Clinical trials: Genetics
ADPKD, Pain
Somatosensory Phenotyping of ADPKD
Over 60% of patients with ADPKD suffer from pain, mostly in the abdomen, flank and back, often leading to the diagnosis. It is challenging to manage and cure the pain; approximately 39% of patients are not satisfied with their…
- Trial name
- NCT06970028
- Testing
- Quantitative Sensory Testing, Questionnaires regarding pain and quality of life
- Where
- Belgium
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Huntington Disease
Couple and Spouse Caregiver in Huntington's Disease
The objectives are to better document the psychosocial status and needs of caregiver of HD patients and understand the dyad functioning, facing the disease at various stages.
- Trial name
- COCOON (NCT04394767)
- Where
- France
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- University Hospital, Lille
Urea Cycle Disorders, Inborn
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers.
- Trial name
- BPA/Benzoate (NCT02111200)
- Testing
- Sodium Benzoate, Sodium Phenylbutyrate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Haemophilia B
A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Under the Age of 6 Years
The objective of this study was to assess the safety and efficacy of Replenine®-VF in children enrolled in the study, under the age of six years, with severe haemophilia B.
- Trial name
- NCT02263469
- Testing
- Replenine®-VF (High Purity Factor IX)
- Where
- 4 sites in Poland, Ukraine
- Sponsor
- Bio Products Laboratory
Atopic Dermatitis
Phase 2a Study to Evaluate the Efficacy and Safety of MEDI9929 in Adults With Atopic Dermatitis
To assess the efficacy and safety of MEDI9929 in adult subjects with Atopic Dermatitis
- Trial name
- ALLEVIAD (NCT02525094)
- Testing
- MEDI9929
- Where
- 29 sites in United States, Australia and 4 more
- Volunteers
- 113 people
- Sponsor
- MedImmune LLC
Duchenne Muscular Dystrophy
A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)
This study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in…
- Trial name
- NCT06114056
- Testing
- JWK007 Single intravenous infusion administration
- Where
- China
- Volunteers
- 3 people
- Sponsor
- West China Hospital
Primary Ciliary Dyskinesia
The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
The purpose of this study is to determine the effect of a dietary supplement rich in nitric oxide (NO) on nasal nitric oxide and fractional exhaled nitric oxide (FeNO),on ciliary beat frequency assessed by high-speed digital…
- Trial name
- NCT04489472
- Testing
- Beet-it Juice
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- The University of Texas Health Science Center, Houston
Sickle Cell, Sickle Cell Disease
Sickle Cell, Pain and Mediterranean Diet
The goal of this study is to compare pain levels in individuals with Sickle Cell Disease while following the Mediterranean Diet to pain levels while following their usual diet.
- Conditions
- Sickle Cell, Sickle Cell Disease, Sickle Cell Disease Without Crisis, Mediterranean Diet
- Trial name
- MedSCP (NCT06886477)
- Testing
- Mediterranean Diet, Usual Diet
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- University of Illinois at Chicago
Oligospermia, Azoospermia
Genetic Studies Spermatogenic Failure
The proposed study is designed to test the following hypotheses: 1. Mouse autosomal or X-linked genes which are exclusively expressed in mouse spermatogonia are also spermatogonia-specific in human. 2.
- Conditions
- Oligospermia, Azoospermia, Male Infertility
- Trial name
- NCT00548977
- Testing
- Drawing blood to study genetic polymorphism
- Where
- Taiwan
- Volunteers
- 283 people, healthy volunteers welcome
- Sponsor
- National Cheng-Kung University Hospital
Cystic Fibrosis
A Study to Confirm the Long-term Safety and Effectiveness of Kalydeco in Patients With Cystic Fibrosis Who Have an R117H-CFTR Mutation, Including Pediatric Patients
The purpose of this study is to confirm the long-term safety and effectiveness of Kalydeco® (ivacaftor) in US CF patients with the R117H-CFTR mutation <18 years of age and to describe the long-term safety and effectiveness of…
- Trial name
- NCT02722057
- Volunteers
- 368 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Ischemic Congestive Cardiomyopathy, Dilated Cardiomyopathy
Optimizing Left Ventricular Lead To Improve Cardiac Output
The purpose of this study is to determine if optimal lead placement, guided by the largest improvement in aortic flow measured by Doppler will: 1. Improve the way the heart's left ventricle functions 2.
- Conditions
- Ischemic Congestive Cardiomyopathy, Dilated Cardiomyopathy, Congestive Heart Failure
- Trial name
- CARE/VOLCANO (NCT01399801)
- Testing
- Doppler flow measurement, standard implantation of the LV lead
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Ann Marie Chikowski
COPD (Chronic Obstructive Pulmonary Disease), Cystic Fibrosis (CF)
ELECTROVEST: Electro-Stimulation Vibratory Vest for Pulmonary Rehabilitation in Patients With Chronic Respiratory Diseases
This study will evaluate the effectiveness, safety, and tolerability of a novel wearable device, the ELECTROVEST, designed to improve airway clearance in patients with chronic respiratory diseases.
- Conditions
- COPD (Chronic Obstructive Pulmonary Disease), Cystic Fibrosis (CF), Bronchiectasis Adult, Asthma Bronchiale
- Trial name
- Electrovest (NCT07175012)
- Testing
- ELECTROVEST, The Vest® Model 105
- Where
- Spain
- Volunteers
- 21 people
- Sponsor
- Hospitales Universitarios Virgen del Rocío
Wilson Disease
A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
Wilson's disease (WD), also known as Wilson's disease, is a rare autosomal recessive metabolic disorder caused by a mutation of the copper transport ATPase β (ATP7B) gene located on the long arm of chromosome 13 (13q14.3).
- Trial name
- WD (NCT06650319)
- Testing
- LY-M003
- Where
- China
- Volunteers
- 18 people
- Sponsor
- Chaohui Yu
Transfusion Dependent Beta-thalassemia
Effects of Hydroxyurea and Metformin in Transfusion Dependent Beta-Thalassemia
This clinical trial aims to evaluate and compare the effects and safety of hydroxyurea and metformin in transfusion-dependent beta-thalassemia major and correlate responders/non-responders with the single nucleotide polymorphism…
- Trial name
- NCT06606886
- Testing
- Tablet Metformin (Group A), Tablet Hydroxyurea (Group B)
- Where
- Pakistan
- Volunteers
- 96 people
- Sponsor
- Bahria University
Familial Dysautonomia
Pilot Study of Dexmedetomidine Sublingual Film for the Ambulatory Treatment of Hyperadrenergic Autonomic Crisis in Patients With Familial Dysautonomia
This is a pilot open-label study to evaluate the feasibility of conducting a clinical trial using sublingual dexmedetomidine sublingual film to treat hyperadrenergic autonomic crises in patients with Familial Dysautonomia at…
- Trial name
- NCT06128356
- Testing
- Dexmedetomidine Sublingual
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- NYU Langone Health
Atopic Dermatitis
A Multi-center, Randomized, Double-blind, Placebo-controlled, Multiple Ascending Dose Study of the Safety, Tolerability, and Pharmacokinetics of Subcutaneously Delivered ASLAN004 in Adults With Moderate-Severe Atopic Dermatitis
A Phase 1B, multi-center, double-blind, placebo-controlled, randomized, multiple ascending dose (MAD) clinical study is designed to evaluate ASLAN004 versus placebo in patients who have moderate-severe AD.
- Trial name
- NCT04090229
- Testing
- ASLAN004
- Where
- 11 sites in United States, Australia and 1 more
- Volunteers
- 52 people
- Sponsor
- ASLAN Pharmaceuticals
Lennox-Gastaut Syndrome
Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Lennox-Gastaut Syndrome
This Phase 3 trial will enroll participants diagnosed with Lennox-Gastaut Syndrome (LGS) who are still experiencing at least 4 motor seizures involving the trunk or extremities per week, despite ongoing treatment with up to 3…
- Trial name
- NCT02318537
- Testing
- Cannabidiol Oral Solution
- Sponsor
- INSYS Therapeutics Inc
Candidates for BRCA 1/2 Genetic Testing
A Study of the Communication of Genetic Test Results By Telephone: A Multi-Center Study
The overall goal of the proposed research is to evaluate psychosocial and behavioral outcomes (i.e.risks and benefits) of an innovative and efficient delivery model for genetic testing, telephone communication, as an alternative…
- Trial name
- NCT01736345
- Testing
- Genetic Providers, Visual Aids, Post-Disclosure Asessments
- Where
- 5 sites in United States
- Volunteers
- 289 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Duchenne Muscular Dystrophy (DMD)
E-monitoring of PULMonary Function in Patients With Duchenne Muscular Dystrophy at Home"
Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease.
- Trial name
- E-PULMoDMD (NCT05516745)
- Testing
- AioCare spirometer, telerehabiliation of the respiratory system
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Gdansk
Gaucher's Disease Type I, Gaucher's Disease Type III
Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3
Primary Objective: Evaluated the safety and pharmacokinetics of eliglustat in pediatric participants (≥2 to <18 years old). Secondary Objective: Evaluated the efficacy of eliglustat and quality of life in pediatric participants…
- Trial name
- ELIKIDS (NCT03485677)
- Testing
- Eliglustat GZ385660, Imiglucerase GZ437843
- Where
- 21 sites in Argentina, Canada and 8 more
- Volunteers
- 57 people
- Sponsor
- Sanofi