Clinical trials: Inherited Disorders of Metabolism
Amputation, Congenital, Upper Limb; Amelia
CNS Changes Following Upper Limb Loss
The objective of this study is to better understand the structural and functional changes that the central nervous system (CNS) undergoes following congenital upper limb loss.
- Trial name
- NCT06043518
- Testing
- MRI
- Where
- Switzerland
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Hypercholesterolemia, Hyperbilirubinemia
Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old
Reaching active aging makes it important to implement new methods affecting the biological age of a person. Biochemical parameters of a blood test are aging biomarkers that are ones of the most accessible for testing.
- Conditions
- Hypercholesterolemia, Hyperbilirubinemia, Hyper IgE Syndrome, Hyper Beta Lipoproteinemia
- Trial name
- NCT04897113
- Testing
- plasma exchange with albumin, plasma exchange without albumin
- Where
- 2 sites in Russia
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- National Medical Research Center for Rehabilitation and Balneology
Hypobetalipoproteinemias
Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention
To evaluate the kinetics of intestinal absorption of vitamin E water-soluble form from the classical lipid-soluble form in a population of patients with intestinal malabsorption (hypocholesterolemias family by retention of…
- Trial name
- VEDROP (NCT01457690)
- Testing
- Tocofersolan, tocopherol alpha, Tocofersolan and tocopherol alpha
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Refractive Errors
Clinical Evaluation of Acuity 200 (Fluoroxyfocon A) RGP Contact Lens
The objective of this clinical investigation is to collect valid scientific safety and effectiveness data on the Acuity 200 (fluoroxyfocon A) Rigid Gas Permeable Contact Lens, manufactured from a newly developed rigid gas…
- Trial name
- Acuity 200 (NCT03971227)
- Testing
- Acuity 200 (Fluoroxyfocon A) contact lens, Acuity 100 (Hexafocon A) contact lens
- Where
- 3 sites in United States
- Volunteers
- 74 people, healthy volunteers welcome
- Sponsor
- Acuity Polymers, Inc.
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
Bio-equivalence Study, Fed Conditions
Fed Bioequivalence Study of CBZ Formulations
Controlled release Carbamazepine (CBZ) is a antiepileptic, antineuralgic and mood stabilizer drug. The CR formulation of CBZ is slowly absorbed and the elimination half life varies with time due to metabolism autoinduction.
- Trial name
- NCT02132897
- Testing
- Auration CR Tablets 400 Single Dose-Tegretol CR 400 Single Dose, Tegretol CR 400 Single Dose-Auration CR 400 Single Dose
- Where
- Uruguay
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Center for Clinical Pharmacology Research Bdbeq S.A.
Phenylketonuria
Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare genetic condition. If not treated, PKU can cause severe mental retardation. Women with PKU are advised to eat a special diet when pregnant to prevent mental retardation in their children.
- Trial name
- NCT00065299
- Testing
- Restricted phenylalanine diet
- Where
- 3 sites in United States
- Volunteers
- 572 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Lynch Syndrome, Endometrial Cancer
Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome
Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with…
- Conditions
- Lynch Syndrome, Endometrial Cancer, Endometrial Hyperplasia, Mismatch Repair Deficiency
- Trial name
- NCT05257057
- Testing
- Immunohistochemical staining
- Where
- United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- WellSpan Health
Late Infantile Neuronal Ceroid Lipofuscinosis, Batten Disease
Collection of Cerebrospinal Fluid in Healthy Children
The purpose of this study is to obtain cerebrospinal fluid from healthy children already undergoing a lumbar puncture procedure at New York Presbyterian Hospital, to act as healthy controls when compared to children with late…
- Trial name
- NCT01698229
- Testing
- Group 1
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Tay Sachs Disease, Canavan Disease
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer.
- Conditions
- Tay Sachs Disease, Canavan Disease, Familial Dysautonomia
- Trial name
- NCT01999257
- Testing
- Online pre-test genetic education tool
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Infectious Disease, Neoplasms
AnovaOS Network Powered Patient Registry
The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and…
- Conditions
- Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89)
- Trial name
- NCT05013944
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Anova Enterprises, Inc
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Fed
Bioequivalence Study of Etodolac Tablet USP 500 mg Under Fed Condition
This is a open Label, balanced, randomized, single dose, two-treatment, two-sequence, two-period, crossover pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01735383
- Testing
- Etodolac Tablets USP 500mg, Etodolac Tablets USP 500 mg
- Where
- India
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Hyperbilirubinemia, Jaundice
Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia
The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.
- Trial name
- NCT00383318
- Testing
- Gene mutation sample
- Where
- United States
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Pediatrix
Prader-Willi Syndrome
Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
The purpose of this study is to investigate the effects of a GLP-1 agonist on satiety hormones in patients with Prader-Willi Syndrome (genetic defect causing obesity).
- Trial name
- NCT00551343
- Testing
- Exenatide
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Garvan Institute of Medical Research
Gaucher's Disease Type I
A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
Objectives: To determine pharmacokinetic (PK) variables, including absolute bioavailability (F), of Genz-99067, the free base of the L-tartaric acid salt of Genz-112638 as it exists in plasma, after a single intravenous (IV) dose…
- Trial name
- NCT06143904
- Testing
- Genz-112638, [14C]-Genz-112638
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Sanofi
Sexual Assault, Substance Use
Nexus of Risk: Sexual Assault, Alcohol Use, and Risky Sex Among College Women
Sexual assault on college campuses has reached epidemic proportions, yet the etiological variables responsible for violence against women in these contexts remain unclear.
- Conditions
- Sexual Assault, Substance Use, Risky Health Behavior, Ema
- Trial name
- NCT05892692
- Testing
- Ecological Momentary Intervention
- Where
- United States
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
Urinary Incontinence, Menopause
The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence
This study aimed to determine the effects of Kegel exercise and Ba Duan Jin applications applied to premenopausal women with urinary incontinence on quality of life and psychological well-being.
- Conditions
- Urinary Incontinence, Menopause, Wolman Disease, Quality of Life
- Trial name
- NCT06287658
- Testing
- Training on Kegel exercise and Ba Duan Jin applications online, training on Kegel exercises and Ba Duan Jin applications after the research is completed
- Where
- Turkey (Türkiye)
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Ondokuz Mayıs University