Clinical trials: Metabolism, Inborn Errors
Porphyria
Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria
OBJECTIVES: I. Evaluate the efficacy and safety of heme arginate in the treatment of 20 patients with acute attacks of porphyria. II.
- Trial name
- NCT00004789
- Testing
- heme arginate, tin mesoporphyrin
- Volunteers
- 59 people
- Sponsor
- National Center for Research Resources (NCRR)
Pompe Disease, Pompe Disease (Late-onset)
Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease…
- Conditions
- Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD
- Trial name
- NCT03893240
- Testing
- Neutralizing Antibody to SPK-3006 capsid
- Where
- 18 sites in United States, France and 4 more
- Volunteers
- 61 people
- Sponsor
- Spark Therapeutics, Inc.
Pompe Disease
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes…
- Trial name
- Pompe_HrQol (NCT04724213)
- Testing
- Testing of reliability / validity of new questionnaire
- Where
- Switzerland
- Volunteers
- 101 people
- Sponsor
- University Children's Hospital, Zurich
Gaucher Disease, Type 3
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy.
- Trial name
- NCT05586243
- Testing
- No intervention
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Minnesota
Cystinosis
The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients
Cystinosis is a rare autosomal recessive disorder, characterized by the abnormal accumulation of cystine in the lysosomes. Cystinosis is mostly caused by mutations in the cystinosin gene (CTNS).
- Trial name
- NCT02533076
- Testing
- Challenge agent: capsaicin, Mechanical stimulation with Von Frey filaments, Temperature sensitivity measurement with Advanced Thermal Stimulation
- Where
- Belgium
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Glycogen Storage Disease
Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)
This study is being done to test the effects of Lingual Muscle Therapy (LMT) in patients with Late-Onset Pompe Disease (LOPD) who have tongue weakness.
- Trial name
- NCT03255213
- Testing
- Lingual Muscle Training
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Phenylketonuria
Sapropterin on Cognitive Abilities in Young Adults With Phenylketonuria
This is a Phase 2a multicenter, double-blind, placebo-controlled, randomized, 2-arm pilot trial designed to assess the effect of sapropterin on cognitive abilities in young adults with Phenylketonuria (PKU) over a 26-week…
- Trial name
- SIGNAL (NCT01977820)
- Testing
- Sapropterin
- Where
- 2 sites in Italy, Switzerland
- Volunteers
- 2 people
- Sponsor
- BioMarin Pharmaceutical
Lactose Intolerance
Effect of a Probiotic With High Beta-galactosidase Activity on Patients With Lactose Intolerance
Lactose intolerance is a chronic disease caused by the total/partial lack of lactase production. When lactose is not properly digest, it is consumed by the microbiota.
- Trial name
- PROBIOLAC (NCT05367453)
- Testing
- Tropical juice with probiotics (B.coagulans), a Tropical juice with no probiotics, lactase tablet
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- Instituto de Investigación Hospital Universitario La Paz
Pancreatic Ductal Adenocarcinoma, Pancreatic Cancer
Cholesterol Disruption in Combination With the Standard of Care in Patients With Advanced Pancreatic Adenocarcinoma
Cardiovascular diseases and cancers, the two leading causes of death in Canada, require cholesterol to sustain their progression.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cancer, Pancreas Cancer, Metastatic Cancer
- Trial name
- NCT04862260
- Testing
- Cholesterol metabolism disruption
- Where
- 2 sites in Canada
- Volunteers
- 3 people
- Sponsor
- CHU de Quebec-Universite Laval
Eye Manifestations
Ocular Surface Changes in Patients With Cystic Fibrosis
Cystic fibrosis(CF) is an inherited disease affecting children, adolescents and young adults with dysfunction of secretory glands.It is caused by mutations in the protein-coding gene which function as the cystic fibrosis…
- Trial name
- NCT00345280
- Testing
- impression cytology, obtain the tear fluid
- Where
- Poland
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Bialystok
Familial Hypercholesterolemia
Implitapide in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy
The purpose of this study is to determine if implitapide, used in conjunction with other lipid-lowering therapies, is safe and effective when compared to placebo in lowering low-density lipoprotein cholesterol (LDL-C) in patients…
- Trial name
- NCT00079859
- Testing
- Implitapide
- Where
- 6 sites in United States, Netherlands and 1 more
- Volunteers
- 120 people
- Sponsor
- Medical Research Laboratories International
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Niemann-Pick Type C Disease
Miglustat in Niemann-Pick Type C Disease
This is a phase II randomized controlled study of miglustat in adult and juvenile patients with Niemann-Pick Type C disease. Up to 42 patients will be randomised in a 2:1 ratio to either treatment with miglustat or to a…
- Trial name
- NCT00517153
- Testing
- miglustat
- Volunteers
- 29 people
- Sponsor
- Actelion
Alpha-Mannosidosis
A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis
The overall objective of this trial is to evaluate the efficacy and safety of repeated Lamazym i.v. treatment, compared with placebo, in subjects 5-35 years of age with alpha-Mannosidosis
- Trial name
- NCT01681953
- Testing
- Lamazym
- Where
- 6 sites in Denmark, France and 3 more
- Volunteers
- 25 people
- Sponsor
- Zymenex A/S
Gout
Lesinurad and Allopurinol Combination Extension Study in Gout
This study will assess the serum uric acid lowering effects and safety of lesinurad in combination with allopurinol over a long-term timeframe.
- Trial name
- NCT01808131
- Testing
- Lesinurad
- Where
- 207 sites in United States, Australia and 9 more
- Volunteers
- 717 people
- Sponsor
- Ardea Biosciences, Inc.
Gout
NSAID Drug Interaction Study
This is a drug-drug interaction study in healthy volunteers to evaluate the potential pharmacokinetic (PK) effects of non-steroidal anti-inflammatory drugs on lesinurad and leinurad on the non-steroidal anti-inflammatory drugs.
- Trial name
- NCT01884272
- Testing
- lesinurad 400 mg, naproxen 250 mg, indomethacin 25 mg
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Ardea Biosciences, Inc.
Gout
A Study of Dotinurad Versus Allopurinol in Participants With Gout
The primary objective of this study is to evaluate the efficacy of dotinurad in lowering serum uric acid (sUA) at Week 24 compared with allopurinol in adult participants with hyperuricemia associated with gout.
- Trial name
- NCT07089875
- Testing
- Allopurinol, Dotinurad
- Where
- 119 sites in United States, Poland and 1 more
- Volunteers
- 500 people
- Sponsor
- Crystalys Therapeutics
Amyloidosis Cardiac, Healthy Adults
Intracardiac Flow Assessment in Cardiac Amyloidosis
The primary objective of this study is to define the intracardiac flow imaging biomarkers in cardiac amyloidosis.
- Trial name
- NCT05379101
- Testing
- Cardiac magnetic resonance image (CMR), Transthoracic Echocardiogram (TTE), Six-minute Walk Test
- Where
- United States
- Volunteers
- 81 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial
Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study
Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology.
- Conditions
- Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial, Turner Syndrome
- Trial name
- LIPTURN (NCT07799012)
- Where
- France
- Volunteers
- 1,416 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gout
Lesinurad Monotherapy in Gout Subjects Intolerant to Xanthine Oxidase Inhibitors
This study will assess the serum uric acid lowering effects and safety of lesinurad compared to placebo in patients who are intolerant or have a contraindication to allopurinol or febuxostat.
- Trial name
- LIGHT (NCT01508702)
- Testing
- lesinurad
- Where
- 106 sites in United States, Australia and 5 more
- Volunteers
- 214 people
- Sponsor
- Ardea Biosciences, Inc.
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