Clinical trials: Phosphate Deficiency
G6PD Deficiency
Evaluation of a Diagnostic to Identify Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Brazil
Th objectives of this study are: To determine the performance of G6PD tests in detecting G6PD activity and hemoglobin (Hb) compared to a reference assay To assess the comprehension of the G6PD test packaging and labelling among…
- Trial name
- NCT04033640
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- 2 sites in Brazil
- Volunteers
- 1,754 people, healthy volunteers welcome
- Sponsor
- PATH
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Phosphate Diabetes, X-linked Hypophosphatemia
Phosphorus-31 Spectroscopy in Phosphate Diabetes
Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin.
- Trial name
- Phos-ATP (NCT06921720)
- Testing
- intra-muscular ATP values in phosphate diabetes, intra-muscular phosphate values in phosphate diabetes
- Where
- 2 sites in France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Pediatric Fractures, Hypovitaminosis D
Bone Outcomes, Obesity, Sunlight, and Trauma in Children
Prospective case-control study of children (3-15 years) after low-energy trauma. We compare serum bone metabolic markers (25OHD, PTH, ALP, calcium, phosphate), BMI/percentile, and dietary calcium intake between fracture and…
- Conditions
- Pediatric Fractures, Hypovitaminosis D, Obesity and Overweight
- Trial name
- BOOST (NCT07143552)
- Where
- 2 sites in Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Paracelsus Medical University
Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish…
- Conditions
- Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism, Propionic Acidemia, Methylmalonic Acidemia
- Trial name
- NCT01341379
- Testing
- N-carbamylglutamate
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency
The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Objectives: To study nutrition and immune system problems in people with urea cycle disorders. To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines.
- Conditions
- Argininosuccinic Aciduria, Carbamoyl-Phosphate Synthase I Deficiency, Citrullinemia, Ornithine Carbamoyltransferase Deficiency
- Trial name
- NCT01421888
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Glucose-6-Phosphate Dehydrogenase Deficiency
Evaluation of Different G6PD Testing Platforms
In this study the investigators propose to evaluate the performance of several G6PD testing platforms.
- Trial name
- NCT02104518
- Where
- Indonesia
- Volunteers
- 700 people, healthy volunteers welcome
- Sponsor
- PATH
Sphingolipidoses, Enzyme Deficiency
SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
This protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (SPLIS), also known as NPHS14, and to create a SPLIS patient registry.
- Trial name
- SPLIS-OSPRI (NCT04885179)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Phosphate Deficiency, Covid19
The Effect of COVID-19 Patients' Serum Phosphate Level on Mortality in ICU
The investigators aimed to investigate the relationship between phosphate level and mortality using the 4C Mortality Score in COVID-19 patients who were followed up in the intensive care unit.
- Conditions
- Phosphate Deficiency, Covid19, Mortality
- Trial name
- NCT04800770
- Testing
- 4C mortality score
- Where
- Turkey (Türkiye)
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Ankara City Hospital Bilkent
Duarte Galactosemia
Intervention and Outcomes in Duarte Galactosemia
The purpose of this study is to learn about Duarte galactosemia (DG). This study will examine the possible effects of Duarte galactosemia (DG) in children, and determine whether dietary exposure to milk in infancy or early…
- Trial name
- NCT02519504
- Where
- United States
- Volunteers
- 566 people, healthy volunteers welcome
- Sponsor
- Emory University