Clinical trials: Inherited Disorders of Metabolism
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Fetal Macrosomia, Gestational Diabetes
Regulation Of Maternal Fuel Supply And Neonatal Adiposity
The purpose of this study is to determine whether unrecognized maternal hyperglycemia and postprandial lipemia early or late in gestation predicts excess neonatal adiposity.
- Trial name
- NCT00826904
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fetal Macrosomatia, Lipid Metabolism Disorders
Influence of TyG Index and TG/HDL-C Ratio on Fetal Macrosomia
Metabolic disorders that can occur during pregnancy, in particular disorders of lipid metabolism and insulin resistance, can have a detrimental effect on pregnancy and the fetus.
- Conditions
- Fetal Macrosomatia, Lipid Metabolism Disorders, Hyperlipidemias
- Trial name
- NCT06463990
- Testing
- TyG index
- Where
- Turkey (Türkiye)
- Volunteers
- 302 people, healthy volunteers welcome
- Sponsor
- Ankara Etlik City Hospital
Disorder of Sex Development, Intersex Conditions
Decision Support for Parents Receiving Information About Child's Rare Disease
The birth of a child with a disorder of sex development (DSD) is stressful for parents and members of the healthcare team. The "right" decisions about gender assignment (is it a boy? a girl?) and the best course of action (e.g.…
- Conditions
- Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
- Trial name
- DSD DST (NCT01875640)
- Where
- 4 sites in United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Healthy Volunteer, Urea Cycle Disorder
Safety and Tolerability of SYNB1020-CP-001
A Phase 1, First-in-human, Oral Single and Multiple Dose-Escalation, Randomized, Double-blinded, Placebo-controlled Study of SYNB1020 in Healthy Adult Volunteers to Evaluate Safety, Tolerability, Dosing, and Pharmacodynamics
- Trial name
- SYNB1020CP001 (NCT03179878)
- Testing
- SYNB1020
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Synlogic
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Familial Hypercholesterolemia
Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)
Multi-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal. Improving the identification of patients at high risk of cardiovascular disease in primary care, caused…
- Trial name
- FAMCAT (NCT03934320)
- Testing
- FAMCAT
- Where
- United Kingdom
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease
Biomarker Panel for PCOS-Associated Liver Steatosis in Adolescent Girls (COMPASS-pedPCOS)
This single-center, prospective, observational, cross-sectional mechanistic pilot study will evaluate whether polycystic ovary syndrome (PCOS) contributes to hepatic steatosis in adolescent girls independently of adiposity.
- Conditions
- Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity, Hyperandrogenism
- Trial name
- COMPASSpedPCOS (NCT07731373)
- Testing
- Extended Serum Biomarker and Hormonal Panel, Liver Elastography with Controlled Attenuation Parameter, Targeted Genotyping of PNPLA3 rs738409 and HSD17B13 rs72613567
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Kayseri City Hospital
Prader-Willi Syndrome
Respiratory Restriction in Prader-Willi Syndrome
The main aim of this study is therefore to evaluate the impact of Prader Willi Syndrome (PWS) on lung and thoracoabdominal volumes, respiratory muscle strength and awake ventilatory pattern, and to quantify and localize the…
- Trial name
- RESPIPWS (NCT06851351)
- Testing
- Spirometry and optoelectronic plethysmography
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Gaucher Disease Type 1
Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
The purpose of this study is to measure levels of blood and brain chemicals related to oxidative stress and inflammation in healthy volunteers and individuals with Type 1 Gaucher disease (GD1) to see if these levels are altered…
- Trial name
- NCT02583672
- Testing
- N-acetylcysteine
- Where
- 2 sites in United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Congenital Adrenal Hyperplasia
Tweens to Teens Project at Penn State
The goal of this study is to help investigators to understand more about the development of characteristics related to being male or female (what is called gender development).
- Trial name
- T2T@PSU (NCT01184651)
- Testing
- Questionnaires/Interviews
- Where
- United States
- Volunteers
- 188 people, healthy volunteers welcome
- Sponsor
- Penn State University
Sickle Cell Anemia, Severe Acute Malnutrition
Management of Severe Acute Malnutrition in SCD, in Northern Nigeria
Except for children with HIV, all recommendations for treatment of childhood malnutrition are for children < 5 years of age. The overall goal of this randomized controlled nutrition feasibility trial is to identify whether…
- Trial name
- NCT03634488
- Testing
- hydroxyurea (20mg/kg/day), Ready-to-use therapeutic food
- Where
- 3 sites in United States, Nigeria
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Wilson's Disease
Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base…
- Trial name
- NCT06128954
- Testing
- 900mg TETA 4HCl Once Daily Formulation, 900mg TETA 4HCl Cuprior®
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Orphalan
Chronic Liver Disease
An Observational Study Evaluating Patients With Chronic Liver Diseases Associated With Hepatic Steatosis
Hepatic steatosis may cause inflammation and fibrosis within the liver potentially leading to end-stage liver disease cirrhosis, liver failure and death.
- Trial name
- FALL (NCT05335603)
- Where
- Denmark
- Volunteers
- 335 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Iron Deficiency Anemia of Pregnancy
Adiposity and Iron Requirements in Pregnancy
This study aims to explore how body fat influences the response to either 25 or 50 mg of daily iron supplements during pregnancy.
- Trial name
- ADIPREG (NCT06425796)
- Testing
- Adiposity and Iron Requirements in Pregnancy (ADIPREG)
- Where
- 3 sites in United Kingdom
- Volunteers
- 312 people, healthy volunteers welcome
- Sponsor
- University of Ulster
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
Hemochromatosis, Type 4, Ferroportin Disease
Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis.
The diagnosis of iron overload is a common problem. It is important to optimize the diagnosis to ensure support for patients and their relatives especially regarding genetic disease.
- Conditions
- Hemochromatosis, Type 4, Ferroportin Disease, Dysmetabolic Hepatosiderosis, Diagnosis
- Trial name
- NCT01949467
- Testing
- iron fumarate
- Where
- 4 sites in France
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Rennes University Hospital
Phenylketonurias
Amino Acid Kinetics of GMP-AA in Healthy Human Volunteers
Children with phenylketonuria (PKU) are treated with a special diet supplemented with a synthetic protein based on amino acids. These have a poor taste and are inefficiently used by the body.
- Trial name
- NCT05971563
- Testing
- Casein, L-amino acids, CGMP-AA
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust