Clinical Trials on Pyruvate Carboxylase Deficiency

Total 9075 results

Mayo Clinic

Recruiting

Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

Cystinuria | Hyperoxaluria | Dent Disease | Lowe Syndrome | Adenine Phosphoribosyltransferase Deficiency

United States, Canada, Iceland, Israel
LG Chem

Recruiting

Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children (LGS)

Growth Hormone Deficiency | Chronic Renal Failure | Turner Syndrome | Small for Gestational Age | Idiopathic Short Stature

Korea, Republic of
University Health Network, Toronto
Sunnybrook Health Sciences Centre; University of Toronto; Hamilton Health Sciences... and other collaborators

Active, not recruiting

Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer (LS2)

Colorectal Neoplasms | Ovarian Neoplasms | Lynch Syndrome | Endometrial Neoplasms

Canada
Drexel University
University of North Carolina, Chapel Hill; University of KwaZulu

Completed

MAMAS: Mentoring Adolescent Mothers at School (MAMAS)

Chlamydia | Gonorrhea | Human Immunodeficiency Virus | Trichomonas Vaginitis | Herpes Simplex Type II

South Africa
University Hospital, Essen
Nico Reinsch M. D.; Till Neumann Prof. M. D.

Completed

A Prospective Observational Trial to Determine Cardiovascular Diseases in HIV-infected Patients (HIV-HEART10)

Myocardial Infarction | Heart Failure | Aging | Coronary Heart Disease | HIV-infection | HIV-encephalopathy

Germany
Merck KGaA, Darmstadt, Germany

Completed

Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®

Growth Hormone Deficiency | Turner Syndrome

Argentina, Australia, Austria, Canada, France, Germany, Italy, Norway, Russian Federation, Singapore, Spain, Sweden, United Kingdom
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant for Immunologic or Histiocytic Disorders

Immunologic Deficiency Syndromes | Hemophagocytic Lymphohistiocytosis | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell Histiocytosis

United States
Alnylam Pharmaceuticals

Completed

ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)

Acute Hepatic Porphyria | Acute Intermittent Porphyria | Porphyria, Acute Intermittent | Acute Porphyria | Hereditary Coproporphyria (HCP) | Variegate Porphyria (VP) | ALA Dehydratase Deficient Porphyria (ADP)

United States, Spain, United Kingdom, Korea, Republic of, Australia, Bulgaria, Canada, Denmark, Finland, France, Germany, Italy, Japan, Mexico, Netherlands, Poland, Sweden, Taiwan
Momentum Data
Pfizer; University of Oxford; University of Surrey

Completed

The Epidemiology, Management, and the Associated Burden of Related Conditions in Alopecia Areata

Multiple Sclerosis | Pneumonia | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Anxiety Disorders | Psoriasis | Asthma | Type 1 Diabetes | Graves Disease | Celiac Disease | Allergic Rhinitis | Urinary Tract Infections | Crohn Disease | Influenza | Ulcerative Colitis | Herpes Zoster | Herpes Simplex | Atopic Dermatitis | V... and other conditions

United Kingdom
Mayo Clinic

Completed

Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity

Multiple Sclerosis | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Uveitis | Vasculitis | Psoriasis | Graves Disease | Systemic Sclerosis | Celiac Disease | Crohn Disease | Type 1 Diabetes Mellitus | Myasthenia Gravis | Ulcerative Colitis | Dermatomyositis | Polymyositis | Vitiligo | Hepatitis, Autoimmune | Polymyalgia... and other conditions

United States
Alnylam Pharmaceuticals

Terminated

INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Acute Hepatic Porphyria | Acute Intermittent Porphyria (AIP) | Hereditary Coproporphyria (HCP) | Variegate Porphyria (VP) | ALA Dehydratase Deficient Porphyria (ADP) | Hepatic Porphyrias | Porphyria Acute

United States
Johns Hopkins University
National Cancer Institute (NCI); National Institutes of Health (NIH); ChiRhoClin...

Recruiting

The Cancer of the Pancreas Screening-5 CAPS5)Study (CAPS5)

Lynch Syndrome | Pancreas Cancer | Gene Mutation | Peutz-Jeghers Syndrome (PJS) | Germline Mutation Carrier

United States
University of Alabama at Birmingham
National Institutes of Health (NIH); Fogarty International Center of the National...

Active, not recruiting

Liver Fibrosis in Zambian HIV-HBV Co-infected Patients

Hepatocellular Carcinoma | Fibrosis, Liver | HBV | Cirrhosis, Liver | Human Immunodeficiency Virus | Alcoholic Hepatitis | Hepatitis Delta Virus

Zambia
Bloodworks
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Prospective Study of HIV Infection in Hemophiliacs

HIV Infections | Acquired Immunodeficiency Syndrome | Hemophilia A | Hepatitis, Viral, Human | Blood Disease | Cytomegalovirus Infections | Blood Transfusion
Medical University of Graz

Completed

Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients

Skin Cancer | Basal Cell Nevus Syndrome | Xeroderma Pigmentosum

Austria
National Center for Research Resources (NCRR)
James Whitcomb Riley Hospital for Children

Completed

Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes

Thrombocytopenia | Dyskeratosis Congenita | Fanconi's Anemia | Shwachman Syndrome
Children's Hospital Medical Center, Cincinnati
Memorial Sloan Kettering Cancer Center; Fred Hutchinson Cancer Center

Recruiting

HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy (RAFA)

Fanconi Anemia | Myelodysplastic Syndrome (MDS) | Acute Myelogenous Leukemia (AML) | Severe Marrow Failure

United States
National Cancer Institute (NCI)

Active, not recruiting

Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer

Lynch Syndrome | Colon Mucinous Adenocarcinoma | Colon Signet Ring Cell Adenocarcinoma | Stage IIA Colon Cancer AJCC v7 | Stage IIB Colon Cancer AJCC v7 | Stage IIC Colon Cancer AJCC v7

United States, Canada, Puerto Rico, Peru, South Africa
April M Young
National Institute on Drug Abuse (NIDA)

Active, not recruiting

Kentucky Outreach Service Kiosk (KyOSK): Reducing HIV, HCV, and Overdose Risk

Sexually Transmitted Diseases | Opioid-Related Disorders | Substance Abuse | Drug Overdose | Opiate Substitution Treatment | Human Immunodeficiency Virus (HIV) | Hepatitis C (HCV) | Intravenous Drug Usage

United States
GlaxoSmithKline

Terminated

Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures (ELEVATE)

Liver Diseases | HIV Infection | Thrombocytopenia | Hepatitis C Virus | HBV | NASH - Nonalcoholic Steatohepatitis | Human Immunodeficiency Virus | Chronic Liver Disease | HCV | Non-alcoholic Steatohepatitis | Hepatitis B Virus

United States, Spain, Taiwan, Italy, Belgium, France, Korea, Republic of, Canada, Russian Federation, Pakistan, Poland, India, Argentina
MP Biomedicals, LLC
MP Biomedicals Asia Pacific Pte. Ltd.

Completed

Dual Algorithm Post Market Clinical Study

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
Elizabeth Glaser Pediatric AIDS Foundation
Bill and Melinda Gates Foundation

Active, not recruiting

Evaluation of Advanced HIV Disease Differentiated Care Model in Malawi

AIDS-related Kaposi Sarcoma | Cryptococcal Infections | AIDS and Infections | Opportunistic Infections, HIV-Related | AIDS With Tuberculosis

Malawi
NHS Blood and Transplant
Irish Blood Transfusion Service; Welsh Blood Service; Scottish National Blood...

Completed

Notification of Donors With Positive Microbiology Markers

Hepatitis B | Hepatitis C | Human Immunodeficiency Virus | Creutzfeldt-Jakob Syndrome | Human T-lymphotropic Virus I & II

United Kingdom
Sanofi Pasteur, a Sanofi Company

Completed

DTaP-IPV-HB-PRP-T Combined Vaccine as a Primary Series and a Second Year of Life Booster in HIV-Exposed Infected and Uninfected Infants

Hepatitis B | Pertussis | Tetanus | Diphtheria | Polio | Human Immunodeficiency Virus Infection

South Africa
MP Biomedicals, LLC
MP Biomedicals Asia Pacific Pte. Ltd.

Completed

MP Diagnostics HTLV Blot 2.4 Post-Market Clinical Study

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
MP Biomedicals, LLC
Vital Systems Inc.

Unknown

Evaluation of the MP Diagnostics HTLV Blot 2.4

HTLV-I Infections | HTLV-II Infections | Human T-lymphotropic Virus 1 | Human T-lymphotropic Virus 2 | HTLV I Associated T Cell Leukemia Lymphoma | HTLV I Associated Myelopathies

United States
Foundation Fighting Blindness

Recruiting

Inherited Retinal Degenerative Disease Registry (MRTR)

Retinitis Pigmentosa | Choroideremia | Usher Syndrome | Batten Disease | Leber Congenital Amaurosis | Goldmann-Favre Syndrome | Kearns-Sayre Syndrome | Retinal Disease | Bardet-Biedl Syndrome | Stargardt Disease | Cone Dystrophy | Retinoschisis | Achromatopsia | Gyrate Atrophy | Eye Diseases Hereditary | Bassen-Kornzweig... and other conditions

United States
AIDS Malignancy Consortium
National Cancer Institute (NCI); University of Arkansas; The Emmes Company, LLC; University of Stellenbosch

Withdrawn

Testing the Addition of Paclitaxel and Carboplatin Given After Standard Chemotherapy and Radiation for Cervical Cancer in HIV-positive Women

HIV Infection | Cervical Adenocarcinoma | Cervical Adenosquamous Carcinoma | Cervical Squamous Cell Carcinoma, Not Otherwise Specified | FIGO Stage IIB Cervix Carcinoma | FIGO Stage III Cervix Carcinoma | FIGO Stage IVA Cervix Carcinoma

South Africa, Zimbabwe
Duke University
Susan G. Komen Breast Cancer Foundation

Completed

Telemedicine vs. Face-to-Face Cancer Genetic Counseling

Lynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome

United States
Paul Szabolcs

Recruiting

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC)

Congenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias | Systemic Juvenile Idiopathic Arthritis (sJIA)

United States
AIDS Malignancy Consortium
National Cancer Institute (NCI); University of Arkansas; The Emmes Company, LLC; AIDS and Cancer Specimen Resource

Active, not recruiting

Surgery in Treating Patients With Early Stage Anal Canal or Perianal Cancer and HIV Infection

HIV Infection | Anal Squamous Cell Carcinoma | Stage 0 Anal Canal Cancer | Stage I Anal Canal Cancer

United States
Umeå University
Karolinska Institutet; Lund University; Göteborg University

Enrolling by invitation

Direct Information to At-risk Relatives (DIRECT)

Lynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome | Familial Breast Cancer | Hereditary Breast Cancer | Familial Colorectal Cancer

Sweden
National Cancer Institute (NCI)

Terminated

Erlotinib Hydrochloride in Treating Non-Small Cell Lung Cancer That is Metastatic or Cannot be Removed by Surgery in Patients With HIV Infection

HIV Infection | Stage IIIA Non-Small Cell Lung Cancer | Stage IIIB Non-Small Cell Lung Cancer | Recurrent Non-Small Cell Lung Carcinoma | Stage IV Non-Small Cell Lung Cancer

United States
Fairview University Medical Center

Completed

Study of Allogeneic Bone Marrow Transplantation Following Cyclophosphamide and Radiotherapy in Patients With Myelodysplastic Syndrome and Acute Leukemia Related to Fanconi's Anemia

Myelodysplastic Syndromes | Leukemia, Lymphocytic, Acute | Fanconi's Anemia | Leukemia, Nonlymphocytic, Acute

United States
Federal University of São Paulo
Allergan

Completed

Safety Study of the Use of Topical Cyclosporine in the Treatment of Dry Eye Disease

Evaporative Dry Eye Disease | Primary Sjogren Syndrome | Secondary Sjogren Syndrome | Aqueous Deficient Dry Eye Disease

Brazil
Royal Marsden NHS Foundation Trust

Recruiting

Inherited Cancer Early Diagnosis (ICED) Study (ICED)

Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene Mutation

United Kingdom
National Cancer Institute (NCI)

Recruiting

Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia

Fanconi Anemia | Inherited Bone Marrow Failure Syndrome

United States
Brown University
Taiho Oncology, Inc.

Recruiting

TAS-116 Plus Palbociclib in Breast and Rb-null Cancer

Soft Tissue Sarcoma | Advanced Breast Cancer | SCLC | Bladder Cancer | Endometrial Cancer | Treatment-Refractory Solid Tumors | Retinoblastoma Deficiency

United States
Lei Li

Recruiting

Risk-Reducing Surgeries for Hereditary Ovarian Cancer

Colorectal Neoplasms, Hereditary Nonpolyposis | Hysterectomy | Hereditary Breast and Ovarian Cancer Syndrome | Ovariectomy

China
Rush University Medical Center
Emory University

Enrolling by invitation

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Tuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial Deletion

United States
Haukeland University Hospital
Karolinska Institutet; University Hospitals Bristol and Weston NHS Foundation... and other collaborators

Completed

Dynamic Hormone Diagnostics in Endocrine Disease (ultradian)

Congenital Adrenal Hyperplasia | Acromegaly | Growth Hormone Deficiency | Cushing Syndrome | Primary Hyperaldosteronism | Adrenal Insufficiency

Norway, Sweden, Greece, United Kingdom
Umraniye Education and Research Hospital

Unknown

Post-thyroidectomy Vocal Cord Paralysis Along With Hypocalcemia: STROBE - Guided Prospective Cohort

Thyroid Neoplasms | Thyroid Cancer, Papillary | Vocal Cord Paralysis | Thyroid Cancer | Thyroid Nodule | Vocal Cord Paresis | Multinodular Goiter | Iatrogenic Hypocalcemia | Calcium Deficiency | Iatrogenic Hypoparathyroidism | Vocal Cord; Injury, Superficial | PTH

Turkey
National Hospital for Tropical Diseases, Hanoi,...
Centers for Disease Control and Prevention; Hospital for Tropical Diseases,...

Unknown

Vietnam Cryptococcal Retention in Care Study - Version 2.1

HIV/AIDS | Mycosis Fungoides | Cryptococcosis | Cryptococcal Meningitis | Opportunistic Infections, HIV Related | Mycosis; Opportunistic

Vietnam
University Hospital Freiburg

Completed

Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment

Myelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Pearson Marrow-pancreas Syndrome | Shwachman-diamond Syndrome

Spain, Germany, Switzerland, Austria, Netherlands, Italy, Czech Republic, Belgium, Denmark, Ireland
University of California, San Francisco
National Cancer Institute (NCI)

Completed

Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission

Leukemia | Thrombocytopenia | Fanconi Anemia | Congenital Amegakaryocytic Thrombocytopenia | Severe Congenital Neutropenia | Diamond-blackfan Anemia

United States
National Institutes of Health Clinical Center (CC)

Completed

Diagnostic Effectiveness of Virtual Bronchoscopy

Chronic Granulomatous Disease | Wegener's Granulomatosis | Job's Syndrome | Bronchogenic Carcinoma | Mycobacterium Infection

United States
Cloud DX Inc.

Completed

Preliminary Testing of the Vitaliti CVSM Wearable, Vitaliti Spirotoscope, and Vitaliti IVD Station

Pneumonia | Hypertension | Diabetes Mellitus | Atrial Fibrillation | Urinary Tract Infection | Healthy Volunteers | OSA | COPD | Leukocytosis | Acute Otitis Media | Iron Deficient Anemia

Canada
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Active, not recruiting

Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral Cancer

Tobacco Use Disorder | Fanconi Anemia | Lichen Planus | Oral Neoplasm | Erythroplakia | Premalignant Lesion | Oral Cavity and Lip Precancerous Condition | Oral Cavity Leukoplakia

United States
Augusta University

Completed

Contribution of Dolutegravir to Obesity and Cardiovascular Disease

Vascular Diseases | Body Weight Changes | Cardiovascular Abnormalities | HIV-1-infection | Body Fat Disorder | HIV-Associated Lipodystrophy Syndrome | Antiviral Drug Adverse Reaction | Abnormality of Adipose Tissue

United States
OHSU Knight Cancer Institute
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma

Chronic Myeloproliferative Disorders | Fanconi Anemia | Multiple Myeloma and Plasma Cell Neoplasm | Myelodysplastic/Myeloproliferative Neoplasms

United States

Clinical Trials on Pyruvate Carboxylase Deficiency

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Cote d'Ivoire

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations