Clinical trials: Metabolism, Inborn Errors
Severe Acute Malnutrition, Persistent Diarrhea
Trial of Rice-Based F-75 in Severe Malnutrition & Persistent Diarrhea in Children (SAM-RICE Study)
The goal of this study is to find out if a rice-based version of the F-75 therapeutic food helps children with severe acute malnutrition (SAM) and persistent diarrhea recover better than the standard commercial F-75.
- Conditions
- Severe Acute Malnutrition, Persistent Diarrhea, Children
- Trial name
- SAM-RICE (NCT07070856)
- Testing
- WHO-recommended standard therapeutic milk used for stabilization phase in SAM), HO-recommended Rice based therapeutic milk used for stabilization phase in SAM)
- Where
- 2 sites in Pakistan
- Volunteers
- 320 people
- Sponsor
- Children's Hospital and Institute of Child Health, Multan
Glycogen Storage Disease Type I
Diazoxide in the Treatment of Type 1 Glycogenosis
In children with a glycogen storage disorder, one of the enzymes needed to convert glucose into glycogen, or to break down glycogen into glucose, is missing.
- Trial name
- NCT07739394
- Volunteers
- 15 people
- Sponsor
- Central Hospital, Nancy, France
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Primary Hyperoxaluria
Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria
This is a double-blind, placebo-controlled, dose escalation trial of DCR-PHXC in Healthy Volunteers (HVs) and patients with Primary Hyperoxaluria (PH).
- Trial name
- NCT03392896
- Testing
- DCR-PHXC
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Mucopolysaccharidosis IH
Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
This is a phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human α-L-iduronidase gene for the treatment of…
- Trial name
- TigetT10_MPSIH (NCT03488394)
- Testing
- Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LVV, encoding for the α-L-iduronidase cDNA, in their final formulation medium.
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Orchard Therapeutics
Congenital Adrenal Hyperplasia
Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency
The purpose of this study is to conduct an open, randomized controlled clinical trial, evaluating the effects of different dosage forms of glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase…
- Trial name
- CGP21 (NCT04536662)
- Testing
- Hydrocortisone, Prednisone, Dexamethasone
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Shanghai Jiao Tong University School of Medicine
Lysosomal Storage Diseases, Cystinosis
Stem Cell Gene Therapy for Cystinosis
This study is a Phase 1/2 clinical trial that will assess the safety and efficacy of enriched gene-corrected hematopoietic stem cells isolated from patients affected with cystinosis.
- Trial name
- NCT03897361
- Testing
- CTNS-RD-04 (including CTNS-RD-04-LB manufactured with LentiBOOST)
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- University of California, San Diego
Gout
MPC-004 for the Treatment of an Acute Gout Flare
This study is a multicenter, randomized, double-blind, placebo-controlled, parallel group, dose-comparison to determine the efficacy and safety of a standard-dose of colchicine (4.8 mg) versus low-dose colchicine (1.8 mg) or…
- Trial name
- AGREE (NCT00506883)
- Testing
- High Dose Colchicine (4.8 mg total dose), Low Dose Colchicine (1.8mg total dose)
- Where
- 83 sites in United States
- Volunteers
- 185 people, healthy volunteers welcome
- Sponsor
- Takeda
Dyslipidemias, High Cholesterol
Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
This study will be a placebo-controlled, double-blind, randomized, phase 3 study in participants with underlying heterozygous familial hypercholesterolemia (HeFH) and/or ASCVD to evaluate the efficacy, safety, and tolerability of…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROADWAY (NCT05142722)
- Testing
- Obicetrapib
- Where
- 181 sites in United States, China and 6 more
- Volunteers
- 2,530 people
- Sponsor
- NewAmsterdam Pharma
Tetrahydrobiopterin Deficiency
Retrospective Observational Safety Effectiveness With Kuvan in hpA
A retrospective study to collect the effectiveness and safety data of the past treatment with KUVAN in Chinese patients with HPA caused by BH4 deficiency.
- Trial name
- ROSEKA (NCT03864029)
- Testing
- KUVAN
- Where
- China
- Volunteers
- 26 people
- Sponsor
- BioMarin Pharmaceutical
Alexander Disease
Evaluation of Outcome Metrics in Alexander Disease
The purpose of this study is to define the natural history of Alexander Disease, a leukodystrophy that causes neurological dysfunction.
- Trial name
- AxD Outcomes (NCT02714764)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Philadelphia
Hematologic Malignancies, Nonmalignant Diseases
Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)
Fludarabine and clofarabine are chemotherapy drugs used extensively in bone marrow transplantation. The goal of this study is to determine what causes some children to have different drug concentrations of clofarabine and…
- Conditions
- Hematologic Malignancies, Nonmalignant Diseases, Immunodeficiencies, Hemoglobinopathies
- Trial name
- NCT03609814
- Testing
- Clofarabine, Fludarabine Injection
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, San Francisco
Hurler Syndrome
Administration of IV Laronidase Post Bone Marrow Transplant in Hurler
This is a single center pilot study in which Laronidase will be given weekly for two years in patients with Hurler syndrome, also known as mucopolysaccharide IH (MPS I, Hurler syndrome), that have previously been treated with an…
- Trial name
- NCT01173016
- Testing
- Laronidase
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Cardiac Glycogenosis, Cardiomyopathy
ATR 1072 in Participants With PRKAG2 Syndrome
ATR 1072 is an investigational medicine being studied in adults with PRKAG2 Syndrome. This study will evaluate the safety of ATR 1072 and how the body processes the drug.
- Conditions
- Cardiac Glycogenosis, Cardiomyopathy, Hypertrophic, Wolff-Parkinson-White Syndrome
- Trial name
- NCT07738107
- Testing
- ATR 1072
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- Atrium Therapeutics
Cesarean Section Complications
The Effect of Paula Method Exercises on Post-cesarean Section Distension
Aim:To examine the effect of "Paula Method Exercises" after cesarean section on the prevention of postoperative distention and pain due to distension.
- Trial name
- NCT05283707
- Testing
- Paula Method Exercises
- Where
- Turkey (Türkiye)
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Akdeniz University
LDL - Low Density Lipoprotein Receptor Disorder, Rosuvastatin
Impact of Rosuvastatin Doses on LDL Levels, CPK Levels and Aspartate Aminotransferase Levels
Particpants were divided into groups based on doses of rosuvastatin and were assessed and for CPK, LDL and AST levels
- Trial name
- NCT06910098
- Testing
- Rosuvastatin
- Where
- Pakistan
- Volunteers
- 195 people, healthy volunteers welcome
- Sponsor
- Central Park Medical College
Lesch-Nyhan Syndrome
Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease
OBJECTIVES: I. Determine the effects of aminoimidazole carboxamide riboside (AICAR) on hematologic manifestations of Lesch-Nyhan disease. II.
- Trial name
- NCT00004314
- Testing
- aminomidazole carboxamide riboside
- Volunteers
- 2 people
- Sponsor
- National Center for Research Resources (NCRR)
Arthritis, Gout
Phone-Based Based Walk With Ease Program for Adults With Arthritis
The objective of this study is to examine the short-term (6-weeks and 6 months) and long-term (1 year) effects of a phone-based version of Walk With Ease intervention.
- Conditions
- Arthritis, Gout, Fibromyalgia, Rheumatoid Arthritis
- Trial name
- NCT05289544
- Testing
- Phone-Based Walk With Ease
- Where
- United States
- Volunteers
- 267 people, healthy volunteers welcome
- Sponsor
- University of South Carolina
Nephrocalcinosis, Renal Calculi
Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis
Kidney stones are very common. They affect 3-5% of the population in the United States. Many people are hospitalized for the treatment of kidney stones and some may die.
- Conditions
- Nephrocalcinosis, Renal Calculi, Hypercalciuria, Hyperparathyroidism
- Trial name
- NCT00169806
- Testing
- videotape for mapping of renal anatomy and papillary biopsy
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- Indiana Kidney Stone Institute
Phenylketonuria (PKU)
Simple Breath Test to Examine Phenylalanine Metabolism
Phenylketonuria(PKU)is a rare condition caused by the body's inability to properly breakdown an amino acid called phenylalanine(PHE), due to a missing enzyme, phenylalanine hydroxylase(PAH).
- Trial name
- NCT02009904
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
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