| Recruiting | Observational Study of Advanced Data Analytics in Genetic Conditions Genetic Conditions | — | 2026-04-22 |
| Recruiting | Genetic Analysis of Uncommon Disease Presentations in Non-US Populations Undiagnosed Diseases, Rare Diseases | — | 2026-04-22 |
| Recruiting | Deciphering the Genetic Architecture of Autoimmune Diseases Autoimmune Diseases | — | 2026-04-22 |
| Recruiting | An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Primary Focal Segmental Glomer Focal Segmental Glomerulosclerosis | Phase 2 | 2026-04-22 |
| Recruiting | Cybersickness Prevention and Mitigation in Virtual Reality for Healthy Volunteers Healthy Volunteers, Virtual Reality | N/A | 2025-09-26 |
| Recruiting | Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individua Sickle Cell Disease | — | 2025-06-24 |
| Recruiting | Childhood-Onset Essential Hypertension Natural History Study Hypertension, Essential Hypertension | — | 2025-05-30 |
| Completed | Care Choreographies and the Making of the Psychosocial in Genetic Counseling Genetic Counselor | — | 2024-02-26 |
| Recruiting | A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary De AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency | — | 2023-12-19 |
| Completed | Genomics, Environmental Factors and Social Determinants of Cardiovascular Disease in African-Americans Study ( Heart Disease | — | 2023-02-18 |
| Completed | Genetic and Social Network Correlates of Rheumatoid Arthritis Outcomes in Hispanic Populations: A Prospective Rheumatoid Arthritis | — | 2022-11-21 |
| Recruiting | Caregiving Networks Across Disease Context and the Life Course Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease | — | 2022-09-08 |
| Recruiting | MK-7075 (Miransertib) in Proteus Syndrome Proteus Syndrome | Phase 2 | 2022-05-20 |
| Recruiting | Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity Mitochondrial Disease | — | 2020-10-21 |
| Completed | Living With Sickle Cell Disease in the COVID-19 Pandemic Isolation, Anxiety, Health Care Utilization | — | 2020-06-15 |
| Completed | Genetics of COVID-19 Susceptibility and Manifestations COVID-19, Coronavirus 2019 | — | 2020-05-05 |
| Enrolling By Invitation | Reverse Phenotyping Core Harboring of Unexpected Genetic Variant | — | 2020-01-23 |
| Recruiting | IDENTIFY Study: Natural History of Maternal Neoplasia Maternal Neoplasia | N/A | 2019-12-23 |
| Completed | New Approaches for Empowering Studies of Asthma in Populations of African Descent Asthma | — | 2019-09-23 |
| Recruiting | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type Lysosomal Diseases, Gangliosidosis, GM1 | Phase 1 / Phase 2 | 2019-08-19 |
| Completed | Mapping Institutional Identities and the Production of Ethics IRB Decision Making | — | 2019-05-30 |
| Recruiting | Longitudinal Studies of Patient With FPDMM Inherited Hematological Diseases, Rare Diseases, FPDMM | — | 2019-03-28 |
| Completed | Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequ Undiagnosed Disease | — | 2018-08-13 |
| Completed | Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphate Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2 | — | 2018-04-17 |
| Completed | Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Breast Cancer | N/A | 2017-08-15 |
| Completed | Pregnant Women s Views About the Ethics of Prenatal Whole Genome Sequencing Pregnant | — | 2017-06-15 |
| Completed | Examining the Knowledge, Attitudes, and Beliefs of Sickle Cell Disease Patients, Parents of Patients With Sick Sickle Cell Disease | — | 2017-04-28 |
| Recruiting | Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Metabolic Disease, Propionic Acidemia, Organic Acidemia | — | 2016-11-29 |
| Completed | Where Culture Meets Genetics: Exploring Latinas Causal Attributions of Breast and Colon Cancer and Models of D Colon Cancer, Breast Cancer | — | 2016-05-10 |
| Withdrawn | Suitability of Some Data Quality Controls Thresholds for Genetic Association Studies of Admixed Population African American Genetics | — | 2016-05-05 |
| Completed | New Technology and Child Health Healthy Volunteers | N/A | 2016-01-15 |
| Completed | Dose Finding Trial of MK-7075 in Children and Adults With Proteus Syndrome Proteus Syndrome | Phase 1 | 2015-11-16 |
| Recruiting | Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Net Genetic Disease | — | 2015-09-16 |
| Completed | Are Genetic Counselors Screening for Adolescent Suicide Risk? Healthy Volunteers | — | 2015-06-22 |
| Completed | Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics | Phase 2 | 2015-04-23 |
| Completed | An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy GNE Myopathy | Phase 2 | 2015-02-05 |
| Completed | Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Inborn Errors of Metabolism, Pregnancy, Acidemias | — | 2014-12-19 |
| Completed | Dabrafenib and Trametinib in People With BRAF V600E Mutation Positive Lesions in Erdheim Chester Disease BRAF V600E Mutation | Phase 2 | 2014-11-01 |
| Recruiting | Genomic Services Research Program Colon Cancer, Breast Cancer | — | 2014-09-16 |
| Completed | Physicians' Experiences With and Attitudes Toward Non-Medical Sex Selection Through Preimplantation Genetic Di Genetics, Attitudes | — | 2014-08-23 |
| Completed | Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children Stress | — | 2014-07-06 |
| Completed | Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Genetic Disease, Genomics | — | 2014-06-16 |
| Completed | Study on Moebius Syndrome and Congenital Facial Weakness Disorders Brain Disorders, Birth Defects, Craniofacial Differences | — | 2014-05-20 |
| Completed | The Genetic Basis of Acquired Heart Disease in Africa Rheumatic Heart Disease, Rheumatic Fever, Endomyocardial Fibrosis | — | 2014-04-03 |
| Withdrawn | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Cystinosis, Myopathy | Phase 1 / Phase 2 | 2014-03-26 |
| Recruiting | Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Congenital Disorders of Glycosylation | — | 2014-03-07 |
| Completed | A Study of Consent Forms for Whole Exome and Whole Genome Sequencing Whole Genome Sequencing | — | 2013-12-16 |
| Completed | Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Adenosine Deaminase Deficiency, ADA-SCID | Phase 1 | 2013-12-16 |
| Completed | Black Family Eating Behaviors Study Cancer, Obesity | — | 2013-12-14 |
| Completed | Participation in a Research Registry for Immune Disorders Primary Immunodeficiencies, APECED, CGD | — | 2013-09-30 |
| Completed | The Genetic Basis of Congenital Heart Disease in Africa Congenital Heart Disease, Heart Disease | — | 2013-09-17 |
| Terminated | Genetic and Other Aspects of Podoconiosis Podoconiosis | — | 2013-08-20 |
| Completed | Patient Perspectives and Doctor Visits Body Weight | — | 2013-07-05 |
| Completed | The Role of Uncertainty in Coping: The Experience of Parents of Children With Undiagnosed Medical Conditions Undiagnosed Disease | — | 2013-06-12 |
| Completed | Adaptation to Living With a BRCA1/2 Mutation Cancer Genetics | — | 2013-05-02 |
| Terminated | Genetic Studies of Non-Alcoholic Fatty Liver Disease Non-Alcoholic Steato-Hepatitis, Liver Cirrhosis, Non-Alcoholic Fatty Liver Disease | — | 2013-04-23 |
| Recruiting | The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders | — | 2012-12-31 |
| Completed | Effect of Lung Cancer Diagnoses on Family Behaviors Lung Cancer, Blood Relatives of Patient w/Lung Cancer, Cigarette Smokers | — | 2012-12-18 |
| Completed | Genetic, Brain Structure, and Environmental Effects on ADHD Attention Deficit Disorder With Hyperactivity | — | 2012-11-09 |
| Completed | Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM) Hereditary Inclusion Body Myopathy (HIBM), GNE Myopathy | Phase 1 | 2012-09-11 |
| Completed | EPI-743 for Metabolism or Mitochondrial Disorders Mitochondrial Disease, Neurology, Myopathy | Phase 1 / Phase 2 | 2012-09-01 |
| Completed | The Clinical Study of Sex Chromosome Variants Male Factor Infertility, Female Factor Infertility | — | 2012-07-30 |
| Completed | Developing the Family Map: Looking at Communal Coping Sickle Cell, Diabetes, Cancer | — | 2012-07-05 |
| Terminated | Living With Frontotemporal Dementia Adaptation | — | 2012-06-13 |
| Completed | Testing Spanish-language Genetic Literacy Genetic Literacy | — | 2012-05-24 |
| Completed | Uncertain Genetic Test Results for Lynch Syndrome HNPCC | — | 2012-04-25 |
| Completed | Weight Management Interactions in a Virtual Clinical Environment Healthy Volunteers, Body Weight | — | 2012-02-29 |
| Completed | Inherited Diseases, Caregiving, and Social Networks Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders | — | 2012-01-09 |
| Completed | Family Genetics Health Education and Healthy Behaviors Diabetes, Cancer, Heart Disease | — | 2012-01-03 |
| Completed | A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases GNE Myopathy, GNE Related Diseases | — | 2011-09-14 |
| Terminated | The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia | — | 2011-08-08 |
| Completed | Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis | — | 2011-08-01 |
| Terminated | The Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystr Genetic Disease, Communication | — | 2011-06-07 |
| Terminated | Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African Americans Ovarian Neoplasm, Cancer Genetics, Breast Cancer | — | 2011-06-07 |
| Completed | Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Coronary Artery Disease, Proteus Syndrome, Coffin - Sins Syndrome | — | 2011-05-29 |
| Enrolling By Invitation | Genetics of Obesity, Diabetes, and Heart Disease in African Diaspora Populations Diabetes, Cardiovascular Disease | — | 2011-05-06 |
| Completed | Personalized Genomic Research Genetics, Genetic Disease, Genetic Linkage | — | 2011-01-24 |
| Completed | Mothers' Thoughts About Kids and Eating Overweight | N/A | 2010-11-19 |
| Withdrawn | Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their ADA-SCID | — | 2010-08-05 |
| Completed | The PTC124 (Ataluren) Clinical Trial for Duchenne Muscular Dystrophy: Exploration of the Experiences of Parent Duchenne Muscular Dystrophy | — | 2010-07-30 |
| Completed | The Role of Social Comparisons in Coping and Quality of Life Following a Prostate Cancer Diagnosis Prostate Cancer | — | 2010-07-19 |
| Completed | A Coping Effectiveness Training Intervention for Caregivers of Children With Autism Spectrum: A Feasibility St Autism Spectrum Disorders | N/A | 2010-07-05 |
| Completed | The Perceived Impact of Children s Risk Status for Hypertrophic Cardiomyopathy on Families: an Exploratory Stu Cardiovascular Disease | — | 2010-06-24 |
| Completed | Promoting Consistent Shoe Use Among Children At High Risk for Podoconiosis Podoconiosis, Non-Filarial Elephantiasis | — | 2010-06-14 |
| Completed | Perceptions of Thalassemia Major in Singapore: An Exploratory Study of Stigma Thalassemia Major | — | 2010-04-23 |
| Recruiting | Genome Medical Sequencing for Gene Discovery Intellectual Disabilities, Congenital Anomaly, Rare Disorders | — | 2010-02-18 |
| Completed | Parents With Bipolar Disorder: Relationship of Adaptation to Own Illness With Risk Perception and Coping With Bipolar Disorder | — | 2009-10-23 |
| Completed | The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition Multiple Abnormalities | — | 2009-08-04 |
| Completed | Reactions to Disease Risk Information Cancer | N/A | 2009-06-16 |
| Completed | The Roles of Trust and Respect in Patient Reactions to Race-based and Personalized Medicine Vignettes: An Expe Diabetes, Congenital Heart Disease, Hypertension | — | 2009-05-19 |
| Completed | Adaptation Among Adolescents and Adults With Klinefelter Syndrome Klinefelter Syndrome | — | 2009-05-05 |
| Completed | The Nosology and Etiology of Leukodystrophies of Unknown Causes Leukodystrophy, Leukoencephalopathy | — | 2009-04-24 |
| Completed | The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome Rett Syndrome | — | 2009-04-24 |
| Completed | Genetics of Type 2 Diabetes Among Han Chinese Diabetes, Hypertension | — | 2009-02-03 |
| Recruiting | Genetics of Type 2 Diabetes in West Africans Hypertension, Diabetes | — | 2009-02-03 |
| Completed | Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Oculocutaneous Albinism | — | 2008-12-11 |
| Completed | Clinical and Genetic Studies of VACTERL Association Congenital Abnormalities, Birth Defects, Congenital Defects | — | 2008-09-29 |
| Terminated | Cultural Congruence in International Genetics Research Cultural Diversity | — | 2008-09-24 |
| Completed | Use of Population Descriptors in Human Genetic Research Population Groups, Genetics, Medical, Ethnology | — | 2008-09-18 |
| Completed | A Study of the Genetic Analysis of Brain Disorders Holoprosencephaly | — | 2008-06-01 |
| Completed | Screening Behavior in Adults With Hereditary Hemorrhagic Telangiectasia Osler-Rendu-Weber Disease, Osler-Rendu Disease, Telangiectasia, Hereditary Hemorrhagic | — | 2008-05-21 |
| Completed | Adaptation and Quality of Life Among Adults With Neurofibromatosis Type I Neurofibromatosis Type 1, Von Recklinghausen Disease, NF1 | — | 2008-05-15 |
| Completed | The Experience of Caregivers of Children With Down Syndrome Down Syndrome | — | 2008-05-14 |
| Completed | Patient Provider Communication and Interaction in a Virtual Clinical Setting Healthy Volunteer | N/A | 2008-04-24 |
| Recruiting | Studies of Skin Microbes in Healthy People and in People With Skin Conditions Eczema, Atopic Dermatitis | — | 2008-01-22 |
| Completed | Making Sense of a Positive Genetic Test Result for Huntington Disease Huntington Disease | — | 2007-10-01 |
| Completed | Informed Choice Regarding Invasive Prenatal Testing Pregnancy - Prenatal Testing | — | 2007-08-07 |
| Completed | Treatment Strategies for Children With Smith-Magenis Syndrome Developmental Delay Disorders, Chromosome Deletion, Mental Retardation | Phase 1 | 2007-07-17 |
| Completed | Predictors of Caregiver Adaptation to Pervasive Developmental Disorders Autism, Asperger's Syndrome, Rett's Disorder | — | 2007-06-27 |
| Completed | Individuals Patterns of Disclosure About Huntington s Disease (HD) and the Association With Adaptation to HD Huntington's Disease | — | 2007-06-22 |
| Completed | African American Families and Lung Cancer Study Lung Cancer | — | 2007-06-11 |
| Completed | Disclosing a Cystic Fibrosis Diagnosis to a Dating Partner Cystic Fibrosis | — | 2007-06-05 |
| Completed | Risk Communication Within Mexican-American Families Breast Cancer, Diabetes, Colon Cancer | — | 2007-04-27 |
| Terminated | Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis, Oculocutaneous Albinism | Phase 1 / Phase 2 | 2007-04-01 |
| Completed | Interventions to Educate An Underserved Population About Inherited Disease Risks Healthy Volunteers | N/A | 2007-02-19 |
| Active Not Recruiting | ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study Healthy Volunteers, Atherosclerotic Heart Disease | — | 2007-01-05 |
| Completed | Genetic Counselors' Experiences of Moral Value Conflicts With Clients Moral Value Conflicts, Moral Distress, Genetic Counseling | — | 2006-06-01 |
| Completed | Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations Parkinson Disease, Gaucher Disease | — | 2006-05-23 |
| Completed | Patients' Perspectives on Identity, Ancestry and Genetics Family History | — | 2006-04-19 |
| Completed | Use of Virtual Reality to Communicate Concepts of Genomics to the General Public Healthy, Learning, Communication | — | 2006-04-14 |
| Completed | Invasive Prenatal Testing Decisions in Pregnancy After Infertility Pregnancy | — | 2006-03-29 |
| Completed | Experiences of Genetics Patients With Visible Abnormalities Who Facilitate Teaching in Genetics Clinics Learning | — | 2006-03-29 |
| Completed | Perspectives of Individuals With Bipolar Disorder and Siblings of Individuals With Bipolar Disorder; A Telepho Bipolar Disorder (BD), Bipolar | — | 2006-03-02 |
| Completed | Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer HNPCC, Hereditary Nonpolyposis Colon Cancer | — | 2005-09-28 |
| Completed | Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy Hereditary Inclusion Body Myopathy | Phase 1 | 2005-09-16 |
| Completed | Physicians' Understanding of Human Genetic Variation Genetics | — | 2005-07-11 |
| Completed | Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Craniofacial Differences | — | 2005-06-13 |
| Completed | Developing Newborn Screening for Infants With Primary Immunodeficiency Immune System Diseases | — | 2005-06-02 |
| Completed | Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Craniosynostosis, Muenke Syndrome | — | 2005-03-31 |
| Completed | Analysis of Data From the Women's Contraceptive and Reproductive Experiences (CARE) Study Breast Cancer | — | 2005-01-18 |
| Completed | Genetic Analysis of Craniosynostosis, Philadelphia Type Craniosynostosis, Philadelphia Type Craniosynostosis | — | 2005-01-05 |
| Completed | Genetic Analysis of Craniofrontonasal Syndrome Craniofrontonasal Syndrome, CFNS | — | 2005-01-05 |
| Completed | Long-Term Study of Nitisinone to Treat Alkaptonuria Alkaptonuria | Phase 2 | 2005-01-01 |
| Completed | Prevalence of Ambivalence Regarding Prenatal Testing Pregnancy | — | 2004-12-17 |
| Completed | Impact of Lung Cancer Diagnosis on Relatives' Understanding of Genetic Risk and Receptivity to Quit Smoking Lung Cancer | — | 2004-12-07 |
| Completed | Clinical Integration of Genetic Risk Assessment in Family Medicine Genomics | — | 2004-12-07 |
| Completed | Identification of Prostate Cancer Genes Prostate Cancer | — | 2004-11-08 |
| Completed | Clinical Studies of Progeria Progeria | — | 2004-10-14 |
| Completed | Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Blood Coagulation Disorders | — | 2004-06-29 |
| Active Not Recruiting | Analysis of Specimens From Individuals With Pulmonary Fibrosis Pulmonary Fibrosis, Healthy Volunteers, Hermansky-Pudlak Syndrome (HPS) | — | 2004-06-09 |
| Recruiting | Clinical and Laboratory Study of Methylmalonic Acidemia Organic Acidemia, Methylmalonic Acidemia, Inborn Errors of Metabolism | — | 2004-06-07 |
| Terminated | Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Bardet-Biedl Syndrome | — | 2004-02-17 |
| Completed | Genetic Studies in the Amish and Mennonites Genetic Disease | — | 2004-02-10 |
| Completed | Clinical and Genetic Studies on Holoprosencephaly Holoprosencephaly, HPE, Developmental Delay Disorders | — | 2004-01-23 |
| Completed | Cell Studies of Parkinson's Disease Parkinson Disease | — | 2004-01-14 |
| Completed | Influence of Genetics on Vitamin Metabolism in Pregnant Women Pregnancy, Birth Defects | — | 2003-12-16 |
| Completed | Genetic Studies of Inflammatory Bowel Disease Inflammatory Bowel Disease | — | 2003-11-06 |
| Completed | Immunogenetics of Visceral Leishmaniasis Visceral Leishmaniasis | — | 2003-10-20 |
| Completed | Genetic Analysis of Gray Platelet Syndrome Genetic Linkage, Myelofibrosis | — | 2003-09-29 |
| Completed | Genetic Epidemiology of Lung Cancer Lung Cancer | — | 2003-08-26 |
| Completed | The Value of Genetic Information to Adult Adopted Individuals Adoption, Genetic Counseling | — | 2003-04-01 |
| Completed | Clinical and Molecular Investigations Into Ciliopathies Ciliopathy | — | 2003-03-16 |
| Completed | Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling Friedreich Ataxia | — | 2003-03-01 |
| Completed | Family Studies of Eye Traits Cataracts, Glaucoma, Myopia | — | 2002-12-04 |
| Completed | Pilot Study of the Process of Prenatal Genetic Counseling Genetic Counseling | N/A | 2002-10-01 |
| Recruiting | Study of Chediak-Higashi Syndrome Chediak-Higashi Syndrome | — | 2002-09-10 |
| Completed | Family Myopia Study Myopia | — | 2002-04-29 |
| Completed | Genetic Analysis of Fraser Syndrome and Fryns Syndrome Fraser Syndrome, Fryns Syndrome, Chromosomal Abnormalities | — | 2002-04-01 |
| Completed | Exploratory Data Analysis for Disease Pedigrees and Cancer Genetics Data Analysis, Cancer Genetics | — | 2002-03-19 |
| Recruiting | Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders Neurological Regression, Myoclonus, Cherry Red Spot | — | 2002-02-06 |
| Completed | Analysis of Prostate Cancer Short-Term Cultures Using Molecular Cytogenetic Methods Prostate Cancer | — | 2001-08-01 |
| Completed | Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Defi Severe Combined Immunodeficiency Syndrome | Phase 1 | 2001-06-20 |
| Active Not Recruiting | Natural History Study of Smith-Magenis Syndrome Smith-Magenis Syndrome (SMS) | — | 2001-03-19 |
| Completed | Molecular Analysis of Microphthalmia/Anophthalmia Anophthalmos | — | 2001-02-22 |
| Completed | Genetic Analysis of Oculocerebrorenal Syndrome of Lowe Lowe Syndrome | — | 2001-02-17 |
| Completed | Genetic Analysis of Familial Brain Aneurysms Intracranial Aneurysm | — | 2001-02-01 |
| Unknown | Molecular and Clinical Studies of Primary Immunodeficiency Diseases Wiskott- Aldrich Syndrome, ADA Deficient SCID | — | 2000-10-25 |
| Completed | Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Severe Combined Immunodeficiency | — | 2000-09-26 |
| Completed | Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Familial Dementia With Neuroserpin Inclusion Bodies, Nervous System Heredodegenerative Disorder | — | 2000-08-10 |
| Completed | Risk Evaluation and Education for Alzheimer's Disease Alzheimer's Disease | N/A | 2000-08-01 |
| Recruiting | Study of Alkaptonuria Alkaptonuria | — | 2000-06-21 |
| Completed | Gene Therapy and Ganciclovir in Treating Patients With Stage IV Melanoma Melanoma (Skin) | Phase 1 | 2000-03-01 |
| Completed | Study of the Experiences and Needs of Parents Continuing a Pregnancy Following a Prenatal Diagnosis of Holopre Holoprosencephaly | — | 2000-03-01 |
| Completed | Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD) ADHD | — | 2000-02-08 |
| Completed | Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpoly Colorectal Cancer | N/A | 2000-02-01 |
| Terminated | Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Neural Tube Defects (NTDs), Facial Cleft Defect, Hereditary Oral Clefts | — | 2000-01-01 |
| Completed | Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Pain | Phase 2 | 2000-01-01 |
| Completed | Genetic Analysis of Left-Right Axis Formations Congenital Heart Disease | — | 1999-12-13 |
| Completed | Microarray Analysis for Human Genetic Disease Breast Neoplasm, Hereditary Neoplastic Syndrome, Melanoma | — | 1999-06-29 |
| Completed | Lung Disease Associated With Rheumatoid Arthritis Pulmonary Fibrosis | — | 1999-04-05 |
| Completed | Genetic Analysis of Familial Melanoma Melanoma | — | 1999-03-04 |
| Completed | Study of Skeletal Disorders and Short Stature Developmental Bone Disease, Dwarfism, Skeletal Dysplasias | — | 1998-06-01 |
| Completed | Genetic Analysis of Hereditary Non-Syndromic Oral Clefts Hereditary Oral Clefts | — | 1997-08-31 |
| Completed | Gene Analysis of Parkinson's Disease Parkinson's Disease | — | 1997-08-29 |
| Completed | Positional Cloning of the Gene(s) Responsible for Alagille Syndrome Alagille Syndrome | — | 1997-05-01 |
| Completed | Study of Heritable Connective Tissue Disorders Connective Tissue Disease, Dissecting Aneurysm, Ehlers Danlos Syndrome | — | 1997-03-01 |
| Completed | Genetic Analysis of Parkinson's Disease Parkinson's Disease | — | 1997-02-11 |
| Completed | Evaluation of Patients With Unresolved Chromosome Abnormalities Abnormalities, Failure to Thrive, Mental Retardation | — | 1996-12-01 |
| Completed | Issues Surrounding Prenatal Genetic Testing for Achondroplasia Achondroplasia, Dwarfism | — | 1996-08-01 |
| Completed | Mapping Genes for Type 2 (Non-Insulin Dependent) Diabetes Mellitus Genetic Variation, Diabetes | — | 1996-06-01 |
| Completed | Twins Study of Gene Therapy for HIV Infection Acquired Immunodeficiency Syndrome, HIV Infection, Kaposi's Sarcoma | Phase 1 | 1996-03-01 |
| Recruiting | Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome (HPS) | — | 1995-11-06 |
| Enrolling By Invitation | Genetic Studies of Lysosomal Storage Disorders Lysosomal Storage Disorders, Gaucher Disease, Parkinson Disease | — | 1995-03-08 |
| Completed | Outcomes of Education and Counseling for BRCA1 Testing Breast Neoplasms, Ovarian Neoplasms | — | 1995-03-01 |
| Completed | Genetic Analysis of Hereditary Prostate Cancer Prostate Cancer | — | 1995-01-01 |
| Completed | Study of Clinical and Molecular Manifestations of Genetic Disorders Hereditary Diseases | — | 1994-10-01 |
| Completed | Phenotype and Etiology of Pallister-Hall Syndrome Malformations, Multiple Abnormalies, Polydactyly | — | 1994-08-18 |
| Recruiting | Study of Proteus Syndrome and Related Congenital Disorders Proteus Syndrome, PIK3CA Related Overgrowth Spectrum | — | 1994-04-27 |
| Recruiting | Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever | — | 1994-03-10 |
| Completed | Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Defi Severe Combined Immunodeficiency | — | 1990-09-01 |
| Recruiting | Use of Cysteamine in the Treatment of Cystinosis Cystinosis | — | 1979-01-04 |
| Recruiting | Diagnosis and Treatment of Patients With Inborn Errors of Metabolism Arterial Calcification Due to Deficiency of CD73 | — | 1978-09-12 |
| Completed | Personalized Medicine Decision-Making in a Virtual Clinical Setting Deep Vein Thrombosis, Blood Clots | — | — |