Clinical trials: Inherited Disorders of Metabolism
Tyrosinemia, AKU
Evaluation of TYR Sphere in France
10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian.
- Trial name
- TYR sphere Fra (NCT04761588)
- Testing
- Tyr sphere
- Where
- France
- Volunteers
- 14 people
- Sponsor
- Vitaflo International, Ltd
Hereditary Transthyretin Amyloidosis, Carpal Tunnel Syndrome
Hereditary Transthyretin Amyloidosis Polyneuropathy in Patients With Carpal Tunnel Syndrome in Russia
This is a multicenter observational study consisting of retrospective and prospective phases. The retrospective phase will entail secondary data collection from electronic or paper medical records of patients who underwent…
- Conditions
- Hereditary Transthyretin Amyloidosis, Carpal Tunnel Syndrome, Polyneuropathy, Amyloidosis
- Trial name
- LOCUS (NCT06414746)
- Where
- 13 sites in Russia
- Volunteers
- 721 people
- Sponsor
- AstraZeneca
Congenital Adrenal Hyperplasia
Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
This phase III study is an open-label extension study to be conducted at approximately 21 investigational sites across 3 countries.
- Trial name
- NCT05299554
- Testing
- Chronocort
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 76 people
- Sponsor
- Immedica Pharma AB
Hyperuricemia, Gout
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ABP-671
The purpose of this study is to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of multiple ascending doses of ABP-671 administered orally in subjects with hyperuricemia.
- Trial name
- NCT04060173
- Testing
- ABP-671
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Atom Therapeutics Co., Ltd
CAH - Congenital Adrenal Hyperplasia
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 (Crinecerfont) in Pediatric Participants With Congenital Adrenal Hyperplasia
This is a Phase 2, open-label, multiple-dose, study to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-74788 (crinecerfont) in pediatric participants (14 to 17 years of age) with a…
- Trial name
- NCT04045145
- Testing
- Crinecerfont
- Where
- 6 sites in United States
- Volunteers
- 8 people
- Sponsor
- Neurocrine Biosciences
Mucopolysaccharidosis III-A
Phase I/II Study of JR-441 in Patients With Mucopolysaccharidosis Type IIIA
A Phase I/ II, open-label, randomized, 2-arm study, designed to evaluate the safety and explore efficacy of the study drug in development for the treatment of MPS IIIA patients.
- Trial name
- NCT06095388
- Testing
- JR-441
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- JCR Pharmaceuticals Co., Ltd.
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
Sanfilippo Syndrome Type D
A Natural History Study of Sanfilippo Syndrome Type D
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young…
- Trial name
- MPSIIID (NCT05648851)
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Phoenix Nest
Gout, Arthritis, Gouty
Phase 3 Evaluation of Efficacy and Safety of AR882 in Gout Patients (AR882-302)
This study will assess the serum uric acid lowering effect and safety of AR882 in gout patients at two doses compared to placebo over 12 months
- Conditions
- Gout, Arthritis, Gouty, Hyperuricemia, Gout Chronic
- Trial name
- NCT06439602
- Testing
- AR882 50 mg, AR882 75 mg
- Where
- 68 sites in United States, Australia and 3 more
- Volunteers
- 818 people
- Sponsor
- Arthrosi Therapeutics
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Friedreich's Ataxia
A First in Human Study of RT001 in Patients With Friedreich's Ataxia
The purpose of this study is to evaluate the safety, tolerability and pharmacokinetics of RT001 in patients with Friedreich's ataxia.
- Trial name
- NCT02445794
- Testing
- Low dose cohort, High dose cohort
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Biojiva LLC
Erythropoietic Protoporphyria
Multicentre Phase III Erythropoietic Protoporphyria Study
This was a phase III, multicentre, randomised, double-blind, placebo-controlled study, to evaluate the safety and efficacy of subcutaneous bioresorbable afamelanotide implants in patients with Erythropoietic Protoporphyria (EPP).
- Trial name
- NCT04053270
- Testing
- Afamelanotide
- Volunteers
- 100 people
- Sponsor
- Clinuvel Pharmaceuticals Limited
Phenylketonuria
A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
The primary objective of the study is to evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of…
- Trial name
- NCT01560286
- Testing
- BMN 165 (rAvPAL-PEG)
- Where
- 6 sites in United States
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
Gout
Tigulixostat (IBI128) vs Febuxostat in Gout
The primary purpose of this study is to compare the efficacy of Tigulixostat (IBI128) versus Febuxostat on the proportion of Chinese adults with gout achieving a serum uric acid (sUA) level < 360 μmol/L at Week 24.
- Trial name
- NCT07414394
- Testing
- Febuxostat, Tigulixostat
- Where
- China
- Volunteers
- 600 people
- Sponsor
- Innovent Biologics Technology Limited (Shanghai R&D Center)
Wilson's Disease
Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base…
- Trial name
- NCT06128954
- Testing
- 900mg TETA 4HCl Once Daily Formulation, 900mg TETA 4HCl Cuprior®
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Orphalan
Dyslipidemias, High Cholesterol
Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
This study will be a placebo-controlled, double-blind, randomized, phase 3 study in participants with underlying heterozygous familial hypercholesterolemia (HeFH) and/or ASCVD to evaluate the efficacy, safety, and tolerability of…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROADWAY (NCT05142722)
- Testing
- Obicetrapib
- Where
- 181 sites in United States, China and 6 more
- Volunteers
- 2,530 people
- Sponsor
- NewAmsterdam Pharma
Lipid Metabolism, Inborn Errors, Heart Disease
Sitosterolemia Extension Study (0653-004)(COMPLETED)
This is an extension study for patients having unusually high absorption of non-cholesterol sterols, resulting in heart-related diseases.
- Trial name
- NCT00092820
- Testing
- MK0653, ezetimibe
- Volunteers
- 58 people
- Sponsor
- Organon and Co
Alpha-Mannosidosis
Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
The main objectives of the study are to evaluate safety and efficacy of repeated treatment with recombinant human alfa-mannosidase of patients with alfa-mannosidosis aged less than 6 years
- Trial name
- rhLaman-08 (NCT02998879)
- Testing
- Velmanase Alfa (e.g. Lamazym)
- Where
- 6 sites in Austria, Denmark and 3 more
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
This is a multicenter Phase 2, multiple dose, dose escalation study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of SPR001 in adult patients with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT03257462
- Testing
- SPR001
- Where
- 9 sites in United States
- Volunteers
- 24 people
- Sponsor
- Spruce Biosciences
Congenital Adrenal Hyperplasia
Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
This is a Phase 1, multicenter, open-label, single-dose study to evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-77860 in subjects with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT02349503
- Testing
- NBI-77860
- Where
- 2 sites in United States
- Sponsor
- Neurocrine Biosciences