Clinical trials: Metabolism, Inborn Errors
Systemic Lupus Erthematosus, Sjogren's Syndrome
Mass Spectrometry-based Immune Profiling in Autoimmune Diseases
Based on mass spectrometry flow method, this study analyzed the typing of new T, B, NK and DC cell subsets in peripheral blood of common autoimmune diseases and their correlation with disease activity, aiming at establishing an…
- Conditions
- Systemic Lupus Erthematosus, Sjogren's Syndrome, Inflammatory Myopathies, Systemic Sclerosis (SSc)
- Trial name
- NCT07188285
- Where
- China
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Peking University People's Hospital
Ocular Albinism (OA), Oculocutaneous Albinism (OCA)
The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
The LUVIA study is a randomized placebo-controlled trial designed to investigate the effects of lutein and zeaxanthin supplementation on macular pigment and visual function in ocular or oculocutaneous albinism.
- Trial name
- LUVIA (NCT02200263)
- Testing
- Lutein plus Zeaxanthin
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Canavan Disease
A Natural History Study of Canavan Disease
The purpose of this study is to learn more about the natural history of Canavan disease
- Trial name
- NCT02851563
- Where
- 3 sites in United States, Germany
- Volunteers
- 21 people
- Sponsor
- NYU Langone Health
Amyloid Neuropathies, Familial
Early and Systematic Screening in Chronic Neuropathy
TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore…
- Trial name
- TTR-FAP (NCT03720275)
- Testing
- Systematic screening of TTR mutations
- Where
- France
- Volunteers
- 130 people
- Sponsor
- University Hospital, Bordeaux
Phenylketonuria (PKU)
A Long-Term Study of JNT-517 in Participants With Phenylketonuria
The goal of this Phase 3, open-label study is to evaluate the long-term safety of JNT-517 in pediatric and adult participants with Phenylketonuria (PKU) after completion of either Study JNT517-101 (NCT05781399) or JNT517-201…
- Trial name
- NCT06628128
- Testing
- JNT-517
- Where
- 12 sites in United States, Australia
- Volunteers
- 240 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Gaucher Disease, Type 1
A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)
This Phase 3 study was designed to confirm the efficacy and safety of eliglustat tartrate (Genz-112638) in participants with Gaucher disease type 1 who had reached therapeutic goals with enzyme replacement therapy (ERT).
- Trial name
- ENCORE (NCT00943111)
- Testing
- Eliglustat tartrate, Imiglucerase
- Where
- 34 sites in United States, Argentina and 10 more
- Volunteers
- 160 people
- Sponsor
- Genzyme, a Sanofi Company
Enzyme Replacement Therapy in Pompe Disease
Cardiopulmonary Exercise Test to Quantify Enzyme Replacement Response in Pediatric Pompe Disease
Introduction: Enzyme replacement therapy (ERT) with Myozyme improved the prospect of Pompe disease patients. Our aim was to evaluate ERT acute effect on exercise capacity in pediatric Pompe patients.
- Trial name
- NCT03147664
- Volunteers
- 5 people
- Sponsor
- Rambam Health Care Campus
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme®
To describe severe late onset patients with pompe disease receiving Myozyme®
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT00731081
- Where
- France
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Propionic Acidemia
AAVrh10-PCCA Gene Therapy for Propionic Acidemia
Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death.
- Trial name
- NCT07643844
- Testing
- AAVrh10-PCCA low dose, AAVrh10-PCCA middle dose, AAVrh10-PCCA high dose
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
MPS IV A, Mucopolysaccharidosis IVA
A Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome)
This multicenter, multinational, longitudinal study will quantify endurance and respiratory function in subjects diagnosed with MPS IVA and will better characterize the spectrum of symptoms and biochemical abnormalities in MPS…
- Conditions
- MPS IV A, Mucopolysaccharidosis IVA, Morquio A Syndrome
- Trial name
- NCT00787995
- Where
- 15 sites in United States, Argentina and 8 more
- Volunteers
- 353 people
- Sponsor
- BioMarin Pharmaceutical
X-linked Hypophosphatemia
Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
The objectives of the study are to: Identify a dose and dosing regimen of burosumab, based on safety and pharmacodynamic (PD) effect, in pediatric XLH participants Establish the safety profile of burosumab for the treatment of…
- Trial name
- NCT02163577
- Testing
- burosumab
- Where
- 9 sites in United States, France and 2 more
- Volunteers
- 52 people
- Sponsor
- Kyowa Kirin, Inc.
Hutchinson-Gilford Progeria Syndrome
Umbilical Cord Blood Transfusion in Progeria Syndrome
This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS).
- Trial name
- NCT03871972
- Testing
- Umbilical Cord Blood Unit
- Where
- South Korea
- Volunteers
- 2 people
- Sponsor
- Bundang CHA Hospital
Mucopolysaccharidosis Type I, Gargoylism
Biomarker for Hurler Disease (BioHurler)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Hurler disease from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Mucopolysaccharidosis Type I, Gargoylism, Metabolism, Inborn Errors
- Trial name
- BioHurler (NCT02298712)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Niemann-Pick Disease, Type C
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
Background: Niemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body.
- Trial name
- NCT05588167
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Gaucher Disease, Gaucher Disease Type 1
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
This is a Phase 3, multicenter, open-label, single-arm study to evaluate the safety, efficacy, PK, PD, and immunogenicity of velaglucerase beta in untreated children with GD1 or GD3 for 39 weeks.
- Conditions
- Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 3
- Trial name
- NCT07847411
- Testing
- Velaglucerase beta
- Where
- China
- Volunteers
- 10 people
- Sponsor
- CANbridge Life Sciences Ltd.
Phenylketonuria
Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With Phenylketonuria
This is an open-label, non-comparative, Phase 3 study to evaluate the degree, frequency of response and safety of Kuvan® (sapropterin dihydrochloride) in subjects aged 4 to 18 years who have phenylketonuria and with elevated…
- Trial name
- NCT01732471
- Testing
- Kuvan®
- Where
- Germany
- Volunteers
- 90 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Fabry Disease
A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry…
- Trial name
- NCT00140621
- Testing
- Agalsidase beta
- Where
- 7 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Genzyme, a Sanofi Company
Neurological Diseases
In Vitro NMR Spectroscopy in Neurological Diseases
The search for metabolic abnormalities in patients with neurological disorders represents an important challenge 1) to identify new potentially treatable inherited metabolic diseases, and 2) to identify biomarkers or new…
- Trial name
- SPECMET (NCT00841984)
- Where
- France
- Volunteers
- 271 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Gout, Hyperuricemia
Tigulixostat, Phase 3 Study, Placebo Controlled in Gout Patients
The aim of this 6-month randomized multi-regional double-blind parallel group placebo-controlled phase 3 study is to assess the efficacy and safety of three different doses of Tigulixostat in gout patients with hyperuricemia.
- Conditions
- Gout, Hyperuricemia, Gout Flare, Tophi
- Trial name
- EURELIA1 (NCT05586958)
- Testing
- Tigulixostat
- Where
- 52 sites in United States, Georgia and 2 more
- Volunteers
- 354 people
- Sponsor
- LG Chem
Inherited Epidermolysis Bullosa, Ichthyosis
FARD (RaDiCo Cohort) (RaDiCo-FARD)
The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical)…
- Conditions
- Inherited Epidermolysis Bullosa, Ichthyosis, Ectodermal Dysplasia, Incontinentia Pigmenti
- Trial name
- FARD (NCT05954416)
- Where
- 15 sites in France
- Volunteers
- 900 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
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