Clinical trials: Metabolism, Inborn Errors
Morquio Syndrome, Accumulation of Mucopolysaccharides
Biomarker for Morquio Disease (BioMorquio)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Morquio disease from plasma
- Conditions
- Morquio Syndrome, Accumulation of Mucopolysaccharides, Morquio Syndrome A, Morquio B Disease
- Trial name
- BioMorquio (NCT01457456)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Neuronal Ceroid Lipofuscinosis, Batten's Disease
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Neuronal Ceroid Lipofuscinosis (NCL) also known at Batten's disease is the most common neurodegenerative disorder in children. Families often report the patient has a sleep disturbance.
- Trial name
- NCT01966757
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Nationwide Children's Hospital
Hyperuricemia or Gout, Hypertension
Effect of Dotinurad in Hyperuricemia With Hypertension
The effect of dotinurad on CAVI (cardio-ankle vascular index) will be compared with that of febuxostat in patients with hyperuricemia complicated by hypertension.
- Trial name
- DIANA-NEXT (NCT06834230)
- Testing
- Dotinurad, Febuxostat
- Where
- Japan
- Volunteers
- 360 people
- Sponsor
- Saga University
Hereditary Tyrosinemia, Type I
A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients
This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.
- Trial name
- NCT06227429
- Testing
- Nitisinone
- Where
- 4 sites in China
- Sponsor
- Swedish Orphan Biovitrum
Lipodystrophy, Generalized Lipodystrophy (GLD)
Compassionate Use or Expanded Access of Mibavademab
Provide Expanded Access to REGN4461 for patients with diseases associated with deficient leptin signaling.
- Conditions
- Lipodystrophy, Generalized Lipodystrophy (GLD), Monogenic Obesity (MOB)
- Trial name
- NCT04710056
- Testing
- REGN4461
- Sponsor
- Regeneron Pharmaceuticals
Neonatal Screening, Lysosomal Storage Diseases
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected.
- Trial name
- LysoNeo (NCT04393701)
- Testing
- Additional blood sampling
- Where
- 2 sites in France
- Volunteers
- 100,000 people
- Sponsor
- University Hospital, Rouen
Familial Hypercholesterolemia
A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication
This study is designed to assess whether colesevelam given as third line treatment added to a maximal tolerated and stable dose of a statin and ezetimibe is able to further decrease the level of LDL cholesterol in a safe and…
- Trial name
- NCT00655265
- Testing
- Colesevelam hydrochloride film-coated tablets
- Where
- 8 sites in France, Germany and 3 more
- Volunteers
- 86 people
- Sponsor
- Genzyme, a Sanofi Company
Hutchinson-Gilford Progeria Syndrome
A Study Observing Disease Progression in a Patient With Hutchinson-Gilford Progeria Syndrome (HGPS)
This study is a prospective, non-interventional, single-patient observational study following one patient with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes rapid, premature aging, over a 3-year period…
- Trial name
- progeria (NCT07839351)
- Where
- South Korea
- Volunteers
- 1 people
- Sponsor
- Bundang CHA Hospital
Gout
Treat-to-Target Serum Urate Versus Treat-to-Avoid Symptoms in Gout
The TRUST study is a randomized, controlled multicenter study to evaluate the management of gout by comparing two commonly used treatment strategies for gout (TTT vs TTASx) to determine the most beneficial for a patient-centered…
- Trial name
- TRUST (NCT04875702)
- Testing
- Allopurinol, Naproxen 250 MG, Colchicine 0.6 mg
- Where
- 7 sites in United States
- Volunteers
- 650 people
- Sponsor
- Massachusetts General Hospital
Intra-abdominal Fat, Metabolic Syndrome
Habitual Diet and Avocado Trial
The Habitual Diet and Avocado Trial will evaluate the effects of providing one avocado per day for recommended consumption over a 6 month period in a cohort of approximately 1000 free-living participants with increased waist…
- Conditions
- Intra-abdominal Fat, Metabolic Syndrome, High Cholesterol, Triglycerides High
- Trial name
- HAT (NCT03528031)
- Testing
- Intervention Daily Avocado
- Where
- 4 sites in United States
- Volunteers
- 1,008 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Adrenal Hyperplasia, Congenital
Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
The conventional glucocorticoid replacement therapy in congenital adrenal hyperplasia (CAH) renders the cortisol levels unphysiological, which may cause symptoms and long-term complications.
- Trial name
- CAH (NCT01771328)
- Testing
- Hydrocortisone, Cortisone acetate
- Where
- Norway
- Volunteers
- 20 people
- Sponsor
- Haukeland University Hospital
Gaucher Disease
A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease
A protocol to extend the assessment of the safety and efficacy of taliglucerase alfa in pediatric subjects (2 to <18 years old) with symptoms and clinical manifestations of Gaucher disease who completed treatment in Protocols…
- Trial name
- NCT01411228
- Testing
- Taliglucerase alfa
- Where
- 3 sites in Israel, Paraguay and 1 more
- Volunteers
- 15 people
- Sponsor
- Pfizer
Severe Familial Hypercholesterolemia
Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders
A study to assess the long term safety and tolerability of evolocumab (AMG 145) in adolescents and adults with severe familial hypercholesterolemia.
- Trial name
- TAUSSIG (NCT01624142)
- Testing
- Evolocumab
- Where
- 44 sites in United States, Australia and 16 more
- Volunteers
- 300 people
- Sponsor
- Amgen
Hyperhomocysteinemia
Evaluation of a Genetically Determined Personalized Approach in Prescribing Biologically Active Substances in Patients With Elevated Blood Homocysteine Levels.
The clinical trial assesses the effectiveness and safety of a genetically-determined personalized approach to prescribing bioactive substances in patients with elevated blood homocysteine levels.
- Trial name
- PERBIO-HC (NCT06264570)
- Testing
- B-TMG supplementation, B-SAM supplementation
- Where
- Russia
- Volunteers
- 111 people
- Sponsor
- S.LAB (SOLOWAYS)
Hypercholesterolemia, Familial
Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
Protein convertase subtilisin kexin type 9 (PCSK-9) inhibitors demonstrated efficacy in cholesterol reduction and in the prevention of cardiovascular events.
- Trial name
- NCT04313270
- Testing
- Evolocumab
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- Federico II University
Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
AGU Registry and NHS
The Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) aims to gain a more comprehensive understanding of Aspartylglucosaminuria (AGU) disease through an in-depth understanding of the disease…
- Trial name
- NCT07903402
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Rare Trait Hope
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
N-acetylglutamate Synthase (NAGS) Deficiency
Orphan Europe Carbaglu® Surveillance Protocol
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information.
- Trial name
- NCT03409003
- Where
- 3 sites in United States
- Volunteers
- 30 people
- Sponsor
- Nicholas Ah Mew
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
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.
- Trial name
- KAMPER (NCT01016392)
- Where
- 69 sites in Austria, France and 7 more
- Volunteers
- 627 people
- Sponsor
- BioMarin Pharmaceutical
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