Clinical Trials on Pyruvate Carboxylase Deficiency Disease

Total 8799 results

Genentech, Inc.

Completed

Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD)

Dwarfism, Pituitary | Turner Syndrome
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
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
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
Thomas Benfield

Recruiting

Changes in Weight, Body Composition and Metabolic Parameters After Discontinuing Dolutegravir or Tenofovir Disproxil (AVERTAS-2)

HIV Infections | Obesity | Renal Insufficiency | Osteoporosis | Hiv | Weight Gain | HIV Lipodystrophy

Denmark
Baxalta now part of Shire

Completed

Safety and Efficacy Study of a 10% Intravenous Immune Globulin Solution in Subjects With Primary Immunodeficiency Disorders

Primary Immunodeficiency Diseases (PID) | Immune Thrombocytopenic Purpura (ITP) | Kawasaki Syndrome

United States
NeurogesX

Completed

Tolerability of Three Local Anesthetic Formulations in Conjunction With NGX-4010 for the Treatment of Neuropathic Pain

HIV Infections | Pain | Diabetes Mellitus | Diabetic Neuropathies | Peripheral Nervous System Diseases | Neuralgia | Herpes Zoster | Polyneuropathies

United States
Masonic Cancer Center, University of Minnesota

Recruiting

T Cell Receptor α/β TCD HCT in Patients With Fanconi Anemia

Myelodysplastic Syndromes | Fanconi Anemia | Severe Aplastic Anemia

United States
NeurogesX

Terminated

An Open-Label Extension Study of NGX-4010 for the Treatment of Neuropathic Pain

HIV Infections | Pain | Diabetes Mellitus | Diabetic Neuropathies | Peripheral Nervous System Diseases | Neuralgia | Herpes Zoster | Polyneuropathies
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)

Fanconi Anemia

France
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
National Institute of Respiratory Diseases, Mexico
Hospital General Dr. Manuel Gea González; National Institute of Medical Sciences... and other collaborators

Not yet recruiting

Point of Care Tests to Identify Opportunistic Infections in Advanced HIV Patients in Mexico City (PREVALIOCDMX)

Acquired Immunodeficiency Syndrome | Cryptococcal Meningitis | Tuberculosis Infection | Histoplasmosis AIDS

Mexico
CENTOGENE GmbH Rostock

Withdrawn

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis) (BioCystinosis)

Hypophosphatemia | Photophobia | Renal Fanconi Syndrome

Germany, India, Sri Lanka
AbbVie

Completed

A Study to Evaluate the Efficacy and Safety of Experimental Drugs ABT- 493/ABT-530 in Adults With Chronic Hepatitis C Virus Genotype 1-6 Infection and Human Immunodeficiency Virus -1 Coinfection (EXPEDITION-2) (EXPEDITION-2)

Hepatitis C Virus Infection | Chronic Hepatitis C | Human Immunodeficiency Virus Infection | Compensated Cirrhosis and Non-cirrhotics
AbbVie

Completed

A Multipart, Open-label Study to Evaluate the Safety and Efficacy of ABT-450/r/ABT-267 With and Without ABT-333 Coadministered With and Without Ribavirin in Adult With Genotype 1 or 4 Hepatitis C Virus (HCV) Infection and Human Immunodeficiency Virus, Type 1 Coinfection (TURQUOISE-I)

Hepatitis C Virus Infection | Chronic Hepatitis C | Human Immunodeficiency Virus Infection | Compensated Cirrhosis and Non-cirrhotics
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
St. Olavs Hospital
Norwegian University of Science and Technology; The Research Council of Norway and other collaborators

Recruiting

Early Psychological Intervention After Rape (EIR)

Sexual Dysfunctions, Psychological | Sleep Disturbance | Post Traumatic Stress Disorder | Depression, Anxiety | Activity, Motor | Pelvic Pain Syndrome | Rape Sexual Assault | Pelvic Floor Myalgia | Cortisol Deficiency

Norway
University of California, San Diego
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Obstructive Sleep Apnea Endotypes and Impact on Phenotypes of People Living With HIV (PLWH/OSA)

Obstructive Sleep Apnea | Human Immunodeficiency Virus

United States
Novartis Pharmaceuticals

Completed

Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias

Myelodysplastic Syndromes | Fanconi Syndrome | Anemia, Aplastic | Beta-thalassemia | Anemia, Diamond-Blackfan

United States
Foundation for Professional Development (Pty) Ltd
National Institute of Allergy and Infectious Diseases (NIAID); University of... and other collaborators

Recruiting

Clinical Study of STI Screening to Prevent Adverse Birth and New-born Outcomes

HIV/AIDS | Pregnancy | Cost-effectiveness | Antenatal Care | Chlamydia Trachomatis | Vaginal Microbiome | Birth Outcomes | Sexually Transmitted Infection | Neisseria Gonorrhoeae | Trichomonas Vaginalis

South Africa
Memorial Sloan Kettering Cancer Center
Pediatric Brain Tumor Consortium

Terminated

A Study of the Effect of Blood Stem Cell Transplant After Chemotherapy Alone in Patients With Fanconi Anemia

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

United States
AbbVie

Completed

Efficacy and Safety of Glecaprevir/Pibrentasvir (ABT-493/ABT-530) in Treatment-Naive and Treatment-Experienced Asian Adults With Chronic Hepatitis C Virus Genotype (GT) 1 to GT6 Infection With Compensated Cirrhosis and With or Without Human Immunodeficiency Virus Co-Infection (VOYAGE-2)

Hepatitis C Virus (HCV)

China, Korea, Republic of
Lei Li

Unknown

MSI in Circulatory DNA of Endometrial Cancer

Lynch Syndrome | Endometrial Cancer | Microsatellite Instability | Circulating Tumor Cell

China
Gynecologic Oncology Group
National Cancer Institute (NCI)

Not yet recruiting

Biomarkers in Samples From Patients With Endometrial Cancer

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

United States
Kirby Institute
National Institute of Allergy and Infectious Diseases (NIAID); ViiV Healthcare and other collaborators

Withdrawn

Inflammation and Co-Infections in D²EFT (i2-D²EFT)

Cytomegalovirus Infections | Human Papilloma Virus | HIV-infection/Aids | Human Herpesvirus 4 Infections | Human Herpesvirus 8 Infection
National Cancer Institute (NCI)

Terminated

A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer

Carcinoma, Renal Cell | Gastrointestinal Stromal Tumors | Pheochromocytoma | Paraganglioma | Renal Neoplasms

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
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
CENTOGENE GmbH Rostock

Terminated

European Alpha-Mannosidosis Participant (EUMAP)

Deafness | Immunodeficiency | Mental Retardation | Gingival Hypertrophy | Skeletal Abnormalities | Facial Dysmorphism

Germany, Switzerland
National Human Genome Research Institute (NHGRI)

Recruiting

Analysis of Specimens From Individuals With Pulmonary Fibrosis

Pulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)

United States
William Gahl, M.D.
National Human Genome Research Institute (NHGRI)

Completed

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome

Pulmonary Fibrosis | Inborn Errors of Metabolism | Albinism | Oculocutaneous Albinism | Platelet Storage Pool Deficiency

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
CENTOGENE GmbH Rostock

Completed

Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

Scoliosis | Muscular Atrophy | Duchenne Muscular Dystrophy | Lordosis | Muscular Weakness | Increased Lordosis/Scoliosis | Hyporeflexia | Red-Green Color Blindness

Egypt, India, Albania, Pakistan, Georgia, Lebanon, Romania, Sri Lanka
Masonic Cancer Center, University of Minnesota
National Institutes of Health (NIH)

Recruiting

Role of Acetaldehyde in the Development of Oral Cancer

Fanconi Anemia | Oral Cavity Carcinoma | Alcohol-Related Carcinoma

United States
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
Children's Hospital Medical Center, Cincinnati

Active, not recruiting

Quercetin Chemoprevention for Squamous Cell Carcinoma in Patients With Fanconi Anemia

Fanconi Anemia | Squamous Cell Carcinoma

United States
LG Life Sciences

Completed

Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj.

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

Korea, Republic of
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
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
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
National Cancer Institute (NCI)

Completed

Nivolumab in Treating Patients With HTLV-Associated T-Cell Leukemia/Lymphoma

Acute Adult T-Cell Leukemia/Lymphoma | Adult T-Cell Leukemia/Lymphoma | Chronic Adult T-Cell Leukemia/Lymphoma | HTLV-1 Infection | Lymphomatous Adult T-Cell Leukemia/Lymphoma | Smoldering Adult T-Cell Leukemia/Lymphoma

United States
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
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
Wake Forest University Health Sciences

Recruiting

The Prospective Collection, Storage and Reporting of Data on Patients Undergoing Hematopoietic Stem Cell Transplantation Utilizing a Standard Preparative Regimen

Myelodysplastic Syndromes | Multiple Myeloma | Non-Hodgkin's Lymphoma | Chronic Lymphocytic Leukemia | Acute Lymphocytic Leukemia | Acute Myelogenous Leukemia | Chronic Myelogenous Leukemia | Hodgkin's Disease | Germ Cell Neoplasms | Immunodeficiency Diseases

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
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
Theratechnologies
Vanderbilt University Medical Center; Medpace, Inc.; Dacima Consulting; Echosens

Completed

The Visceral Adiposity Measurement and Observation Study (VAMOS)

Liver Diseases | BMI | Liver Fat | HIV | NAFLD | Hepatic Fibrosis | Hepatic Steatosis | HIV-1-infection | Liver Fibrosis | NASH | HIV Lipodystrophy | HIV-Associated Lipodystrophy | HIV I Infection | Waist Circumference | HIV Infection Primary | HIV Disease Progression | HIV-Infections | Lipohypertrophy | Ectopic Fat

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

Clinical Trials on Pyruvate Carboxylase Deficiency Disease

Sponsors and Collaborators

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Drug Interventions

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CROs in Saint Lucia

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Rare Diseases

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