Clinical trials: Genetic Conditions
Gout, Hyperuricemia
Open Label PK, PD and DDI of Dotinurad and Allopurinol in Gout Patients With Hyperuricemia
A open label multi-center 3-period multidose, PK/PD and drug-drug interaction (DDI) study to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of 7 days of treatment with two doses of dotinurad monotherapy, and to…
- Trial name
- NCT06056570
- Testing
- dotinurad, dotinurad + allopurinol, allopurinol
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Urica Therapeutics Inc.
Alpha 1-Antitrypsin Deficiency
The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency
The objective of this study is to prospectively assess whether there is any interval between first symptom and initial diagnosis that is experienced by patients with newly diagnosed alpha-1 antitrypsin deficiency (AATD) and then…
- Trial name
- NCT03039335
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- Biocerna LLC
Hyperuricemia, Gout
Study 102: Multiple Ascending Dose Study of ALLN-346 (Engineered Urate Oxidase)
The purpose of this Phase I study is to evaluate the safety and tolerability of ALLN-346 in in normal healthy volunteers, in an ascending dose design.
- Trial name
- MAD (NCT04829435)
- Testing
- ALLN-346
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Allena Pharmaceuticals
Chronic Obstructive Pulmonary Disease, Alpha1-antitrypsin Deficiency
ARALAST NP Alpha-1 Lung Density Chronic Obstructive Pulmonary Disease-Emphysema (COPD-E) Study
The purpose of this study is to evaluate the efficacy of ARALAST NP A1PI augmentation therapy 120 milligrams per kilogram (mg/kg) body weight (BW)/week compared with an external placebo comparator on the loss of emphysematous…
- Trial name
- NCT04440488
- Testing
- ARALAST NP
- Sponsor
- Shire
Homozygous Familial Hypercholesterolemia (HoFH)
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501
This long-term observational study is designed to follow subjects who, during another Clinical Study, received gene therapy treatment used to treat their Homozygous Familial Hypercholesterolemia (HoFH) disease.
- Trial name
- NCT04080050
- Testing
- Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy
- Where
- 6 sites in United States, Canada and 1 more
- Volunteers
- 8 people
- Sponsor
- REGENXBIO Inc.
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Breast Neoplasms, Neoplasm Metastasis
A Study of Tersolisib (LY4064809/STX-478) With Other Anti-Cancer Treatments in Participants With Advanced Breast Cancer With a Genetic Change (PIK3CA)
The purpose of the study is to assess the efficacy and safety of the addition of Tersolisib (LY4064809/STX-478) to other anti-cancer drugs as first treatment for advanced hormone receptor-positive (HR+)/human epidermal growth…
- Trial name
- NCT07174336
- Testing
- LY4064809, Ribociclib, Palbociclib
- Where
- 363 sites in United States, Argentina and 17 more
- Volunteers
- 800 people
- Sponsor
- Eli Lilly and Company
Gout, Hyperuricemia
Post-Authorisation Safety Study of Lesinurad
Non-interventional population-based prospective cohort study in multiple databases comparing patients with gout who initiate lesinurad in combination with an existing xanthine oxidase inhibitor (XOI) (lesinurad+XOI cohort) to a…
- Trial name
- SATURATES (NCT04072471)
- Testing
- Zurampic®, Control group: xanthine oxidase inhibitor monotherapy
- Sponsor
- AstraZeneca
All Diagnosed Health Conditions, ADD/ADHD
At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions
We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research.
- Conditions
- All Diagnosed Health Conditions, ADD/ADHD, Alopecia Areata, Ankylosing Spondylitis
- Trial name
- NCT01931644
- Where
- United States
- Volunteers
- 17,667 people, healthy volunteers welcome
- Sponsor
- Sanguine Biosciences
Prostatic Neoplasm
A Phase 1a/1b Study to Evaluate the Safety of EZN-4176, in Adult Patients With Castration-Resistant Prostate Cancer
This study will evaluate an experimental drug called EZN-4176 to determine the anticancer effects when it is given to patients with an advanced form of prostate cancer called castration-resistant prostate cancer (CRPC).
- Trial name
- NCT01337518
- Testing
- EZN-4176
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 150 people
- Sponsor
- Enzon Pharmaceuticals, Inc.
Cardiac Diseases, Muscular Weakness
Biomarker for Pompe Disease (BioPompe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Pompe disease from blood (plasma)
- Conditions
- Cardiac Diseases, Muscular Weakness, Hepato-splenomegaly, Lung Disease
- Trial name
- BioPompe (NCT01457443)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Alpha 1-Antitrypsin Deficiency
Pharmacokinetic Study of ARALAST (Human Alpha1- PI)
The primary purpose of this study is to characterize the pharmacokinetic profile of intravenous Aralast Fraction (Fr.) IV-1, a sterile, stable, lyophilized preparation of functionally intact human Alpha1- Proteinase Inhibitor…
- Trial name
- NCT00242385
- Testing
- Dose of 60 mg/kg Fraction IV-1 Alpha1-Proteinase Inhibitor, Dose of 60 mg/kg alpha1-proteinase inhibitor
- Where
- 7 sites in Australia, New Zealand
- Volunteers
- 25 people
- Sponsor
- Baxalta now part of Shire
Pompe Disease
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07750990
- Testing
- S-606001, ERT
- Volunteers
- 60 people
- Sponsor
- Shionogi
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
The purpose of this Phase 2b study is to evaluate the safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.
- Conditions
- Retinitis Pigmentosa (RP), Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- LUNA (NCT06627179)
- Testing
- Intravitreal Injection of Ultevursen, No intervention, will not receive any active study intervention
- Where
- 26 sites in United States, Belgium and 8 more
- Volunteers
- 81 people
- Sponsor
- Laboratoires Thea
Prostate Cancer
An Open Label Prostate Cancer Study in Japanese Patients
The primary aim of study is to gain an initial assessment of safety and tolerability of AZD3514 in Japanese patients together with assessing Pharmacokinetics (PK) and gaining a preliminary assessment of anti-tumour action.
- Trial name
- NCT01351688
- Testing
- AZD3514
- Where
- 2 sites in Japan
- Volunteers
- 13 people
- Sponsor
- AstraZeneca
Haemophilia A, Haemophilia B
Post-marketing Surveillance (Special Use-results Surveillance) on Treatment With Alhemo
The purpose of the study is to investigate the safety and effectiveness of Alhemo in participants under real-world clinical practice in Japan. Total duration of this study is about 6 years.
- Trial name
- NCT06831734
- Testing
- Concizumab
- Where
- 23 sites in Japan
- Volunteers
- 30 people
- Sponsor
- Novo Nordisk A/S
Pro-opiomelanocortin (POMC) Deficiency Obesity
Setmelanotide for the Treatment of Early-Onset Pro-Opiomelanocortin (POMC) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with pro-opiomelanocortin (POMC) deficiency or proprotein convertase subtilisin/kexin type…
- Trial name
- NCT02896192
- Testing
- Setmelanotide
- Where
- 7 sites in United States, Belgium and 5 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Polyneuropathy, Amyloid, Neuropathic Pain
Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)
An International, multicenter, epidemiological observational study investigating the prevalence of Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR-FAP) in participants with small fiber polyneuropathy of no obvious…
- Conditions
- Polyneuropathy, Amyloid, Neuropathic Pain, Cardiac Failure, Orthostatic Hypotension
- Trial name
- TRAP2-1 (NCT01705626)
- Where
- 11 sites in Austria, Hungary and 4 more
- Volunteers
- 500 people
- Sponsor
- CENTOGENE GmbH Rostock
Pruritus, Atopic Dermatitis
Study to Evaluate the Efficacy and Safety of Oral Difelikefalin as Adjunct Therapy to a Topical Corticosteroid for Moderate to Severe Pruritus in Subjects With Atopic Dermatitis
This is a two-part, multicenter, randomized, double-blind study to evaluate the efficacy and safety of oral difelikefalin as adjunct therapy to a topical corticosteroid (TCS) for moderate-to-severe pruritus in adult subjects with…
- Trial name
- KIND-1 (NCT05387707)
- Testing
- difelikefalin 0.25 mg, difelikefalin 0.5 mg, TCS Cream
- Where
- 61 sites in United States
- Volunteers
- 287 people
- Sponsor
- Cara Therapeutics, Inc.
Major Depressive Disorder (MDD, Anxiety Disorder, Generalized
Serotonin Variants & Gut Microbiota in Mental Health
This observational pilot study investigates whether a broad panel of genetic variants relevant to the serotonin pathway (including serotonergic system, methylation cycle, intestinal barrier integrity, and inflammatory response…
- Conditions
- Major Depressive Disorder (MDD, Anxiety Disorder, Generalized, Stress Disorders, Post-Traumatic, Panic Disorder
- Trial name
- NCT07634458
- Testing
- SNP Genotyping and Gut Metagenomics
- Volunteers
- 30 people
- Sponsor
- Neurobiologix