Clinical trials: Inborn Errors of Metabolism
Transthyretin (TTR) Amyloid Cardiomyopathy
Vyndaqel Capsules Special Investigation (ATTR-CM)
Secondary Data Collection : To confirm the safety and effectiveness profiles under the actual medical practice of Vyndaqel in Japan.
- Trial name
- NCT04108091
- Testing
- Treatment for TTR amyloidosis
- Where
- Japan
- Volunteers
- 1,214 people
- Sponsor
- Pfizer
Phenylketonurias
A Prospective Clinical Study of Phenylketonuria (PKU)
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by BioMarin in this study.
- Trial name
- NCT04452513
- Where
- 14 sites in United States
- Volunteers
- 32 people
- Sponsor
- BioMarin Pharmaceutical
Gout
D-0120 Safety and PK/PD, Food Effect Study in Healthy Volunteers
This initial clinical study in the US will be a randomized, double-blind, placebo-controlled, single-dose, dose-escalation, and sequential cohort study to evaluate the safety, tolerability, PK and PD of D-0120-NA in fasting…
- Trial name
- NCT03291782
- Testing
- D-0120
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- InventisBio Co., Ltd
Urea Cycle Disorders
Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
This was a long-term safety study HPN-100 in urea cycle disorder (UCD) subjects. Subjects were assessed regularly for safety and control of their venous ammonia.
- Trial name
- NCT00947297
- Testing
- HPN-100
- Where
- 22 sites in United States, Canada
- Volunteers
- 60 people
- Sponsor
- Amgen
Uncontrolled Gout
Pegloticase and Methotrexate Co-administered in Participants With Uncontrolled Gout Who Previously Failed Pegloticase Monotherapy
This is a Phase 4, multicenter, open-label trial of pegloticase with methotrexate (MTX) in adult participants with uncontrolled gout who were previously treated with pegloticase without a concomitant immunomodulator and stopped…
- Trial name
- NCT04772313
- Testing
- Pegloticase, Methotrexate (MTX)
- Where
- 15 sites in United States
- Volunteers
- 11 people
- Sponsor
- Amgen
Homozygous Familial Hypercholesterolemia (HoFH)
A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
The purpose of the study is to establish the efficacy, safety and tolerability of rosuvastatin in children and adolescents with homozygous familial hypercholesterolemia.
- Trial name
- HYDRA (NCT02226198)
- Testing
- Rosuvastatin 20mg
- Where
- 9 sites in Belgium, Canada and 5 more
- Volunteers
- 20 people
- Sponsor
- AstraZeneca
Mucopolysaccharidosis I
Long Term Follow-Up for RGX-111
RGX-111-5101 is a long-term follow up study that evaluates the long-term safety and efficacy of RGX-111 in participants who have received RGX-111 (a gene therapy intended to deliver a functional copy of the alpha-L-iduronidase…
- Trial name
- NCT06103487
- Testing
- No Intervention
- Where
- 2 sites in United States, Brazil
- Volunteers
- 21 people
- Sponsor
- REGENXBIO Inc.
Hyperuricemia, Gout
Study of Levotofisopam 50 mg Three Times a Day (TID) Administered for 7 Days on Hyperuricemia and Gout
The purpose of this study is to determine whether levotofisopam is safe and effective in the treatment of hyperuricemia and gout.
- Trial name
- NCT01519687
- Testing
- levotofisopam
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Pharmos
Gout
A Phase Ib Clinical Trial of Peguricase for Injection With Methotrexate in Patients With Uncontrolled Gout.
To evaluate the safety and tolerability of peguricase for injection with methotrexate in patients with gout who remain uncontrolled after standardized treatment with conventional uric acid-lowering drugs, to determine the…
- Trial name
- NCT06298071
- Testing
- SIBP-R002, Methotrexate
- Where
- China
- Volunteers
- 36 people
- Sponsor
- Shanghai Institute Of Biological Products
Hereditary Periodic Fever Syndromes, Cryopyrin-associated Periodic Syndromes (CAPS)
Ilaris NIS in Korea
This is a study to evaluate safety and effectiveness of Ilaris in adult and pediatric patients receiving the drug in a clinical setting for any of the following indications, Hereditary Periodic Fever Syndromes…
- Conditions
- Hereditary Periodic Fever Syndromes, Cryopyrin-associated Periodic Syndromes (CAPS), Colchicine Resistance Familial Mediterranean Fever (crFMF), TNF Receptor Associated Periodic Syndrome (TRAPS)
- Trial name
- REASSURE (NCT06838143)
- Testing
- Ilaris
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Novartis Pharmaceuticals
Cardiac Amyloidosis, AL Amyloidosis
Efficacy of [18F]Florbetaben PET for Diagnosis of Cardiac AL Amyloidosis
This is an open-label, multi-center pivotal Phase 3 study to visually and quantitatively assess PET images obtained after single application of 300 MBq [18F]florbetaben and PET scanning of patients with suspected cardiac…
- Conditions
- Cardiac Amyloidosis, AL Amyloidosis, ATTR Amyloidosis
- Trial name
- CArdiag (NCT05184088)
- Testing
- [18F]florbetaben
- Where
- 14 sites in United States, Germany and 2 more
- Volunteers
- 244 people
- Sponsor
- Lantheus Germany GmbH
Urea Cycle Disorders
Study of the Safety, Pharmacokinetics and Efficacy of HPN-100, in Pediatric Subjects With Urea Cycle Disorders (UCDs)
This non-randomized, open-label study was approximately one year in duration and consisted of a short term NaPBA to HPN-100 switchover part involving two overnight stays followed by a 12-month long term treatment period involving…
- Trial name
- NCT01347073
- Testing
- HPN-100
- Where
- 8 sites in United States
- Volunteers
- 23 people
- Sponsor
- Amgen
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
Congenital Adrenal Hyperplasia
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
The main objective of this study is to assess the safety and tolerability of crinecerfont in pediatric participants 3 months to <4 years of age with CAH.
- Trial name
- NCT07536269
- Testing
- Crinecerfont
- Where
- 11 sites in United States
- Volunteers
- 20 people
- Sponsor
- Neurocrine Switzerland GmbH
Acute Gouty Arthritis
Canakinumab in the Treatment of Gouty Arthritis Flare(s) and Prevention of New Flares in Patients With Chronic Kidney Disease
The purpose of this study is to confirm the efficacy and safety results obtained in a chronic kidney disease (CKD) subgroup of patients participating in Phase III studies in a larger, independent patient population with difficult…
- Trial name
- NCT01593527
- Testing
- ACZ885, Triamcinelone acetonide
- Sponsor
- Novartis Pharmaceuticals
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia
This is a Phase 2 study of SPR001 for the treatment of classic CAH that will provide 12 weeks of open-label treatment to eligible subjects.
- Conditions
- Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia, CAH - 21-Hydroxylase Deficiency
- Trial name
- NCT03687242
- Testing
- SPR001
- Where
- 8 sites in United States
- Volunteers
- 11 people
- Sponsor
- Spruce Biosciences
Mucopolysaccharidosis IVA (Morquio A Syndrome)
BMN 110 Phase 3B in Australian Patients
There is currently no treatment for MPS IVA other than supportive care for the clinical manifestations of the disease. Enzyme replacement therapy (ERT) with BMN 110 to replace the deficient GALNS is a potential new treatment…
- Trial name
- MOR-AUS (NCT01966029)
- Testing
- BMN 110
- Where
- 5 sites in Australia
- Volunteers
- 13 people
- Sponsor
- BioMarin Pharmaceutical
Congenital Adrenal Hyperplasia
Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
This study is a randomized, double-blind, active-controlled, phase III study of Chronocort® compared with immediate-release hydrocortisone replacement therapy in participants aged 16 years and over with Congenital Adrenal…
- Trial name
- CONnECT (NCT05063994)
- Testing
- Chronocort, Cortef
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 55 people
- Sponsor
- Neurocrine UK Limited
Gaucher Disease
A Study of Velaglucerase Alfa (VPRIV) Given as Standard Patient Care in Young Children With Gaucher Disease
The main aim of this study is to learn if velaglucerase alfa (VPRIV) improves growth and symptoms in participants up to 5 years of age with Gaucher disease. Symptoms will be checked with blood tests.
- Trial name
- PEDS (NCT04721366)
- Testing
- Standard of Care
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Takeda
Achondroplasia
A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia
This is a Phase 3, multicenter, double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of infigratinib in children and adolescents with achondroplasia (ACH) who have completed at least 26 weeks of…
- Trial name
- PROPEL3 (NCT06164951)
- Testing
- Infigratinib 0.25 mg/kg/day
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 114 people
- Sponsor
- QED Therapeutics, a BridgeBio company
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