Clinical trials: Genetic Condition, open to volunteers
Epidermolysis Bullosa Simplex, Genodermatosis
A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
The goal of this clinical trial is to Assessing the Efficacy and Safety of Apremilast in Patients > 6 years of age with EB simplex generalized . The main question it aims to answer are: describe efficacity of this treatment.
- Trial name
- EBULO (NCT06509984)
- Testing
- Apremilast treatment
- Where
- 4 sites in France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Cerebral Palsy
Genetic Predisposition in Cerebral Palsy
Cerebral palsy (CP) is a major neurodevelopmental disorder with an estimated prevalence of approximately one in 500 children. It is characterised by permanent developmental disorders of movement and posture, responsible for…
- Trial name
- PREGENE PC (NCT05317234)
- Testing
- Whole-exome sequencing
- Where
- 2 sites in France
- Volunteers
- 250 people
- Sponsor
- Hospices Civils de Lyon
Gaucher Disease Type 1
A Gaucher Disease Gene Therapy Trial With FLT201
This study is a Phase 3, non-randomized, multicenter, efficacy and safety study in adult patients with Gaucher disease Type 1, on stable treatment with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT) for at…
- Trial name
- GALILEO-3 (NCT07223944)
- Testing
- FLT201
- Where
- 32 sites in United States, Argentina and 8 more
- Volunteers
- 45 people
- Sponsor
- Spur Therapeutics
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
A Phase 1 Study of Single and Multiple Ascending Doses of GV-100
This is a first-in-human, multi-part clinical study designed to evaluate the safety, tolerability, pharmacokinetics (PK), food effect, and drug-drug interaction (DDI) potential of GV-100 following oral administration in healthy…
- Trial name
- NCT07788014
- Testing
- GV-100
- Where
- Australia
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Gilva Therapeutics Inc.
Hereditary Multiple Osteochondromas
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and…
- Trial name
- MAMBO (NCT06703736)
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Istituto Ortopedico Rizzoli
Canavan Disease
rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Canavan Disease is a congenital white matter disorder caused by mutations to the gene encoding for aspartoacylase (ASPA). Expression of ASPA is restricted to oligodendrocytes, the sole white matter producing lineage in the brain.
- Trial name
- CAN-GT (NCT04833907)
- Testing
- rAAV-Olig001-ASPA, Levetiracetam, Prednisone
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Myrtelle Inc.
Mucopolysaccharidosis I, Mucopolysaccharidosis II
MPS (RaDiCo Cohort) (RaDiCo-MPS)
The goal of this observational study is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis III, Mucopolysaccharidosis IV
- Trial name
- NCT06036693
- Where
- 23 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Prenatal Disorder
Engaging Patients in Prenatal Genetic Testing Decisions as a Pathway to Improve Obstetric Outcomes
The goal of this study is to ensure that pregnant patients have the resources and support needed to access Prenatal Screening \& Diagnostic Testing (PS\&D) in an informed and evidence-based fashion by developing an innovative…
- Trial name
- OPUS (NCT06382636)
- Testing
- Standard Care, Obstetric Prenatal Genetic Testing Engagement Solution (OPUS) AI Chatbot
- Where
- 3 sites in United States
- Volunteers
- 600 people
- Sponsor
- The Cleveland Clinic
ADPKD
HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive formation of renal cysts which ultimately lead to a loss of renal function.
- Trial name
- HYDRO-PROTECT (NCT05373264)
- Testing
- Hydrochlorothiazide 25 mg
- Where
- 25 sites in Austria, Belgium and 5 more
- Volunteers
- 300 people
- Sponsor
- University Medical Center Groningen
Carcinoma, Non-Small-Cell Lung
National Network Genomic Medicine Lung Cancer, Germany
Registry of the national Network Genomic Medicine Lung Cancer (nNGM), linking data on molecular diagnostics, clinical characteristics, treatment patterns and outcomes of subjects with non-small cell lung cancer (NSCLC) from 23…
- Trial name
- nNGM (NCT05934032)
- Testing
- observational, non-interventional
- Where
- Germany
- Volunteers
- 30,000 people
- Sponsor
- Prof. Dr. Juergen Wolf
Celiac Disease
Celiac Disease Genomic Environmental Microbiome and Metabolomic Study
Celiac disease (CD) is a complex disease caused by eating gluten, a protein contained in wheat, rye, and barley. It is well known that many factors contribute to the development of CD, including the genes that you have and the…
- Trial name
- CDGEMM (NCT02061306)
- Where
- 2 sites in United States, Italy
- Volunteers
- 500 people
- Sponsor
- Massachusetts General Hospital
Infertility, In Vitro Fertilization
Effect of Antioxydant-enriched Media on Blastocyst Euploidy Rates.
One of the most sensible factors in IVF culture conditions is the susceptibility of gametes and embryos to an induced increase in reactive oxidative species (ROS) caused by the artificial environment.
- Trial name
- GX (NCT06261671)
- Testing
- antioxidants-enriched culture medium (Gx)
- Where
- United Arab Emirates
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- ART Fertility Clinics LLC
Cystic Fibrosis, Hypoestrogenism
Estrogen Supplementation and Bone Health in Women With CF
The goal of this study is to learn about the role of estrogen and other hormones in bone development in adolescent and young adult women with cystic fibrosis (CF).
- Trial name
- STURDY (NCT05704036)
- Testing
- Transdermal estrogen, Progesterone
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- Johns Hopkins University
Phenylketonurias
Development of Novel Psychological Assessment Tools and Anxiety Intervention for Phenylketonuria
While previous PKU intervention research has largely focused on pharmacological treatment of elevated Phe levels, the adaptation of evidence-based psychosocial therapy holds promise for addressing cognitive and psychological…
- Trial name
- NCT06560736
- Testing
- Show Me FIRST coping skills intervention
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of Missouri-Columbia
IBS (Irritable Bowel Syndrome), IBS-D (Diarrhea-predominant)
Saccharomyces Boulardii CNCM I-745 in Irritable Bowel Syndrome
This is a double-blind, randomized (group assignment by chance), placebo-controlled, multicenter trial which will be conducted over a 13.5-months period The main objective of the research is to demonstrate the efficacy of…
- Conditions
- IBS (Irritable Bowel Syndrome), IBS-D (Diarrhea-predominant), IBS, Mixed Symptoms
- Trial name
- BoWell Sb252 (NCT07168434)
- Testing
- Saccharomyces Boulardii 250 MG
- Where
- 10 sites in Portugal, Spain
- Volunteers
- 406 people
- Sponsor
- Biocodex
Angelman Syndrome
Natural History Study for Patients With Angelman Syndrome
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world).
- Trial name
- NatHisAngelman (NCT06229769)
- Where
- Belgium
- Volunteers
- 30 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Fabry Disease
Long Duration Holter ECG in Fabry Disease
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients with Fabry disease.
- Trial name
- NCT04440254
- Testing
- Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Friedreich Ataxia
A Study to Learn More About the Long-Term Safety of BIIB141 (Omaveloxolone) in Participants With Friedreich's Ataxia Who Are Prescribed it by Their Own Doctors
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS®. This is a drug available for doctors to prescribe for people with Friedreich's Ataxia, also known as FA.
- Trial name
- NCT06623890
- Testing
- Omaveloxolone
- Where
- 14 sites in United States, Austria and 5 more
- Volunteers
- 300 people
- Sponsor
- Biogen
Polycystic Liver Disease, Autosomal Dominant Polycystic Kidney
A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease
Multicenter trial on the effect of the GnRH analogue leuprorelin on the growth of total liver volume in pre-menopausal women with very severe polycystic liver disease who, despite available therapy, experience growth and are…
- Trial name
- AGAINST-PLD (NCT05478083)
- Testing
- Leuprorelin
- Where
- 2 sites in Netherlands
- Volunteers
- 36 people
- Sponsor
- University Medical Center Groningen
Fragile X Syndrome
Effect of CANnabidiol on Anxiety and GABAergic Function in Individuals With Fragile-X Syndrome
This study focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- CANAX (NCT06261502)
- Testing
- CBD Oral Solution
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- Université de Sherbrooke
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