Clinical trials: Genetic Conditions
Liver Diseases, Primary Biliary Cirrhosis
Repeatability and Reproducibility of Multiparametric MRI
This study aims to prospectively assess the repeatability and reproducibility of iron-corrected T1 (cT1), T2*, and hepatic proton density fat fraction (PDFF) quantification with multiparametric MRI using the LiverMultiScan™ (LMS…
- Conditions
- Liver Diseases, Primary Biliary Cirrhosis, Non-Alcoholic Fatty Liver Disease, Non-Alcoholic Steatohepatitis
- Trial name
- NCT03743272
- Testing
- LiverMultiScan
- Where
- 4 sites in Netherlands, United Kingdom
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Perspectum
Usher Syndrome, Retinitis Pigmentosa
Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
To evaluate the safety and tolerability of ascending doses of subretinal injections of SAR421869 in participants with Usher syndrome type 1B. To evaluate for possible biological activity of SAR421869.
- Trial name
- NCT01505062
- Testing
- SAR421869
- Where
- 2 sites in United States, France
- Volunteers
- 9 people
- Sponsor
- Sanofi
Huntington's Disease
Randomized, Placebo Controlled Study Of The Efficacy And Safety Of PF-02545920 In Subjects With Huntington's Disease
This study is a 26 week, randomized, parallel group, double blind comparison of PF-02545920 5 mg, PF-02545920 20 mg, and placebo dosed BID in the treatment of motor impairment of subjects with Huntington's Disease.
- Trial name
- NCT02197130
- Testing
- PF-02545920
- Where
- 57 sites in United States, Canada and 3 more
- Volunteers
- 272 people
- Sponsor
- Pfizer
Gout, Hyperuricemia
A Study to Assess Efficay and Safety of LC350189 Different Doses in Gout Patients With Hyperuricemia
The aim of this 12-week randomized multicenter double-blind parallel group placebo-controlled dose finding study is to assess the efficacy and safety of three different doses of LC350189 in subjects with hyperuricemia and a…
- Trial name
- NCT03934099
- Testing
- LC350189 formulated capsule
- Where
- 34 sites in United States
- Volunteers
- 156 people
- Sponsor
- LG Chem
Atopic Dermatitis
A Dose Ranging Placebo-Controlled Double-Blind Study to Evaluate the Safety and Efficacy of Tezepelumab in Atopic Dermatitis
This phase 2b study is designed to evaluate the safety and efficacy of tezepelumab as a monotherapy and explore its efficacy as adjunct therapy in subjects with moderate-to-severe atopic dermatitis (AD).
- Trial name
- NCT03809663
- Testing
- Tezepelumab
- Where
- 86 sites in United States, Australia and 13 more
- Volunteers
- 251 people
- Sponsor
- Amgen
Wrinkle, Scar
Pre-marketing Trial to Assess Safety and Efficacy of 'Volumizing Filler Based on Hyaluronic Acid and Recombinant Collagen'
Study to validate the safety and efficacy of the Hyaluronic Acid +Collagen filler 40 patients will undergo through 3 visits one to asses the health and apply the filler one after 4 weeks to check the results one after 16 weeks…
- Conditions
- Wrinkle, Scar, Laxity; Skin
- Trial name
- NCT06336044
- Testing
- Karisma
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- Taumedika s.r.l.
Gout Attack
Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Evaluation of RPH-104 Administered at Different Doses to Patients With Acute Gout Attack
The primary goal of the study was to evaluate the parameters of efficacy, pharmacokinetics, pharmacodynamics, safety and tolerability of a single dose of RPH-104 in adult patients with acute gout attack.
- Trial name
- NCT04067492
- Testing
- RPH - 104, Voltaren®
- Where
- 11 sites in Russia
- Volunteers
- 47 people
- Sponsor
- R-Pharm
Dermatitis, Atopic
Place of Flixovate® in the Treatment Pathway and Its Conditions of Use in Infants Aged From 3 to 12 Months Between 2010 and 2012 by French GPs and Private Paediatricians
this study has been request by french health authorities to evaluate the use of flixovate in infants and its place in the treatment pathway.
- Trial name
- flixovate HAS (NCT01920464)
- Volunteers
- 160 people
- Sponsor
- GlaxoSmithKline
Retinitis Pigmentosa
Prospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.
- Trial name
- PHENOROD2 (NCT04285398)
- Testing
- Ophthalmic examinations, Mobility Test
- Where
- 2 sites in United States, France
- Volunteers
- 82 people
- Sponsor
- SparingVision
Chronic Kidney Diseases, Diabetes
KidneYou - Innovative Digital Therapy
The aim of the study is to assess the improvement of health in patients affected by CKD when they are exposed to non-pharmacological treatment strategies as nutritional program (NP), physical activity program (PA) and mindfulness…
- Conditions
- Chronic Kidney Diseases, Diabetes, Arterial Hypertension, Chronic Glomerulonephritis
- Trial name
- NCT05286632
- Testing
- KidneYou APP
- Where
- Italy
- Volunteers
- 210 people
- Sponsor
- Advice Pharma Group srl
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease)
The primary objective of the study is to assess the long term safety of treatment with tolvaptan in children and adolescents with autosomal dominant polycystic kidney disease (ADPKD).
- Trial name
- NCT02964273
- Testing
- Tolvaptan
- Where
- 20 sites in Belgium, Germany and 2 more
- Volunteers
- 91 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Primary Gout, Hyperuricemia
Phase II/III Study of AR882 Capsules Compared to Febuxostat Tablets in Patients with Primary Gout and Hyperuricemia
The goal of this clinical trial is to evaluate the efficacy and safety of AR882 Capsules in patients with primary gout and hyperuricemia.
- Trial name
- NCT06603142
- Testing
- Febuxostat 20MG Tablets, AR882 25MG, AR882 12.5MG
- Where
- China
- Volunteers
- 636 people
- Sponsor
- Guangzhou Ruianbo Pharmaceutical Technology Co., Ltd
Hemophilia A, Hemophilia B
Safety and Effectiveness of Giroctocogene Fitelparvovec or Fidanacogene Elaparvovec in Patients With Hemophilia A or B Respectively
A study to learn about the long-term safety and efficacy of giroctocogene fitelparvovec or fidanacogene elaparvovec in patients with hemophilia A or hemophilia B respectively, who have received treatment through prior…
- Trial name
- NCT05568719
- Testing
- Testing of hepatic AAV Vector integration
- Where
- 39 sites in United States, Australia and 11 more
- Volunteers
- 173 people
- Sponsor
- Pfizer
Normal Volunteers, Atopic Dermatitis (AD)
Safety, Tolerability and PK of ATTO-3712 in Healthy Volunteers and Patients With Atopic Dermatitis
The goal of this clinical trial is to assess the safety, tolerability, and pharmacokinetics of ATTO-3712 in healthy adults and patients with atopic dermatitis.
- Conditions
- Normal Volunteers, Atopic Dermatitis (AD), Atopic Eczema, Atopic Eczema/Dermatitis (Non-Specific)
- Trial name
- NCT07205081
- Testing
- ATTO-3712
- Where
- 17 sites in United States, Canada and 1 more
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Attovia Therapeutics Inc
Genetic Predisposition to Disease, Genetics Disease
Helix Research Network
The Helix Research Network ("HRN") is a network of academic, public, and/or private healthcare organizations that are committed to advancing medical research and improving human health through large-scale genomics research and…
- Trial name
- HRN (NCT06057181)
- Testing
- Exome sequencing
- Where
- 14 sites in United States
- Volunteers
- 2,000,000 people, healthy volunteers welcome
- Sponsor
- Helix, Inc
Alagille Syndrome, Progressive Familial Intrahepatic Cholestasis
Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)
In patients with Alagille syndrome (ALGS), the key objectives are to evaluate the tolerability, long-term safety (including possible liver toxicity) and long-term efficacy of Livmarli treatment.
- Trial name
- NCT07290257
- Testing
- Livmarli Oral Product
- Where
- 15 sites in Belgium, France and 6 more
- Volunteers
- 230 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
PKP2 Arrhythmogenic Cardiomyopathy (PKP2-ACM)
A Phase 1, Dose Escalation Trial of RP-A601 in Subjects With PKP2 Variant-Mediated Arrhythmogenic Cardiomyopathy (PKP2-ACM)
This Phase 1 dose escalation trial will assess the safety and preliminary efficacy of a single dose intravenous infusion of RP-A601 in high-risk adult patients with PKP2-ACM.
- Trial name
- NCT05885412
- Testing
- RP-A601
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Retinitis Pigmentosa (RP)
Retrospective Natural History Study of Retinitis Pigmentosa
This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
- Trial name
- PHENOROD1 (NCT03975543)
- Where
- France
- Volunteers
- 113 people
- Sponsor
- SparingVision
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Safety and Efficacy of Long-term Somatropin Treatment in Children
This study is conducted in Europe. The aim of this study is to evaluate safety during the long-term use of somatropin (Norditropin®) in children as well as efficacy on change in height.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Foetal Growth Problem, Small for Gestational Age
- Trial name
- GrowthWIN II (NCT01543867)
- Testing
- somatropin
- Where
- Germany
- Volunteers
- 5,442 people
- Sponsor
- Novo Nordisk A/S
Cystinosis
Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
This was a long-term, open-label study of the safety, tolerability and effectiveness of RP103 in cystinosis patients who were naïve to any form of cysteamine treatment.
- Trial name
- NCT01744782
- Testing
- RP103
- Where
- 2 sites in United States, Brazil
- Volunteers
- 17 people
- Sponsor
- Amgen