Clinical trials: Inherited Metabolic Disorders
Cystinosis, Nephropathic Cystinosis
Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™
In order to meet FDA standards of safety and efficacy reporting for most new drugs, food-effect bioavailability (the impact that the presence of food in the digestive tract has on the rate and extent at which a drug is absorbed…
- Trial name
- NCT01432561
- Testing
- Cysteamine bitartrate
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
Fanconi Anemia
Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine
The purpose of this research study is to: (1) determine if the combination of low dose total body irradiation, low dose cyclophosphamide and the addition of fludarabine, and a serum to suppress the immune system can allow…
- Trial name
- NCT00595127
- Testing
- Cyclophosphamide, Fludarabine, Total body irradiation (TBI)
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Classic Galactosemia
Safety and Pharmacokinetics of AT-007 in Healthy Subjects and in Adult Subjects With Classic Galactosemia
This study is a first-in-human, randomized, placebo-controlled, 4-Part, single ascending dose (SAD) and multiple ascending dose (MAD) study in healthy adult subjects and adult subjects with Classic Galactosemia.
- Trial name
- NCT04117711
- Testing
- AT-007
- Where
- 4 sites in United States
- Volunteers
- 114 people, healthy volunteers welcome
- Sponsor
- Applied Therapeutics, Inc.
G6PD Deficiency
Evaluation of a Diagnostic to Identify Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Brazil
Th objectives of this study are: To determine the performance of G6PD tests in detecting G6PD activity and hemoglobin (Hb) compared to a reference assay To assess the comprehension of the G6PD test packaging and labelling among…
- Trial name
- NCT04033640
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- 2 sites in Brazil
- Volunteers
- 1,754 people, healthy volunteers welcome
- Sponsor
- PATH
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
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
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Obesity, Lifestyle-related Condition
Lifestyle Intervention in Preparation for Pregnancy (LIPP)
Studies evaluating lifestyle intervention in obese women during pregnancy have reported limited success in decreasing excessive gestational weight gain, and have failed to achieve the key outcome of breaking the obesity cycle and…
- Conditions
- Obesity, Lifestyle-related Condition, Macrosomia, Fetal
- Trial name
- NCT03146156
- Testing
- Lifestyle Intervention
- Where
- 4 sites in United States
- Volunteers
- 143 people, healthy volunteers welcome
- Sponsor
- Tufts Medical Center
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Hypercholesterolemia, Hyperlipoproteinemia Type II
Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia
The purpose of the first part of this study is to determine the safety and tolerability of a single dose of AEM-28, an apolipoprotein E mimetic, in subjects with high total cholesterol who are otherwise healthy subjects.
- Trial name
- NCT02100839
- Testing
- AEM-28, Normal Saline
- Where
- Australia
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- LipimetiX Development, LLC
G6PD Deficiency
Validation of a Diagnostic Test for Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Anti-coagulated Blood
The primary objective of the study is to assess the accuracy of the SD Biosensor STANDARD™ point-of-care (POC) G6PD test in measuring G6PD activity and classifying results compared to a reference assay and across repeated…
- Trial name
- NCT04054661
- Testing
- SD Biosensor STANDARD G6PD Test, Pointe Scientific Test Kit, HemoCue System
- Where
- United States
- Volunteers
- 229 people, healthy volunteers welcome
- Sponsor
- PATH
Lynch Syndrome
Overcoming Barriers to the Uptake of Cascade Screening for Lynch Syndrome: Workbook Feasibility Study
The investigators will evaluate the feasibility of an intervention to improve Lynch syndrome cascade screening uptake. The investigators will conduct a pilot study among 15 patients diagnosed with Lynch Syndrome and 5 genetic…
- Trial name
- NCT04978350
- Testing
- Educational Workbook
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy
Early-onset Obesity and Cognitive Impairment in Children With Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1a (PHP1a) is a rare disease that causes childhood obesity and learning difficulties. This study will investigate eating behaviors and perform cognitive testing on children with PHP1a.
- Trial name
- NCT02411461
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Healthy
Bioequivalence Study of Colchicine Tablets
This randomized, single dose, three-way crossover study will evaluate the bioequivalence of two formulations of colchicine, the test product (colchicine 0.6mg Mutual) and a marketed combination product (colchicine 0.5 mg with…
- Trial name
- NCT01021020
- Testing
- Colchicine, Colchicine/Probenecid
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Mutual Pharmaceutical Company, Inc.
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome
Pediatric Reporting of Adult-Onset Genomic Results
The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among MyCode adolescent participants and their parents, and health behaviors of children who received…
- Conditions
- Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
- Trial name
- NCT03832985
- Testing
- Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Geisinger Clinic
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Sphingomyelin Lipidosis
Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
Primary Objective: The primary objective of this phase 2/3 study was to evaluate the efficacy of olipudase alfa (recombinant human acid sphingomyelinase) administered intravenously once every 2 weeks for 52 weeks in adult…
- Trial name
- ASCEND (NCT02004691)
- Testing
- Olipudase alfa
- Where
- 24 sites in United States, Argentina and 15 more
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
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
Malaria, Vivax, G6PD Deficiency
Assessing a Risk Model for G6PD Deficiency
A clinical study designed to develop and inform an individual risk of hemolysis model based on individual red blood cell G6PD levels.
- Trial name
- NCT03337152
- Testing
- primaquine, chloroquine + primaquine
- Where
- Thailand
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- PATH
Ornithine Transcarbamylase Deficiency
Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
The purpose of this study is to use various types of MRI and cognitive testing to evaluate changes in the brain and cognitive function that occur in subjects with ornithine transcarbamylase deficiency (OTCD) relative to healthy…
- Trial name
- NCT01569568
- Testing
- MRI scanning, Cognitive testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman