Search clinical trials for: phenylalanine hydroxylase deficiency

Total 9968 results

Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium
Orphanetics Pharma Entwicklungs GmbH

Terminated

Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and Safety

Phenylalanine Hydroxylase Deficiencies
NGGT INC.

Not yet recruiting

AAV Gene Therapy Clinical Study in Adult Classic PKU

Phenylketonurias
Shanghai Jiao Tong University School of Medicine

Not yet recruiting

Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency (CGP21)

Congenital Adrenal Hyperplasia

China
Mayo Clinic

Recruiting

24-Hydroxylase Deficiency and CYP24A1 Mutation Patient Registry

24-hydroxylase Deficiency

United States
Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Recruiting

Monogenic Kidney Stone - Genetic Testing

Rare Kidney Stone Diseases

United States
Eunice Kennedy Shriver National Institute of Child...

Recruiting

Natural History Study of Patients With Excess Androgen

Congenital Adrenal Hyperplasia (CAH) | Familial Male-Limited Precocious Puberty (FMPP)

United States
Neurocrine Biosciences

Active, not recruiting

Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Patients With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)

Congenital Adrenal Hyperplasia

United States, United Kingdom, France, Greece, Italy, Spain, Belgium, Canada, Germany, Poland
RTI International
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

Early Check: Expanded Screening in Newborns

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States
metaX Institut fuer Diatetik GmbH
Birmingham Children's Hospital

Completed

Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria

Phenylketonurias | Hyperphenylalaninaemia | Tetrahydrobiopterin Deficiency

United Kingdom
Chelsea Therapeutics

Completed

Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (Droxi-304) (NOH304)

Neurogenic Orthostatic Hypotension | Primary Autonomic Failure | Dopamine Beta Hydroxylase Deficiency | Non-Diabetic Neuropathy
Homology Medicines, Inc

Terminated

Gene Therapy Clinical Study in Adult PKU (pheNIX)

Phenylketonurias | PAH Deficiency

United States
H. Lundbeck A/S

Completed

Sustained Effect of Droxidopa in Symptomatic Neurogenic Orthostatic Hypotension (RESTORE)

Symptomatic Neurogenic Orthostatic Hypotension

United States
Homology Medicines, Inc

Enrolling by invitation

Long-Term Follow Up Study of Subjects Previously Administered HMI 102

Phenylketonuria | PAH Deficiency

United States
Takeda
Ovid Therapeutics Inc.

Completed

A Multicenter, Open-label, Pilot Study of Soticlestat (TAK-935/OV935) in Participants With 15Q Duplication Syndrome (Dup 15q) or Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (ARCADE STUDY)

15q Duplication Syndrome | CDKL5 Deficiency Disease

United States
Diurnal Limited
National Institutes of Health Clinical Center (CC)

Completed

Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia

Adrenogenital Syndrome | Congenital Adrenal Hyperplasia | 21-Hydroxylase Deficiency

United States
Vanderbilt University
National Heart, Lung, and Blood Institute (NHLBI)

Terminated

Treatment of Orthostatic Hypotension

Autonomic Nervous System Diseases | Orthostatic Hypotension | Orthostatic Intolerance | Dopamine Beta-Hydroxylase Deficiency

United States
University Hospital, Caen

Enrolling by invitation

Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency (VaraD-Cell)

Idiopathic Infantile Hypercalcemia - Severe Form

France
Vanderbilt University Medical Center

Completed

The Pathophysiology of Orthostatic Hypotension

Autonomic Nervous System Diseases | Orthostatic Hypotension | Orthostatic Intolerance | Dopamine Beta-Hydroxylase Deficiency

United States
Millendo Therapeutics, Inc.

Completed

A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

United States
Takeda
Ovid Therapeutics Inc.

Completed

A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies (ELEKTRA)

Epilepsy | Dravet Syndrome | Lennox-Gastaut Syndrome

United States, Canada, Israel, Poland, Spain, Australia, China, Portugal
University Hospital, Basel, Switzerland

Completed

Influence of Kidney Performance and Magnesium on Formation of (OH)2-vitamin D3

Hydroxylase Deficiency
Spruce Biosciences

Completed

Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia | CAH - Congenital Adrenal Hyperplasia | CAH - 21-Hydroxylase Deficiency

United States
Roswell Park Cancer Institute
National Cancer Institute (NCI)

Completed

Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders

Primary Myelofibrosis | Chronic Myelomonocytic Leukemia | Recurrent Adult Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Burkitt Lymphoma | Recurrent... and other conditions

United States
Roswell Park Cancer Institute

Completed

Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies

Primary Myelofibrosis | Polycythemia Vera | Chronic Myelomonocytic Leukemia | Recurrent Adult Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Burkitt Lymphoma and other conditions

United States
GlaxoSmithKline

Completed

Single and Repeated Dose Escalation Study of GSK2838232

Infection, Human Immunodeficiency Virus

United States
Vanderbilt University

Approved for marketing

Long Term Treatment With L-DOPS

Dopamine Beta Hydroxylase (DBH) Deficiency

United States
Assistance Publique - Hôpitaux de Paris

Unknown

Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency. (EVAF-21)

Adrenal Hyperplasia, Congenital | 21-hydroxylase Deficiency

France
Chelsea Therapeutics

Terminated

A Clinical Study of Patients With Symptomatic NOH to Assess Sustained Effects of Droxidopa Therapy

Parkinson's Disease | Pure Autonomic Failure | Dopamine Beta Hydroxylase Deficiency | Symptomatic Neurogenic Orthostatic Hypotension | Multiple Systems Atrophy

United States
Maria I. New
National Center for Research Resources (NCRR); Office of Rare Diseases (ORD)

Completed

Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

21-hydroxylase Deficiency

United States, Brazil
Kobe University
Mochida Pharmaceutical Company, Ltd.

Completed

Protective Effect of EPA on Cardiovascular Events

Myocardial Infarction, Unstable Angina Pectoris, Sudden Cardiac Death, Stroke, Peripheral Artery Disease

Japan
Neurocrine Biosciences

Withdrawn

Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

United States
Emory University
BioMarin Pharmaceutical; Atlanta Clinical and Translational Science Institute

Completed

Nutritional and Neurotransmitter Changes in PKU Subjects on BH4 (BH4&PKU)

Phenylketonuria

United States
BioMarin Pharmaceutical

Completed

Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels

Phenylketonurias

United States
Chelsea Therapeutics
Chiltern International Inc.

Completed

Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (NOH302)

Primary Autonomic Failure | Dopamine Beta Hydroxylase Deficiency | Symptomatic Neurogenic Orthostatic Hypotension (NOH) | Non-diabetic Neuropathy

United States, Australia, Canada, New Zealand
Chelsea Therapeutics

Completed

Open-Label Clinical Study of Droxidopa in Patients With Neurogenic Orthostatic Hypotension (NOH) (NOH303)

Multiple System Atrophy | Neurogenic Orthostatic Hypotension | Dopamine Beta Hydroxylase Deficiency | Non-Diabetic Autonomic Neuropathy

United States, Australia, Canada, New Zealand
Chelsea Therapeutics
Chiltern International Inc.

Completed

A Clinical Study for Patients With Neurogenic Orthostatic Hypotension (NOH) Using Droxidopa (NOH301)

Primary Autonomic Failure | Dopamine Beta Hydroxylase Deficiency | Symptomatic Neurogenic Orthostatic Hypotension (NOH) | Non-diabetic Neuropathy

United States, Canada
Johnson & Johnson Pharmaceutical Research & Development...

Completed

A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency

21-hydroxylase Deficiency

United States
BioMarin Pharmaceutical

Completed

A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine Levels

Phenylketonurias

United States
Office of Rare Diseases (ORD)

Unknown

Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia

Adrenal Hyperplasia, Congenital

United States
Office of Rare Diseases (ORD)

Unknown

Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers

Adrenal Hyperplasia, Congenital

United States, Brazil, France
BioMarin Pharmaceutical

Approved for marketing

Sapropterin Expanded Access Program

Phenylketonuria

United States
Universidad Francisco de Vitoria

Recruiting

Effect of Creatine Supplementation on Physical Performance in Vegan Subjects (CREATINVEG)

Deficiency; Diet

Spain
Henry M. Jackson Foundation for the Advancement...
US Military HIV Research Program

Not yet recruiting

Safety and Efficacy of Broadly Neutralizing Antibodies Combined With Therapeutic Vaccination for the Induction of HIV Remission (ACHIEV)

HIV Infections | Acute HIV Infection | ART | PLWH

Thailand
IRCCS San Raffaele

Not yet recruiting

Prospective Monocentric Registry of Patients Undergoing Vitamin D Treatment at San Raffaele Hospital

Hypovitaminosis D
University of Zurich
University Hospital, Geneva; Centre Hospitalier Universitaire Vaudois; University... and other collaborators

Not yet recruiting

SWIFT - SWIss Factor XIII Trial in PPH (SWIFT)

Hemorrhage | Coagulation Disorder | Postpartum Hemorrhage | Postpartum Complication | Coagulation Factor Deficiency

Switzerland
University of California, Los Angeles
National Institute on Minority Health and Health Disparities (NIMHD); Lundquist... and other collaborators

Not yet recruiting

An Integrated Intervention Using a Pill Ingestible Sensor System (Sensor-SBDOH)

HIV/AIDS | Medication Adherence | Social Determinants of Health (SDOH)

United States
University of Wolverhampton

Not yet recruiting

Relative Energy Deficiency in Sport and Dance

Relative Energy Deficiency in Sport | Bone Stress Reaction

United Kingdom
Fondazione Policlinico Universitario Agostino Gemelli...

Not yet recruiting

Tissue Oximetry's Measurement in Cytoreductive Surgery With Hyperthermic Intraperitoneal Chemotherapy

Acute Kidney Injury | Oxygen Deficiency | Ovarian Carcinoma
CHU de Reims

Recruiting

Description of the Immune Deficiency in Patients With Untreated Chronic Lymphocytic Leukemia and Search for Predictive Factors of Infectious Risk

Chronic Lymphocytic Leukemia

France

Search clinical trials for: phenylalanine hydroxylase deficiency

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