Clinical trials: Phosphate Deficiency
Chronic Myelomonocytic Leukemia
The Expression of PTEN Protein and mRNA in Malignant Cells of Chronic Myelomonocytic Leukemia
The purpose of this study is to evaluate the level of a specific protein (PTEN) in the cancer cells of chronic myelomonocytic leukemia (CMML) patients.
- Trial name
- NCT01010256
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
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
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
Immunodeficiency Syndrome, Severe Aplastic Anemia
Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerous Inherited Disorders
This phase I/II trial studies the side effects of fludarabine phosphate, cyclophosphamide and total-body irradiation followed by donor bone marrow transplant and cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus…
- Conditions
- Immunodeficiency Syndrome, Severe Aplastic Anemia, Genetic Disorder
- Trial name
- NCT00358657
- Testing
- Allogeneic Bone Marrow Transplantation, Cyclophosphamide, Fludarabine Phosphate
- Where
- 3 sites in United States
- Volunteers
- 14 people
- Sponsor
- Fred Hutchinson Cancer Center
G6PD Deficiency
Effect of G6PD Deficiency on Red Blood Cell Storage
The proposed study will determine whether G6PD-deficient RBCs store differently than normal RBCs under standard blood banking conditions.
- Trial name
- NCT04081272
- Testing
- Sodium Chromate Cr51
- Where
- 2 sites in United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Columbia University
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
Hemodialysis, Hyperphosphatemia
Outcome Study of Lanthanum Carbonate Compared With Calcium Carbonate in Hemodialysis Patients : Landmark Study
The purpose of this study is to demonstrate decrease in cardiovascular mortality and morbidity in Japanese hemodialysis patients treated with Lanthanum carbonate compared with those with Calcium carbonate.
- Trial name
- LANDMARK (NCT01578200)
- Testing
- Lanthanum Carbonate, Calcium Carbonate
- Where
- Japan
- Volunteers
- 2,309 people
- Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Urea Cycle Disorders, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
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
Neonatal Hyperbilirubinemia
Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency
Neonatal Glucose-6-phosphate Dehydrogenase(G6PD) Deficiency is one of the significant reason for neonatal hyperbilirubinemia and even irreversible bilirubin encephalopathy.The neonates may be attacked due to acute infection…
- Trial name
- NCT02594904
- Testing
- Yinzhihuang Oral Liquid
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Southern Medical University, China
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
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
Non-Neoplastic Hematologic and Lymphocytic Disorder
Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders
This phase II clinical trial studies how well treosulfan and fludarabine phosphate with or without low dose radiation before donor stem cell transplantation works in treating patients with nonmalignant (noncancerous) diseases.
- Trial name
- NCT00919503
- Testing
- Allogeneic Bone Marrow Transplantation, Anti-Thymocyte Globulin, Cyclosporine
- Where
- 6 sites in United States
- Volunteers
- 98 people
- Sponsor
- Fred Hutchinson Cancer Center
Ataxia Telangiectasia, Genetic Syndrome
Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
Primary Objective To monitor and evaluate the long-term safety and tolerability of EDS-EP in AT patients. Secondary Objective To evaluate the long-term effect of EDS-EP on health-related Quality of Life (QoL; EQ-5D-5L scale).
- Trial name
- OLE-IEDAT (NCT03563053)
- Testing
- EryDex System
- Where
- 17 sites in United States, Australia and 9 more
- Volunteers
- 104 people
- Sponsor
- Quince Therapeutics S.p.A.
G6PD Deficiency
Validation of Diagnostics to Identify Glucose-6-phosphate Dehydrogenase Activity in the US
The primary objective of this study is to assess the accuracy of the SD Biosensor STANDARD G6PD Analyzer in measuring G6PD activity when used by trained health care workers.
- Trial name
- NCT04010695
- Testing
- SD Biosensor G6PD Analyzer, Pointe Scientific Test Kit, HemoCue System
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- PATH
Immunodeficiency Syndrome, Non-Cancer Diagnosis
Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by a Donor Stem Cell Transplant in Treating Patients With Immunodeficiency or Other Nonmalignant Inherited Disorders
This phase II trial studies fludarabine phosphate and total-body irradiation with or without alemtuzumab followed by donor stem cell transplant to see how well it works in treating patients with immunodeficiency or other…
- Trial name
- NCT00553098
- Testing
- Alemtuzumab, Allogeneic Bone Marrow Transplantation, Allogeneic Hematopoietic Stem Cell Transplantation
- Where
- 6 sites in United States
- Volunteers
- 29 people
- Sponsor
- Fred Hutchinson Cancer Center
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
Glucose-6-Phosphate Dehydrogenase Deficiency
Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study With Genotype - Phenotype Correlation
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent and add a burden on families in Egypt and Middle East due to lifelong diet restriction, non-fava beans diet is main food for most families in the region and parents…
- Trial name
- NCT02498340
- Testing
- non- fava beans
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Ain Shams University
Chronic Kidney Diseases, Hyperphosphatemia
Improving Phosphate Control in Children With CKD
Research goals: To explore the views and baseline knowledge of children and young people (CYP) with CKD and their caregivers to develop effective phosphate educational materials (PEM), adapted for age, and acknowledging different…
- Conditions
- Chronic Kidney Diseases, Hyperphosphatemia, Pediatric Kidney Disease, CKD-MBD
- Trial name
- IMPACT (NCT05439980)
- Testing
- Knowledge questionnaire, Focus groups
- Where
- United Kingdom
- Volunteers
- 100 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Malaria, Glucose 6 Phosphate Dehydrogenase Deficiency
Metabolism and Pharmacokinetics of Primaquine Enantiomers in Human Volunteers Receiving a Seven Day Dose Regimen
To investigate the comparative tolerability, metabolism and pharmacokinetics of individual enantiomers of PQ in healthy human volunteers, receiving study drug over the course of 7 days.
- Trial name
- NCT03934450
- Testing
- RPQ, SPQ, Primaquine Phosphate
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Mississippi, Oxford