, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 134 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 7
States / cities: Beverly Hills, California • Glendale, California • Los Angeles, California + 4 more

Conditions: Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies, Genetic Inborn Errors of Metabolism, Fanconi's Anemia, Thalassemia, Sickle Cell Disease
Interventions: Melphalan; Drug
Lead sponsor: University of California, San Francisco; Other
Eligibility: Up to 17 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2021
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Fanconi Anemia
Interventions: JSP191, CliniMACS Prodigy System, Depleted Stem Cell Transplant, Rabbit Anti-Thymoglobulin (rATG), Cyclophosphamide, Fludarabine, Rituximab; Drug · Device · Biological
Lead sponsor: Porteus, Matthew, MD; Other
Eligibility: 2 Years and older
Enrollment: 18 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2028
U.S. locations: 1
States / cities: Stanford, California

Conditions: BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Neoplastic Syndrome, Lynch Syndrome
Interventions: Discussion, Internet-Based Intervention, Survey Administration, Telephone-Based Intervention; Other · Behavioral
Lead sponsor: University of Michigan Rogel Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 150 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2026 – 2028
U.S. locations: 1
States / cities: Ann Arbor, Michigan

Conditions: Fanconi's Anemia
Interventions: anti-thymocyte globulin, cyclophosphamide, cyclosporine, filgrastim, fludarabine, methylprednisolone; Drug
Lead sponsor: University of Minnesota; Other
Eligibility: 0 Years to 34 Years
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Minneapolis, Minnesota

Conditions: Non-Small Cell Lung Cancer, Small Cell Lung Cancer, Urothelial Carcinoma, Head and Neck Squamous Cell Carcinoma, Merkel Cell Carcinoma, Melanoma, Renal Cell Carcinoma, Gastric Cancer, Cervical Cancer, Hepatocellular Carcinoma, Microsatellite Instability, Mismatch Repair Deficiency, Colorectal Cancer
Interventions: N-803 + Pembrolizumab, N-803 + Nivolumab, N-803 + Atezolizumab, N-803 + Avelumab, N-803 + Durvalumab, N-803 + Pembrolizumab + PD-L1 t-haNK, N-803 + Nivolumab + PD-L1 t-haNK, N-803 + Atezolizumab + PD-L1 t-haNK, N-803 + Avelumab + PD-L1 t-haNK, N-803 + Durvalumab + PD-L1 t-haNK, N-803 + Docetaxel + Pembrolizumab, N-803 + Docetaxel + Nivolumab; Drug
Lead sponsor: ImmunityBio, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2030
U.S. locations: 35
States / cities: Anchorage, Alaska • Hot Springs, Arkansas • El Segundo, California + 31 more

Conditions: Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies, Genetic Inborn Errors of Metabolism, Fanconi Anemia, Thalassemia, Sickle Cell Disease
Interventions: Fludarabine; Drug
Lead sponsor: University of California, San Francisco; Other
Eligibility: Up to 17 Years
Enrollment: 67 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2016
U.S. locations: 1
States / cities: San Francisco, California

Conditions: Hormone-Resistant Prostate Cancer, Metastatic Prostate Carcinoma, Recurrent Prostate Carcinoma, Stage IV Prostate Cancer
Interventions: Carboplatin, Docetaxel; Drug
Lead sponsor: Seattle Institute for Biomedical and Clinical Research; Other
Eligibility: 18 Years and older · Male only
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2021
U.S. locations: 3
States / cities: Los Angeles, California • Ann Arbor, Michigan • Seattle, Washington

Conditions: Advanced Solid Tumors
Interventions: Elimusertib (BAY1895344), Pembrolizumab (Keytruda®); Drug
Lead sponsor: Bayer; Industry
Eligibility: 18 Years and older
Enrollment: 56 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 8
States / cities: Palo Alto, California • New Haven, Connecticut • Baltimore, Maryland + 5 more

Conditions: Severe Combined Immunodeficiency (SCID), Leaky SCID, Omenn Syndrome, Reticular Dysgenesis, ADA SCID, XSCID
Interventions: Not listed
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: Not listed
Enrollment: 690 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2028
U.S. locations: 39
States / cities: Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 34 more

Conditions: Fanconi Anemia
Interventions: Cyclophosphamide, Fludarabine, Total body irradiation (TBI); Drug · Radiation
Lead sponsor: Memorial Sloan Kettering Cancer Center; Other
Eligibility: Not listed
Enrollment: 21 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2001 – 2013
U.S. locations: 1
States / cities: New York, New York

Conditions: Fanconi's Anemia
Interventions: amifostine; Drug
Lead sponsor: Dana-Farber Cancer Institute; Other
Eligibility: 2 Years and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2000
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Fanconi Anemia
Interventions: Time-Restricted Feeding; Behavioral
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 12 Years and older
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2023
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Cervical Cancer, Gastric Cancer, Stomach Cancer, Gastroesophageal Junction Cancer, Esophageal Cancer, Hepatocellular Carcinoma, Melanoma, Uveal Melanoma, Merkel Cell Carcinoma, Mesothelioma, MSI, Non-small Cell Lung Cancer, NSCLC, Ovarian Cancer, Squamous Cell Carcinoma of the Head and Neck, Small Cell Lung Cancer, Renal Cell Carcinoma, RCC, Triple-negative Breast Cancer, Urothelial Carcinoma, Mismatch Repair Deficiency
Interventions: INCAGN02390; Drug
Lead sponsor: Incyte Corporation; Industry
Eligibility: 18 Years and older
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 4
States / cities: Los Angeles, California • Jackson, Mississippi • Hackensack, New Jersey + 1 more

Conditions: Non-Small Cell Lung Cancer, Malignant Melanoma, Head and Neck Squamous Cell Carcinoma, Classical Hodgkin Lymphoma, Urothelial Carcinoma Bladder, DNA Repair-Deficiency Disorders
Interventions: L-NMMA, Pembrolizumab; Drug
Lead sponsor: The Methodist Hospital Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2022
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Lynch Syndrome
Interventions: questionnaires, telephone interview, optional blood drawn, questionnaires, telephone interview and optional blood drawn; Behavioral
Lead sponsor: Memorial Sloan Kettering Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 1,530 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2026
U.S. locations: 8
States / cities: Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 5 more

Conditions: Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
Interventions: Not listed
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: Not listed
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2012
U.S. locations: 2
States / cities: Bethesda, Maryland

Conditions: Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome, Inherited Bone Marrow Failure Syndrome, Aplastic Anemia
Interventions: Not listed
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: 1 Day to 100 Years
Enrollment: 4,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2001
U.S. locations: 2
States / cities: Bethesda, Maryland • Rockville, Maryland

Conditions: Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas, Genetic Pancreatic Cancer, Genetic Pancreatitis, BRCA Mutation, Lynch Syndrome, FAP, Familial Atypical Multiple Mole-Melanoma, PALB2 Gene Mutation, Peutz-Jeghers Syndrome, Ataxia Telangiectasia
Interventions: Data collection; Other
Lead sponsor: H. Lee Moffitt Cancer Center and Research Institute; Other
Eligibility: 18 Years and older
Enrollment: 317 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2026
U.S. locations: 1
States / cities: Tampa, Florida

Conditions: Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome, STAT 1 Gain of Function, STAT 3 Gain of Function, Hypomorphic RAG1 Deficiency, CD40 Ligand Deficiency, Mendelian Susceptibility to Mycobacterial Disease, GATA2 Associated Immunodeficiency, CD40 Deficiency, Hypomorphic RAG2 Deficiency, Immune Dysregulation Polyendocrinopathy Enteropathy X-Linked Syndrome, Omenn Syndrome, Chronic Granulomatous Disease
Interventions: Hematopoietic stem cell transplant (HSCT); Biological
Lead sponsor: Paul Szabolcs; Other
Eligibility: 5 Years to 40 Years
Enrollment: 25 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2031
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

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N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia

Hereditary Colorectal and Associated Tumor Registry Study

Palliative Care Needs of Children With Rare Diseases and Their Families

Safety and Efficacy of NEO212 in Patients With Astrocytoma IDH-mutant, Glioblastoma IDH-wildtype or Brain Metastasis

Study of Melphalan Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients

Depleted Donor Stem Cell Transplant in Children and Adults With Fanconi Anemia After Being Conditioned With a Regimen Containing Briquilimab

A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families

Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia

QUILT-3.055: A Study of Combination Immunotherapies in Patients Who Have Previously Received Treatment With Immune Checkpoint Inhibitors

Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation

Docetaxel and Carboplatin for Patients With mCRPC and DNA-Repair Deficiencies

Study to Test How Well Patients With Advanced Solid Tumors Respond to Treatment With the Elimusertib in Combination With Pembrolizumab, to Find the Optimal Dose for Patients, How the Drug is Tolerated and the Way the Body Absorbs, Distributes and Discharges the Drug

Natural History Study of SCID Disorders

Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine

Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia

Time-restricted Feeding to Reduce Inflammation in Fanconi Anemia

A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies

Phase Ib of L-NMMA and Pembrolizumab

Multi-Organ Screening Recommendations in Patients With Lynch Syndrome

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Cancer in Inherited Bone Marrow Failure Syndromes

The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics

Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)