Clinical trials: Congenital Deformity
Homocystinuria Due to CBS Deficiency
Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices
- Trial name
- NCT02998710
- Where
- 11 sites in United States, Ireland and 2 more
- Volunteers
- 110 people
- Sponsor
- Travere Therapeutics, Inc.
Neonatal Jaundice
Intermountain Inpatient Bilirubin Decision Accuracy Study Using Smartphone-based Measurements by Picterus Jaundice Pro
The goal of this project is to evaluate the performance of Picterus Jaundice Pro in an American population, including preterm and term newborns and pre- and post- phototherapy.
- Trial name
- NCT06329843
- Testing
- Picterus Jaundice Pro (JP)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Picterus AS
Hemophilia A
A Study of PEGylated Recombinant Factor VIII (BAX855) in Previously Untreated Young Children With Severe Hemophilia A
This study is for young children with severe hemophilia A who have previously not been treated with BAX855 or other FVIII concentrates. The main aim of the study is to check for side effects from treatment with BAX855.
- Trial name
- NCT02615691
- Testing
- PEGylated Recombinant Factor VIII, ITI
- Where
- 91 sites in United States, Austria and 21 more
- Volunteers
- 120 people
- Sponsor
- Baxalta now part of Shire
Gout, Cardiovascular Diseases
Drug Use Study of Febuxostat After Recent Changes in the Prescribing Information
The prescribing information provides information on medicines. This study will check the number of patients starting febuxostat and the number of febuxostat users with cardiovascular disease after changes to the prescribing…
- Trial name
- NCT04853160
- Where
- United States
- Volunteers
- 24,046 people
- Sponsor
- Takeda
Genetic Disease, Nonsense Mutation
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Trial name
- NCT04069260
- Testing
- ELX-02
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
OTC Deficiency, Ornithine Transcarbamylase Deficiency
A Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Participants With OTCD
Evaluate the safety and pharmacodynamics of multiple doses of ARCT-810 in adolescent and adult participants with OTC deficiency.
- Conditions
- OTC Deficiency, Ornithine Transcarbamylase Deficiency, OTCD
- Trial name
- NCT06488313
- Testing
- ARCT-810
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Arcturus Therapeutics, Inc.
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 121 sites in United States, Argentina and 31 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
Leber's Hereditary Optic Neuropathy
RHODOS Follow-up Single-visit Study
This study aims to evaluate the current visual acuity of SNT-II-003 participants and compare this with the last visit from the SNT-II-003 study.
- Trial name
- RHODOS-OFU (NCT01421381)
- Where
- 3 sites in Canada, Germany and 1 more
- Volunteers
- 60 people
- Sponsor
- Santhera Pharmaceuticals
Pulmonary Arterial Hypertension
Adult Congenital Heart Disease Registry (QuERI)
Multi-center, observational, U.S.-based longitudinal program. Data will be collected prospectively for 3 years. Individual physician feedback will be provided on data collected with the purpose of improving the management of…
- Trial name
- NCT01659411
- Testing
- Observational
- Volunteers
- 217 people
- Sponsor
- Actelion
Hemophilia A, Hemophilia B
An Open-label, Multicenter Phase I/II Clinical Trial to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetic/Pharmacodynamic (PK/PD) Characteristics of SR604 Injection in Patients With Hemophilia A/B and Congenital Factor VII Deficiency
The purpose of this study is to evaluate the safety, tolerability, immunogenicity , PK, and PD of a single dose of SR604 in participants with Hemophilia A or Hemophilia B, with or without inhibitors （Part A）and to evaluate the…
- Conditions
- Hemophilia A, Hemophilia B, Factor VII Deficiency
- Trial name
- NCT07644832
- Testing
- SR604
- Where
- 9 sites in China
- Volunteers
- 76 people
- Sponsor
- Shanghai RAAS Blood Products Co., Ltd.
Pulmonary Hypertension, Sickle Cell Anemia
A Study of Patients Having Pulmonary Hypertension Associated With Sickle Cell Disease and Completing an ASSET Study
This study will assess the safety and efficacy of bosentan therapy (in a study known as ASSET) for patients who have high blood pressure in the lungs associated with sickle cell disease.
- Trial name
- ASSET-3 (NCT00360087)
- Testing
- Bosentan
- Volunteers
- 236 people
- Sponsor
- Actelion
Dermatitis, Atopic
Clinical Trial to Assess the Efficacy and Safety of Tacrolimus Ointment Treatment of Atopic Dermatitis in Adult Patients
Objective: Assess efficacy and safety of tacrolimus ointment when used in adults with moderate or severe atopic dermatitis. The ointment was applied on the affected skin twice daily for 3 weeks and then once daily until all…
- Trial name
- NCT00523952
- Testing
- tacrolimus ointment
- Where
- 25 sites in Czechia, Hungary and 1 more
- Volunteers
- 303 people
- Sponsor
- Astellas Pharma Inc
Huntington Disease, Alzheimer Disease
A Phase 1 Study To Evaluate The Effect Of Dimebon On The Pharmacokinetics Of Dextromethorphan
This drug-drug interaction study is being conducted to evaluate the potential effect of Dimebon on the pharmacokinetics on dextromethorphan, a probe substrate of the cytochrome P450 2D6 (CYP2D6) enzyme, after multiple dose…
- Trial name
- NCT00788047
- Testing
- Dextromethorphan, Dimebon + Dextromethorphan
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Pfizer
Hereditary Angioedema (HAE), Angioedema
Expanded Access for the Prevention of Acute Attacks of 1) Hereditary Angioedema (HAE) in Children and 2) Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) in Teenagers and Adults
The expanded access program allows people to gain access to an unlicensed treatment on compassionate grounds. Lanadelumab, also known as TAK-743, is a medicine to help prevent angioedema attacks.
- Trial name
- NCT04583007
- Testing
- Lanadelumab 150 mg, Lanadelumab 300 mg
- Where
- 20 sites in United States, Canada and 3 more
- Sponsor
- Shire
Sickle Cell Disease
An Extension Study to Further Evaluate the Safety, Tolerability of GBT440 in Patients With Sickle Cell Disease Who Participated in the Study GBT440-001
This is an open label, single arm study which enrolled 5 subjects with SCD who previously participated in the GBT440-001 study (NCT02285088).
- Trial name
- NCT03041909
- Testing
- GBT440
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Global Blood Therapeutics
Foramen Ovale, Patent, Heart Catheterization
Procedural Success and Safety of the Nit-Occlud® Patent Foramen Ovale (PFO) Closure Device and Its Application System
The foramen ovale is an opening in the interatrial septum. It results from an incomplete coverage of the ostium secundum. In 10 to 24% of the general population incomplete fibrosis of the interatrial septum is a clinical finding…
- Conditions
- Foramen Ovale, Patent, Heart Catheterization, Heart Septal Defects, Atrial
- Trial name
- 09k003 (NCT00968032)
- Testing
- Nit-Occlud® PFO
- Where
- Germany
- Volunteers
- 63 people
- Sponsor
- pfm medical gmbh
Atopic Dermatitis (AD)
Study to Determine the Safety and Effectiveness of Dupilumab for Treatment of Atopic Dermatitis (AD)
The primary objective of the study was to assess the efficacy of Dupilumab, compared to placebo, in adult patients with moderate-to-severe atopic dermatitis (AD).
- Trial name
- NCT01979016
- Testing
- Dupilumab, Background treatment
- Where
- 4 sites in United States, Canada
- Volunteers
- 54 people
- Sponsor
- Regeneron Pharmaceuticals
Atopic Dermatitis, Eczema
Using a Telemedicine Approach in a Genome-wide Association Study of Atopic Dermatitis - Searching for Novel Biomarkers in Clinically Relevant Phenotypes
Atopic eczema is a common skin disorder affecting at least 2-3% of the western population. Atopic eczema cannot be cured and therefore treatment aims to alleviate the symptoms of the disease.
- Conditions
- Atopic Dermatitis, Eczema, DNA
- Trial name
- NCT04965233
- Testing
- DNA reports, Information reports
- Where
- 2 sites in United States, Denmark
- Volunteers
- healthy volunteers welcome
- Sponsor
- Studies&Me
Stargardt Disease 1, STGD1
A Phase 1, First-in-Human Study of CITY-RBP4 in Healthy Volunteers and STGD1 Participants
This is a first-in-human (FIH), multicenter, randomized, double-masked, placebo-controlled adaptive clinical study evaluating the safety, tolerability, pharmacokinetic (PK), and pharmacodynamic (PD) of CITY-RBP4, following…
- Conditions
- Stargardt Disease 1, STGD1, Healthy Volunteers
- Trial name
- NCT07836452
- Testing
- CITY-RBP4
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- City Therapeutics
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