Clinical trials: Metabolism, Inborn Errors
Hypophosphatasia
Burden of Disease in Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by inactivating mutations in the Alkaline Phosphatase (ALPL) gene, coding for the Tissue-nonspecific alkaline phosphatase (TNAP).
- Trial name
- NCT02291497
- Where
- Germany
- Volunteers
- 114 people
- Sponsor
- Wuerzburg University Hospital
Hypocalcemia, Pseudohypoparathyroidism
Studies of States With Resistance to Vitamin D and Parathyroid Hormone
Patients with confirmed or suspected states with resistance to vitamin D or parathyroid hormone (PTH) will be admitted for diagnosis, treatment review with suggestions for modifications to the current or new treatment and for…
- Conditions
- Hypocalcemia, Pseudohypoparathyroidism, Osteomalacia, Rickets
- Trial name
- NCT00001242
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hypochondroplasia
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Phase 2, multicenter, OLE study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR (fibroblast growth factor receptor) 1-3-selective tyrosine kinase inhibitor, in participants with…
- Trial name
- NCT07393373
- Testing
- Infigratinib
- Where
- 24 sites in United States, Australia and 8 more
- Volunteers
- 135 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Leukemia, Lymphoma
CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant
CD34+ stem cell selection in children, adolescents and young adults receiving partially matched family donor or matched unrelated adult donor allogeneic bone marrow or peripheral blood stem cell transplant will be safe and well…
- Conditions
- Leukemia, Lymphoma, Bone Marrow Failure, Immunodeficiencies
- Trial name
- NCT01049854
- Testing
- Full Intensity with TBI, Full Intensity, Reduced Intensity
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Cerebrotendinous Xanthomatosis
Cholestanol in Humans
The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis.
- Trial name
- NCT00018694
- Testing
- Chenodeoxycholic Acid
- Where
- United States
- Sponsor
- US Department of Veterans Affairs
Asmd, Visceral Type
Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency
The goal of this study is to assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to healthy subjects.
- Trial name
- MONACO (NCT05904366)
- Testing
- MR Spectroscopy (MRS), MR Elastography (MRE)
- Where
- Netherlands
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Eline C. B. Eskes
Healthy Participants
A Study to Investigate the Effect of Food on Balcinrenone/Dapagliflozin Pharmacokinetics in Fed and Fasted State and Pharmacokinetics of Balcinrenone When Dosed With a P-gp Inhibitor in Healthy Participants.
The main purpose of this study is to assess the effect of food on balcinrenone/ dapagliflozin pharmacokinetics in fed and fasted state and pharmacokinetics of balcinrenone when dosed with a P-gp inhibitor in healthy participants.
- Trial name
- NCT06979388
- Testing
- balcinrenone/ dapagliflozin, quinidine
- Where
- United Kingdom
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- AstraZeneca
Neuroblastoma
4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma
The purpose of this clinical trial is to assess the feasibility, safety and efficacy of multiple 4SCAR-T cell therapy which targets GD2, PSMA and CD276 surface antigens in patients with relapsed and refractory neuroblastoma (NB).
- Trial name
- NCT04637503
- Testing
- GD2, PSMA and CD276 CAR-T cells
- Where
- China
- Volunteers
- 100 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Gout
Elastography as Gouty Arthropathy Outcome (EGO)
Elastography as Gouty Arthropathy Outcome (EGO), a pilot study.
- Trial name
- NCT02471261
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Arthritis & Rheumatism Associates, P.C.
Phenylketonuria
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KUVAN) therapy can improve such…
- Trial name
- PKU (NCT00986973)
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Children's Hospital of Philadelphia
Sanfilippo Syndrome Type A
Phase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
The purpose of this study is to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of recombinant human heparan N-sulfatase (rhHNS, GC1130A) administered via intracerebroventricular access device…
- Trial name
- NCT06567769
- Testing
- GC1130A
- Where
- 4 sites in United States, South Korea
- Volunteers
- 9 people
- Sponsor
- GC Biopharma Corp
Wilson Disease
Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
A study to review Wilson disease patients who have previously been prescribed d- Penicillamine but were changed to trientine as treatment for their disease, and to follow them for a further 12 months.
- Trial name
- NCT02426905
- Testing
- trientine dihydrochloride
- Where
- 4 sites in Germany, Greece and 2 more
- Volunteers
- 90 people
- Sponsor
- Univar BV
Dementia, Alzheimer Type, Mild Cognitive Impairment
Cardiac Amyloid Deposits and Heart Dysfunction in Alzheimer's Disease
This study seeks to explore the possible common pathogenesis of both cardiac amyloidosis and Alzheimer's disease, which can both be associated with amyloid deposits.
- Conditions
- Dementia, Alzheimer Type, Mild Cognitive Impairment, Cardiac Amyloidosis
- Trial name
- NCT07154394
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- University Hospital, Essen
Metabolism, Inborn Errors
Cardiac Manifestation and Inherited Metabolic Diseases
The aim of this study is to report and describe cardiac manifestations associated with IMD in a cohort of patients followed in a reference center for rare diseases (Lausanne University Hospital, CHUV) from 2017-2020.
- Trial name
- NCT04999566
- Where
- Switzerland
- Volunteers
- 30 people
- Sponsor
- University of Lausanne
Amyloidosis, Aortic Valve Stenosis
Screening for Amyloidosis Before Aortic Valve Elective Replacement
Previous studies detected that up to 15% of patients undergoing aortic valve replacement (AVR) for degenerative aortic stenosis have concomitant transthyretin amyloidosis (ATTR) cardiomyopathy (Castano, 2017).
- Trial name
- SAVER (NCT04869631)
- Testing
- The outcome of an intervention is not evaluated, but aortic stenosis and additional amyloidosis are compared.
- Where
- Germany
- Volunteers
- 1,000 people
- Sponsor
- Charite University, Berlin, Germany
Lactose Intolerance
Amount of Lactose Causing Symptoms in Lactose Intolerant People
The hypothesis underlying this study is that failure to recognise the role of lactose intolerance among patients has led to inappropriate dietary advice and treatment with drugs that contain lactose as a filler.
- Trial name
- NCT00395954
- Volunteers
- 48 people
- Sponsor
- University Hospitals, Leicester
Urea Cycle Disorders
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological…
- Trial name
- UCD (NCT02935283)
- Testing
- MRI, Behavioral
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Hypercholesterolemia, Familial Hypercholesterolemia
A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)
The study will assess the safety and tolerability of Ezetimibe 10 mg+ Rosuvastatin 2.5 mg and Ezetimibe 10 mg+ Rosuvastatin 5.0 mg for up to 52 weeks in Japanese participants with hypercholesterolemia uncontrolled with…
- Trial name
- NCT02748057
- Testing
- Ezetimibe, Rosuvastatin
- Volunteers
- 135 people
- Sponsor
- Organon and Co
Hypophosphatemia, Familial, Hyperparathyroidism
Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets
The purpose of this study is to determine the effectiveness of paricalcitol, a form of synthetic vitamin D, in lowering parathyroid hormone (PTH) levels and reducing disease symptoms in children and adults with X-linked…
- Trial name
- NCT00417612
- Testing
- Paricalcitol
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Yale University
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.