Clinical trials: Metabolism, Inborn Errors
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
Cystinosis
Development of Health-related Quality of Life Instrument for Patients With Cystinosis
Cystinosis is a rare congenital, inherited metabolic disorder that results in the storage of cystine in the cells of many organs of the body.
- Trial name
- QUALIFY (NCT05959668)
- Where
- Germany
- Volunteers
- 300 people
- Sponsor
- Cystinose Stiftung
Pompe Disease
Alglucosidase Alfa Pompe Safety Sub-Registry
To collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune complex-mediated reactions following treatment…
- Trial name
- NCT01710813
- Testing
- alglucosidase alfa
- Where
- 18 sites in United States, Belgium and 4 more
- Volunteers
- 110 people
- Sponsor
- Genzyme, a Sanofi Company
Cardiac Amyloidosis, Aortic Stenosis
The Role of Occult Cardiac Amyloid in the Elderly With Aortic Stenosis.
Aortic stenosis (AS) is the most common valvular heart disease. Once symptomatic with severe AS, outcome is poor unless the valve is replaced surgically or via transcatheter aortic valve replacement (TAVR).
- Trial name
- ATTRact-AS (NCT03029026)
- Testing
- Baseline assessment, Transthoracic echocardiography, 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy
- Where
- 2 sites in United Kingdom
- Volunteers
- 581 people
- Sponsor
- Queen Mary University of London
Functional Gastrointestinal Disorders, Lactose Intolerance
Fructose and Lactose Intolerance and Malabsorption in Functional Gastrointestinal Disorders
Background: The association of fructose and lactose intolerance and malabsorption with the symptoms of different functional gastrointestinal disorders (FGID) is unclear.
- Conditions
- Functional Gastrointestinal Disorders, Lactose Intolerance, Fructose Intolerance
- Trial name
- NCT02085889
- Testing
- no intervention: observational study
- Where
- Switzerland
- Volunteers
- 3,000 people
- Sponsor
- Brain-Gut Research Group
Primary Hyperoxaluria Type 1 (PH1)
A Study to Evaluate Lumasiran in Children and Adults With Primary Hyperoxaluria Type 1
The purpose of this study is to evaluate the efficacy and safety of lumasiran in children and adults with primary hyperoxaluria type 1 (PH1).
- Trial name
- ILLUMINATE-A (NCT03681184)
- Testing
- Lumasiran
- Where
- 17 sites in United States, France and 6 more
- Volunteers
- 39 people
- Sponsor
- Alnylam Pharmaceuticals
Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors
Longitudinal Study of Urea Cycle Disorders
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma.
- Conditions
- Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00237315
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 1,500 people
- Sponsor
- Andrea Gropman
Propionic Acidemia
Review of Charts From Amish/Mennonite Variant PA Patients
The natural history of patients with PA-AMV has not been systematically studied before and there is no published data in the literature about this condition since 1980.
- Trial name
- NCT03159026
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- University of Pittsburgh
Lipoprotein Lipase Deficiency, Familial, Hyperlipoproteinemia Type I
Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia
The purpose of this study is to assess safety and efficacy of CAT-2003 in patients with chylomicronemia. The study will evaluate the effects of CAT-2003 on fasting total and chylomicron triglyceride levels, as well as…
- Conditions
- Lipoprotein Lipase Deficiency, Familial, Hyperlipoproteinemia Type I, Chylomicronemia, Familial, Hypertriglyceridemia
- Trial name
- NCT02098278
- Testing
- CAT-2003
- Where
- 2 sites in Canada
- Volunteers
- 13 people
- Sponsor
- Catabasis Pharmaceuticals
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Hypercholesterolaemia, Familial Hypercholesterolaemia
An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia
TRAP-HC is a multicenter, observational, longitudinal, prospective study designed to evaluate real-world treatment patterns and lipid-lowering therapy (LLT) management in patients with hypercholesterolemia, including familial…
- Conditions
- Hypercholesterolaemia, Familial Hypercholesterolaemia, CVD Risk
- Trial name
- TRAP-HC (NCT07606118)
- Volunteers
- 2,500 people
- Sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Phenylketonuria (PKU)
Iron Supplements Effect on b-Phe Levels in PKU Patients During 3 Years Study
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr).
- Trial name
- ISPEK (NCT06792240)
- Testing
- iron supplementation, control group
- Where
- Italy
- Volunteers
- 84 people
- Sponsor
- ASST Santi Paolo e Carlo
Gas; Inhalation, Anesthesia
CARbon Impact of aNesthesic Gas
Assessing the impact of anesthesia practice on global warming and carbon footprint becomes part of the standard of care and is growing concern within the anesthesia community.
- Trial name
- CARING (NCT04163848)
- Testing
- Pollution
- Where
- Canada
- Volunteers
- 58 people
- Sponsor
- Ciusss de L'Est de l'Île de Montréal
Gout
Phase 2b/3 Study to Assess ABP-671 a Novel URAT1 Inhibitor in Participants With Gout
This is a multicenter, randomized, double-blind, Phase 2b/3 study to evaluate the efficacy and safety of ABP-671. Part 1 of the study will compare the efficacy and safety of different doses and regimens of ABP-671 with placebo…
- Trial name
- NCT05818085
- Testing
- ABP-671, Allopurinol
- Where
- 57 sites in United States, Australia and 3 more
- Volunteers
- 300 people
- Sponsor
- Atom Therapeutics Co., Ltd
Hypophosphatasia
Natural History Study of Patients With Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP)…
- Trial name
- NatHisHPP (NCT02237625)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Mitochondrial Diseases, Mitochondrial Myopathies
Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS
- Trial name
- NCT06051448
- Testing
- Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Children's Hospital of Philadelphia
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
Gaucher Disease
Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease
This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued…
- Trial name
- NCT00962260
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 15 sites in United States, Israel
- Sponsor
- Pfizer
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
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