Clinical trials: Genetics Syndrome
Congenital Bleeding Disorder, Haemophilia B
Safety of 40K Pegylated Recombinant Factor IX in Non-Bleeding Patients With Haemophilia B
This trial is conducted in Europe, Japan and the United States of America (USA). The aim of this clinical trial is to investigate the safety and pharmacokinetics (the determination of the concentration of the administered…
- Trial name
- NCT00956345
- Testing
- nonacog beta pegol
- Where
- 19 sites in United States, Denmark and 6 more
- Volunteers
- 18 people
- Sponsor
- Novo Nordisk A/S
Hereditary Angioedema (HAE)
Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks
The primary objectives of the study are to evaluate the safety, tolerability, and efficacy of two doses of CINRYZE with recombinant human hyaluronidase (rHuPH20) administered by subcutaneous (SC) injection to prevent angioedema…
- Trial name
- NCT01756157
- Testing
- CINRYZE with rHuPH20
- Where
- 23 sites in United States, Germany and 2 more
- Volunteers
- 47 people
- Sponsor
- Shire
Cystic Fibrosis
A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor
This is a Phase 3, randomized, double blind, placebo controlled, parallel group, multicenter study in people with cystic fibrosis (CF) who are homozygous for the F508del CF transmembrane conductance regulator (CFTR) gene mutation.
- Trial name
- NCT02347657
- Testing
- VX-661 Plus Ivacaftor Combination, Ivacaftor
- Where
- 74 sites in United States, Canada and 10 more
- Volunteers
- 510 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hypolactasia
A Non-inferiority, Multicenter and Randomized, Single-Dose Study About a Treatment to Hypolactasia (LAILAI)
The study primary objective is to compare the clinical efficacy of two formulations in the supportive treatment of lactose intolerance.
- Trial name
- EF099 (NCT01145339)
- Testing
- Lactase
- Where
- 7 sites in Brazil
- Volunteers
- 140 people
- Sponsor
- Eurofarma Laboratorios S.A.
Cystic Fibrosis
Clinical Study to Investigate Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of POL6014 in Patients With CF
"This is a randomised, double-blind, placebo-controlled multi-centre study to investigate safety and tolerability and to provide pharmacokinetic and pharmacodynamics information of orally inhaled multiple doses (80 mg, 160 mg or…
- Trial name
- NCT03748199
- Testing
- POL6014
- Where
- 4 sites in Germany
- Volunteers
- 32 people
- Sponsor
- Santhera Pharmaceuticals
Respiratory Tract Diseases, Abnormal Mucus Secretions
A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions
This is a phase 3, multicenter, randomized, rater- and patient-blind, placebo- and active-controlled, 3-arm parallel group clinical trial.
- Trial name
- NCT03843541
- Testing
- N-acetylcysteine (NAC) 600 mg, Ambroxol hydrochloride 30 mg
- Where
- 32 sites in China
- Volunteers
- 333 people
- Sponsor
- Zambon SpA
Urea Cycle Disorder, Crigler-Najjar Syndrome
HepaStem Long-Term Safety Registry
All patients having received at least one infusion of the Investigational Medicinal Product (IMP) HepaStem HHALPC during a previous interventional clinical study conducted by Promethera Biosciences
- Conditions
- Urea Cycle Disorder, Crigler-Najjar Syndrome, Acute on Chronic Liver Failure
- Trial name
- PROLONGSTEM (NCT03343756)
- Where
- 29 sites in Belgium, Bulgaria and 3 more
- Volunteers
- 44 people
- Sponsor
- Cellaion SA
Lysosomal Acid Lipase Deficiency
An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency
This is an open-label, multicenter expanded access protocol to allow patients with a confirmed diagnosis of Lysosomal Acid Lipase (LAL) Deficiency in the United States (US), access to sebelipase alfa (recombinant lysosomal acid…
- Trial name
- NCT02376751
- Testing
- sebelipase alfa
- Sponsor
- Alexion Pharmaceuticals, Inc.
Atopic Dermatitis (AD)
Clinical Study to Evaluate the Safety, Pharmacokinetics and Efficacy of VC005 in Adolescent Subjects With Mild to Moderate Atopic Dermatitis
This is a single arm, and open-label phase I study
- Trial name
- NCT07329101
- Testing
- VC005
- Where
- China
- Volunteers
- 11 people
- Sponsor
- Jiangsu vcare pharmaceutical technology co., LTD
Tyrosinemia, Type I, Tyrosinemia, Type II
Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies
The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of Zero minis, a range of protein substitute tablets for use in the dietary management of children with either TYROSINAEMIA…
- Conditions
- Tyrosinemia, Type I, Tyrosinemia, Type II, Tyrosinemia, Type III, Alkaptonuria
- Trial name
- ZeroMinisMR (NCT06298292)
- Testing
- Zero minis (range of protein substitutes in tablet form)
- Volunteers
- 15 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Tourette Syndrome
A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
Standard placebo-controlled, double-blind study design (TEV-50717 [low dose and high dose] vs. placebo in a 1:1:1 ratio) was chosen to determine whether study drug treatment results in a statistically significant effect on the…
- Trial name
- ARTISTS2 (NCT03571256)
- Testing
- TEV-50717
- Where
- 56 sites in United States, Argentina and 8 more
- Volunteers
- 158 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Sickle Cell Disease
PK Study of Ticagrelor in Children Aged Less Than 24 Months, With Sickle Cell Disease (HESTIA4)
The purpose of this Phase I study is to investigate the pharmacokinetic properties of ticagrelor in pediatric patients from 0 to less than 24 months with sickle cell disease.
- Trial name
- HESTIA4 (NCT03492931)
- Testing
- Ticagrelor
- Where
- 8 sites in Belgium, Italy and 4 more
- Volunteers
- 21 people
- Sponsor
- AstraZeneca
Hereditary Angioedema (HAE)
A Survey of Lanadelumab in Participants With Hereditary Angioedema
This study is a survey in Japan of Lanadelumab used to treat people with hereditary angioedema (HAE). The study sponsor will not be involved in how the participants are treated but will provide instructions on how the clinics…
- Trial name
- NCT05397431
- Testing
- Lanadelumab
- Where
- Japan
- Volunteers
- 155 people
- Sponsor
- Takeda
Cystic Fibrosis
A Study to Evaluate Efficacy of Ivacaftor in Subjects With Cystic Fibrosis Who Have a 3849 + 10KB C→T or D1152H CFTR Mutation
This study will evaluate the efficacy of ivacaftor treatment in subjects with CF 6 years of age and older who have a 3849 + 10KB C→T or D1152H CFTR mutation.
- Trial name
- NCT03068312
- Testing
- Ivacaftor
- Where
- Israel
- Volunteers
- 38 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Skin Laxity, Skin Lines
Improved Skin Anti-aging Outcomes Associated With Collagen Fortified Consumption In 30 to 50-Year-old Women
The goal of this clinical trial is to study the efficacy of collagen supplement on the moisture content and elasticity. 70 participants of 30-50 years old women will be enrolled from two study sites and randomly assigned to use…
- Trial name
- NCT05670977
- Testing
- Study product plus collagen supplement, Study product without collagen supplement
- Where
- 2 sites in China
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Guangdong HuaPeptides Biotechnology Co., Ltd.
Becker Muscular Dystrophy
A Study to Assess Vamorolone in Becker Muscular Dystrophy (BMD)
This Phase II pilot study is a randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, PK, PD, and exploratory clinical efficacy of vamorolone 500mg (250mg for body weight <50 kg) daily…
- Trial name
- NCT05166109
- Testing
- Vamorolone
- Where
- 2 sites in United States, Italy
- Volunteers
- 46 people
- Sponsor
- ReveraGen BioPharma, Inc.
Cystic Fibrosis
A Study to Evaluate the Safety and Efficacy of VX-371 in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation
The purpose of this study is to evaluate the safety and efficacy of treatment with VX-371 in hypertonic saline compared to hypertonic saline alone in subjects with cystic fibrosis (CF) who are ≥12 years of age, homozygous for the…
- Trial name
- NCT02709109
- Testing
- VX-371 + HS, Hypertonic saline, Orkambi
- Where
- 40 sites in United States, France and 2 more
- Volunteers
- 147 people
- Sponsor
- Parion Sciences
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease
The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.
- Trial name
- NCT06747572
- Where
- 45 sites in United States, Belgium and 7 more
- Volunteers
- 401 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Duchenne Muscular Dystrophy
Safety and Dose Finding Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)
The main objective of this study is to evaluate the safety of a high (80mg/kg) and low (40mg/kg) dose of NS-065/NCNP-01 delivered as an intravenous infusion in patients with Duchenne Muscular Dystrophy (DMD) amendable to exon 53…
- Trial name
- NCT02740972
- Testing
- NS-065/NCNP-01
- Where
- 7 sites in United States, Canada
- Volunteers
- 16 people
- Sponsor
- NS Pharma, Inc.
Congenital Bleeding Disorder, Haemophilia A
Safety and Efficacy of Turoctocog Alfa in Previously Treated Male Children With Haemophilia A
This trial is conducted in Asia, Europe, and North and South America. The aim of this clinical trial is to investigate the safety and efficacy of turoctocog alfa (recombinant factor VIII, rFVIII (N8)) in male previously treated…
- Trial name
- guardian™ 3 (NCT01138501)
- Testing
- turoctocog alfa
- Where
- 38 sites in United States, Brazil and 11 more
- Volunteers
- 65 people
- Sponsor
- Novo Nordisk A/S