Clinical trials: Phosphate Deficiency, open to volunteers
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Hepatic Histopathology in Urea Cycle Disorders
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04908319
- Where
- 2 sites in United States
- Volunteers
- 70 people
- Sponsor
- Baylor College of Medicine
CKD, Renal Insufficiency Chronic
The CPH-MBD Cohort Dietary Substudy - Comparison of Methods for Dietary Registrations
The aim of the study is to assess the association between the calcium and phosphorus balance and the stage of kidney disease measured by creatinine clearence in patients with chronic kidney disease stage 4 and 5.
- Conditions
- CKD, Renal Insufficiency Chronic, CKD-MBD - Chronic Kidney Disease Mineral and Bone Disorder, Pre-dialysis
- Trial name
- NCT07312981
- Where
- 2 sites in Denmark
- Volunteers
- 50 people
- Sponsor
- University of Copenhagen
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized…
- Trial name
- SPLIS-HIS (NCT06669949)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of California, San Francisco
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
X-linked Hypophosphatemia (XLH)
Effective Dosing of Burosumab in XLH
X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells.
- Trial name
- NCT07183579
- Where
- United Kingdom
- Volunteers
- 120 people
- Sponsor
- University of Nottingham
Chronic Kidney Disease (Stage 3-4), Chronic Kidney Disease Mineral and Bone Disorder
Phosphate Assessment in Chronic Kidney Disease Patients Study
The proposed pilot feeding study aims to explore novel pathways in phosphate metabolism and identify new biomarkers, as well as to develop a compound index for assessing phosphate overload with high validity and reliability.
- Trial name
- PACK (NCT07368946)
- Testing
- Dietary Phosphorus Intake
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Phosphate Deficiency, Hypophosphatemia
Protocolised Management of Phosphate Replacement Trial
The aim of this cluster, crossover, randomised controlled trial is to compare two standard arms of treatment for the replacement of phosphate in critically ill patients.
- Conditions
- Phosphate Deficiency, Hypophosphatemia, Protocol Optimization, Critical Care, Intensive Care
- Trial name
- PROMPT (NCT07288944)
- Testing
- Liberal Phosphate Replacement Protocol, Restrictive Phosphate Replacement Protocol
- Volunteers
- 2,400 people
- Sponsor
- Caboolture Hospital
Pyruvate Kinase Deficiency, Glucose 6 Phosphate Dehydrogenase Deficiency
High-Dose Vitamin C in G6PDA and Pyruvate Kinase Deficiency: A Safety Study
This study is testing whether high-dose Vitamin C is safe and well-tolerated in patients with two inherited red blood cell disorders - Pyruvate Kinase Deficiency (PKD) and Class A Glucose-6-Phosphate Dehydrogenase Deficiency…
- Trial name
- G6PDA PKD (NCT07612345)
- Testing
- Vitamin C
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- University of Utah
Phosphate Deficiency, Phosphate Overload
Institution of an Italian Multicenter Database of Patients Affected by Diseases of Phosphate Metabolism
The goal of this observational study is to create, manage and analyze a multicenter national database of patients affected by diseases of phosphate metabolism, aimed at collecting and studying anamnestic, diagnostic, genetic…
- Trial name
- NCT06826664
- Where
- 28 sites in Italy
- Volunteers
- 100 people
- Sponsor
- F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore
Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency
Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders
This is a single-site Phase 1/2 open-label umbrella clinical trial designed to evaluate the safety, tolerability, and efficacy of a single intravenous dose of LNP.UCD.ABE in 5 pediatric subjects with severe infantile-onset UCDs.
- Trial name
- NCT07667387
- Testing
- LNP.UCD.ABE
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Rebecca Ahrens-Nicklas
Hypophosphatemia, Rickets
The Impact of Phosphate Metabolism on Healthy Aging
Determine the association between duration and dose of chronic conventional therapy with Pi and renal (nephrocalcinosis/nephrolithiasis), vascular (endothelial function), and cardiovascular function (echo- cardiography) in…
- Conditions
- Hypophosphatemia, Rickets, Hypercalciuria, XLH
- Trial name
- NCT03771105
- Testing
- phosphate
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Yale University
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
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
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
Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency
Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
The proposed clinical study is intended to evaluate oral P5P for the treatment of patients confirmed to have Pyridox(am)ine 5'-Phosphate Oxidase (PNPO) deficiency via genetic analysis.
- Trial name
- MEND-PNPO (NCT04706013)
- Testing
- Pyridoxal Phosphate
- Where
- 7 sites in United States, Australia
- Volunteers
- 15 people
- Sponsor
- Medicure