Clinical trials: Genetic Conditions
Huntington Disease
An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196
The primary objective of this study is to provide biological samples from patients with Huntington's disease to allow characterisation of the pharmacological mechanism of action of SEN0014196.
- Trial name
- PADDINGTON (NCT01485952)
- Testing
- SEN0014196 (Low Dose), SEN0014196 (High Dose)
- Where
- Germany
- Volunteers
- 55 people
- Sponsor
- Siena Biotech S.p.A.
Cystic Fibrosis, Pancreatic Insufficiency
Use of Ultrase® MT12 in Young Cystic Fibrosis Children (CF)
Multicenter, explorative, phase IIIb, open-label study to assess the efficacy and safety of Ultrase® MT12, in the control of steatorrhea and clinical signs and symptoms of malabsorption in CF children with pancreatic…
- Trial name
- NCT00880100
- Testing
- Ultrase® MT12
- Where
- 15 sites in United States
- Volunteers
- 49 people
- Sponsor
- Forest Laboratories
Alpha 1-Antitrypsin Deficiency
Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE)
The goal of this trial was to explore the utility of evaluating emphysema progression through CT scans measuring lung density during a 2 year period of weekly infusions of either placebo or human alpha-1-antitrypsin (AAT…
- Trial name
- NCT00263887
- Testing
- Alpha1-Proteinase Inhibitor (Human), Albumin (Human) 20%, United States Pharmacopeia (USP)
- Where
- 3 sites in Denmark, Sweden and 1 more
- Volunteers
- 77 people
- Sponsor
- Grifols Therapeutics LLC
Usher's Syndrome
A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B
Primary Objective: To evaluate the long-term safety and tolerability of SAR421869 in patients with Usher syndrome Type 1B Secondary Objective: To assess long-term safety and biological activity of SAR421869
- Trial name
- NCT02065011
- Testing
- Blood draw for the laboratory assessment
- Where
- 2 sites in United States, France
- Volunteers
- 9 people
- Sponsor
- Sanofi
Atopic Dermatitis
Efficacy and Safety of Pimecrolimus Cream 1% in Patients (2 to 11 Years Old) With Mild to Moderate Facial Atopic Dermatitis
This study is not being conducted in the United States of America (USA). Atopic dermatitis, also called eczema, is characterized by redness, papulation (skin elevation) and pruritus (skin itching).
- Trial name
- NCT00130364
- Testing
- Pimecrolimus
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Novartis
Gout, Hyperuricemia
A Dose Finding Study to Assess Efficacy and Safety of IBI128 in Chinese Gout Subjects
IBI128 (Tigulixostat) is a novel non-purine selective inhibitor of xanthine oxidase (XO). The XO inhibitors lower uric acid concentrations in serum by inhibiting the production of uric acid.
- Trial name
- NCT06501534
- Testing
- Febuxostat, IBI128
- Where
- China
- Volunteers
- 84 people
- Sponsor
- Innovent Biologics (Suzhou) Co. Ltd.
Mucopolysaccharidosis Type II, Metabolic Diseases
A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT06475404
- Testing
- verenafusp alfa 6 mg/kg, verenafusp alfa 9 mg/kg, verenafusp alfa 12 mg/kg
- Where
- Russia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Atopic Dermatitis, Pruritus
B244 Topical Spray for the Treatment of Pruritus in Adults With a History of Atopic Dermatitis
This is a double-blind, randomized, vehicle-controlled study to assess the efficacy, safety, and tolerability of 2 doses of B244 for the treatment of pruritus in adults with a history of atopic dermatitis.
- Trial name
- NCT04490109
- Testing
- B244, Vehicle
- Where
- 56 sites in United States
- Volunteers
- 547 people
- Sponsor
- AOBiome LLC
Alpha1-Antitrypsin Deficiency
An Extension Study to Learn About the Long-Term Safety of Fazirsiran and if Fazirsiran Can Help People With Alpha-1 Antitrypsin Liver Disease
The main aim of this study is to learn if fazirsiran is safe during long-term use in people with liver disease caused by the abnormal Z-alpha-1 antitrypsin (Z-AAT) protein.
- Trial name
- NCT05899673
- Testing
- Fazirsiran Injection
- Where
- 10 sites in United States, Austria and 3 more
- Volunteers
- 31 people
- Sponsor
- Takeda
Alpha 1-Antitrypsin Deficiency
A Study to Evaluate the Safety and Efficacy of BEAM-302 in Adult Patients With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1/2, multicenter, open-label study conducted in 3 parts (Part A, Part B, and Part C) to evaluate the safety, tolerability, PK/PD, and efficacy of BEAM-302 in adult patients with AATD-associated lung disease and/or…
- Trial name
- NCT06389877
- Testing
- BEAM-302
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 192 people
- Sponsor
- Beam Therapeutics Inc.
Pain, Chronic Pain
Observational Study of the Impact of Genetic Testing on Healthcare Decisions and Care in Interventional Pain Management
The purpose of this study is to evaluate the impact of genetic testing on healthcare decisions and patient outcomes in interventional pain management clinical care.
- Conditions
- Pain, Chronic Pain, Back Pain, Nociceptive Pain
- Trial name
- MOSAIC (NCT02485795)
- Testing
- Observational
- Where
- 31 sites in United States
- Volunteers
- 50,000 people
- Sponsor
- Proove Bioscience, Inc.
Gestational Diabetes, Pregnancy Complications
OneinSeven Gestational Diabetes Genetic and Socioeconomic Risk Study
The objective of the Gestational Diabetes Genetic Socioeconomic Risk Study is to generate genome wide association study data (GWAS) to calculate polygenic risk scores (PRS) for the development of gestational diabetes in pregnant…
- Conditions
- Gestational Diabetes, Pregnancy Complications, Pregnancy Related, Genetic Predisposition
- Trial name
- NCT04789473
- Testing
- Polygenic Risk Score Generation
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Prenome
Atopic Dermatitis, Skin Condition
Clinical Study of Partially Hydrolysed Protein Infant Formula on Trans-epidermal Water Loss (TEWL)
This is a single-centre, prospective, randomized, open-label, controlled trial of 200 infants 42±7 days of age. Subjects will be randomized to one of two open label feeding intervention group: Intact Cow's Milk Protein Formula…
- Trial name
- NCT04763512
- Testing
- Intact Cow's Milk Protein Formula, Partially Hydrolysed Whey Formula
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Société des Produits Nestlé (SPN)
Pulmonary Disease, Chronic Obstructive, Amyotrophic Lateral Sclerosis
European Home Mechanical Ventilation Registry
The European Home Mechanical Ventilation Registry (EHMVR) will enable a thorough evaluation of HMV by documenting the characteristics of HMV patients and their treatment.
- Conditions
- Pulmonary Disease, Chronic Obstructive, Amyotrophic Lateral Sclerosis, Spinal Cord Injury, Muscular Dystrophies
- Trial name
- EHMVR (NCT02315339)
- Where
- Germany
- Volunteers
- 37 people
- Sponsor
- ResMed
Renal Fanconi Syndrome, Photophobia
Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood
- Conditions
- Renal Fanconi Syndrome, Photophobia, Hypophosphatemia
- Trial name
- BioCystinosis (NCT02837523)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Atopic Dermatitis, Atopic Dermatitis Eczema
Bioavailability and Tolerability of Fexofenadine Hydrochloride Topical Lotion 1%
The investigational lotion is envisaged as an short- and long term "Ease \& Prevent" monotherapy for adults and children with mild to moderate eczema.
- Conditions
- Atopic Dermatitis, Atopic Dermatitis Eczema, Atopic Rash, Rash
- Trial name
- ATOFEX-1 (NCT05461456)
- Testing
- Fexofenadine Hydrochloride Topical Lotion 1% (OP2101)
- Where
- Bangladesh
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- OrchestratePharma GmbH
Gout
Intensive Urate Lowering Therapy of Febuxostat Compared to Allopurinol on Cardiovascular Risk in Patients With Gout
There is a mounting and clear association between hyperuricaemia, gout and the presence of traditional cardiovascular (CV) risk factors and CV event-equivalent conditions such as chronic kidney disease, metabolic syndrome, and…
- Trial name
- FORWARD (NCT02500641)
- Testing
- Febuxostat 80/120mg/day, Allopurinol 100 up to 600mg/day, Colchicine
- Where
- 26 sites in Germany, Italy and 4 more
- Volunteers
- 196 people
- Sponsor
- Menarini International Operations Luxembourg SA
Cystinosis
Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
Cystinosis is an inherited disease that if untreated, results in kidney failure as early as the first decade of life. The current marketed therapy is Cystagon® (cysteamine bitartrate) which must be taken every six hours for the…
- Trial name
- NCT01000961
- Testing
- Cystagon® (Cysteamine Bitartrate), Cysteamine Bitartrate Delayed-release Capsules (RP103)
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 43 people
- Sponsor
- Amgen
Acute Myelogenous Leukemia, Myelodysplastic Syndrome
Dose Escalation/ Expansion Study of CA-4948 as Monotherapy in Patients With Acute Myelogenous Leukemia (AML) or Myelodysplastic Syndrome (MDS)
This is a multicenter, open-label, Phase 1/2a dose escalation and expansion study of orally administered emavusertib (CA-4948) monotherapy in adult patients with AML or higher- risk Myelodysplastic Syndrome (hrMDS).
- Trial name
- NCT04278768
- Testing
- Emavusertib, Venetoclax
- Where
- 32 sites in United States, Czechia and 6 more
- Volunteers
- 366 people
- Sponsor
- Curis, Inc.
Lymphocytic Leukemia, Chronic, Lymphoma, Small Lymphocytic
Duvelisib With Obinutuzumab in Patients With CLL/SLL Previously Treated With a BTKi (SYNCHRONY)
To evaluate the safety, pharmacokinetics, and pharmacodynamics of Duvelisib (IPI-145) in combination with obinutuzumab in patients with Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma previously treated with a BTKi.
- Trial name
- NCT02292225
- Testing
- IPI-145 (duvelisib), Obinutuzumab
- Where
- 7 sites in United States, Canada
- Volunteers
- 3 people
- Sponsor
- SecuraBio