Clinical trials: Inborn Errors of Metabolism Disorders
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
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
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Obesity, Wolman Disease
Breakfast for Young Women
Investigators will in a crossover study test the health effects of eating a dairy-based protein-rich breakfast, isocaloric carbohydrate-rich breakfast or no breakfast in young overweight women.
- Conditions
- Obesity, Wolman Disease, Nutrition
- Trial name
- GoDag (NCT04652713)
- Testing
- Protein-rich breakfast, Carbohydrate-rich breakfast, No breakfast
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
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
Mevalonate Kinase Deficiency
Geranylgeraniol Supplementation in Patients With Mevalonate Kinase Deficiency
Mevalonate kinase deficiency (HyperIgD syndrome, HIDS) is an inborn error of immunity caused by a block in the mevalonate pathway.
- Trial name
- NCT06497829
- Testing
- geranylgeraniol
- Where
- Czechia
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- University Hospital, Motol
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
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
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
Fabry Disease
Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
The purpose of this research project is: to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD to use fMRI to identify altered brain function to use FBFI and fMRI together to…
- Trial name
- NCT03678324
- Testing
- Functional MRI and fast bound-pool fraction imaging
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Utah
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
Fabry Disease
Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients
This study aimed to evaluate blood oxygenation at the optic nerve head in relation with visual field losses observed in many Fabry patients. Data collected allowed to evaluate if there is a link between these two entities.
- Trial name
- NCT02023086
- Testing
- Contrast sensitivity measurement, Slit Lamp assessment and intra-ocular pressure measurement, Visual field testing
- Where
- Canada
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Université de Montréal
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
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Healthy, Hyperuricemia, Gout
Acute Effects of a Urate-lowering Bacterial Therapeutic on Small Intestinal Transcriptomics and Glycomics in Healthy Subjects
This is a pilot study investigating how a novel probiotic supplement (BEO001), with and without a dietary fiber (beta-glucan), affects the lining of the small intestine in healthy people.
- Trial name
- Bugs4U-MoA (NCT07366749)
- Testing
- BEO001 Probiotic, BEO001 Probiotic + Beta-Glucan
- Where
- Sweden
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Örebro University, Sweden