Clinical trials: Genetics, open to volunteers
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
This is a single-site open label non-randomized study comparing effects of sequential versus continuous use of progesterone supplementation amongst Turner Syndrome (TS) patients with primary ovarian insufficiency (POI) prescribed…
- Trial name
- BOOST (NCT06834594)
- Testing
- Micronized progesterone 200 MG, Micronized Progesterone 100 MG
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Metastatic Castrate Resistant Prostate Cancer, BARD1, BRCA1, BRCA2, BRIP1, CHEK1, FANCL, PALB2
Carboplatin or Olaparib for BRcA Deficient Prostate Cancer
This is an unblinded, randomized clinical study comparing the efficacy of DNA damaging chemotherapy using carboplatin, to standard of care therapy for patients who have metastatic castrate resistant prostate cancer.
- Conditions
- Metastatic Castrate Resistant Prostate Cancer, BARD1, BRCA1, BRCA2, BRIP1, CHEK1, FANCL, PALB2, RAD51B, RAD51C, RAD51D, or RAD54L Mutations
- Trial name
- COBRA (NCT04038502)
- Testing
- Carboplatin, Olaparib
- Where
- 18 sites in United States
- Volunteers
- 100 people
- Sponsor
- VA Office of Research and Development
Gaucher Disease Type I, Oxidative Stress
Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease
The objective of this study is to evaluate oxidative stress and/or inflammation in patients with Gaucher disease type I using a series of biomarkers and correlate with measurements of currently used diagnostic biomarkers.
- Conditions
- Gaucher Disease Type I, Oxidative Stress, Inflammation
- Trial name
- NCT02437396
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- University of Minnesota
Haemophilia
Determinants and Consequences of the Transition to Adulthood for Adolescents With Severe Haemophilia: TRANSHEMO 2, an Ancillary Study to the TRANSHEMO Project
Haemophilia is a rare genetic disorder which, in its severe form and in the absence of treatment, can be life-threatening. Since the 1960s and the introduction of coagulation factor concentrates, the life expectancy of people…
- Trial name
- TRANSHEMO2 (NCT07418827)
- Testing
- questionnaires
- Where
- 25 sites in France
- Volunteers
- 75 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Systemic Amyloidosis, ATTR Amyloidosis
Hungarian National Systemic Amyloidosis Registry
This registry is an observational, multicenter, retrospective and prospective, non-pharmacological study designed to collect and analyze data from patients with systemic amyloidosis treated in inpatient and outpatient cardiology…
- Conditions
- Systemic Amyloidosis, ATTR Amyloidosis, AL Amyloidosis, Amyloid Cardiomyopathy
- Trial name
- AMYREG (NCT07689331)
- Where
- 12 sites in Hungary
- Volunteers
- 300 people
- Sponsor
- Semmelweis University
Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and…
- Trial name
- cureMILS (NCT06967831)
- Testing
- skin biopsy, generation of iPSCs, blood drawing
- Where
- 2 sites in Germany
- Volunteers
- 80 people
- Sponsor
- Charite University, Berlin, Germany
Hemophilia A
Nuwiq Dosing and Outcomes In the ManagEment of Women/Girls With Haemophilia A Needing FVIII Treatment for Surgery
Recombinant factor VIII for the prevention of bleeding in women/girls with haemophilia A undergoing major surgery
- Trial name
- NCT05936580
- Testing
- Nuwiq
- Where
- 16 sites in United States, Finland and 8 more
- Volunteers
- 28 people
- Sponsor
- Octapharma
Sickle Cell Disease
A Phase I/II Study of ITU512 in Healthy Participants and Patients With Sickle Cell Disease
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and preliminary food effect of ITU512 as well as the fetal hemoglobin (HbF)-inducing capacity of ITU512.
- Trial name
- NCT06546670
- Testing
- ITU512
- Where
- 14 sites in United States, Brazil and 1 more
- Volunteers
- 161 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
NASH, HCC
Evaluation of Risk of hEpatocellular Carcinoma
Hepatocellular carcinoma (HCC) is the fifth most common solid cancer and the second cause of cancer-related mortality worldwide.
- Conditions
- NASH, HCC, Genetic Predisposition
- Trial name
- PERSPECTIVE (NCT06523179)
- Testing
- quantify the impact of genetic risk factors
- Where
- Italy
- Volunteers
- 500 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Vascular Ehlers Danlos Syndrome
An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Vascular Ehlers-Danlos syndrome (vEDS) is a rare, life-threatening connective tissue disorder. People with vEDS have often been advised to limit physical activity, yet the safety and feasibility of structured exercise in this…
- Trial name
- NCT07697573
- Testing
- Co-designed exercise-based lifestyle intervention
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- Sheffield Hallam University
Chronic Myeloid Leukemia (CML), Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive
A Randomized Study of ELVN-001 Versus Investigator-Selected TKI, in CP-CML Previously Treated With One or More TKIs
The study is designed to compare the efficacy of ELVN-001 versus Investigator-selected tyrosine kinase inhibitor (TKI) for adults with previously treated chronic myeloid leukemia in the chronic phase (CP-CML).
- Conditions
- Chronic Myeloid Leukemia (CML), Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive, Chronic Phase Chronic Myeloid Leukemia, BCR::ABL1 Positive CML
- Trial name
- ENABLE-2 (NCT07905183)
- Testing
- ELVN-001, TKI
- Volunteers
- 450 people
- Sponsor
- Enliven Therapeutics
Diabetes Mellitus, Type 2, Genetics
Phenotyping Genetic Risk for Type 2 Diabetes
This study tests the hypothesis that non-diabetic individuals with a high genetic risk score for type 2 diabetes have impaired glucose tolerance and insulin resistance compared to those with a low genetic risk score for type 2…
- Trial name
- NCT04024631
- Testing
- 75g glucose beverage (Glucola, Trutol, or similar brand), DXA, whole body
- Where
- 2 sites in United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Propionic Acidemia
Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
This 3-part, Phase 1/2 study is designed to characterize the safety, tolerability, and pharmacological activity (as assessed by biomarker measurements) and to determine the selected dose of mRNA-3927 in participants with…
- Trial name
- NCT04159103
- Testing
- mRNA-3927
- Where
- 35 sites in United States, Canada and 6 more
- Volunteers
- 77 people
- Sponsor
- ModernaTX, Inc.
Factor VII Deficiency
A Phase II Exploratory Study of SR604 Injection Evaluating the Safety and Efficacy in the Treatment of Congenital Coagulation Factor VII Deficiency
This is an open-label, multicenter, exploratory Phase II clinical trial designed to evaluate the efficacy, safety, and pharmacokinetic characteristics of SR604 Injection in patients with congenital coagulation Factor VII…
- Trial name
- NCT07711158
- Testing
- SR604
- Where
- China
- Volunteers
- 12 people
- Sponsor
- Shanghai RAAS Blood Products Co., Ltd.
Pompe Disease
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
- Trial name
- NCT07123155
- Testing
- S-606001
- Where
- 28 sites in United States, Belgium and 7 more
- Volunteers
- 45 people
- Sponsor
- Shionogi
Heart Failure, Ischemic Heart Failure
Endocardial Delivery for Myocardial Regeneration Using Allogeneic iPSC-derived Cardiomyocyte Spheroids for HF With Systolic Dysfunction (EMERALD Study)
The purpose of this clinical study is to evaluate the safety and efficacy of endocardial delivery of HS-001 CS into severe heart failure patients with reduced ejection fraction for 26 weeks after transplantation.
- Conditions
- Heart Failure, Ischemic Heart Failure, Ischemic Heart Disease, Dilated Cardiomyopathy (DCM)
- Trial name
- EMERALD (NCT07347197)
- Testing
- HS-005
- Where
- 5 sites in Japan
- Volunteers
- 14 people
- Sponsor
- Heartseed Inc.
Heart Failure, Dilated Cardiomyopathy (DCM)
UIC Multi-Ethnic DCM Registry
Dilated cardiomyopathy (DCM), a condition where the heart loses its ability to pump blood throughout the body, is a common cause of death in the United States (US).
- Trial name
- NCT07145138
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Obesity, Childhood, Genetic Disease
Genetic Disorders of Obesity Program Database
This study collects data on children with severe, early-onset obesity.
- Trial name
- GDOP (NCT05747976)
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Baylor College of Medicine
Rare Diseases, Genetic Disease
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology.
- Trial name
- ORIGIN (NCT05499091)
- Testing
- Skin biopsy, blood sample, urine sample
- Where
- France
- Volunteers
- 1,200 people
- Sponsor
- University Hospital, Angers
Friedreich Ataxia
A Multiple Ascending Dose Study of DT-216P2 in Patients With Friedreich's Ataxia
The purpose of this study is to evaluate the safety and tolerability, and pharmacokinetics of DT-216P2 administered multiple ascending doses in patients with FA.
- Trial name
- NCT06874010
- Testing
- DT-216P2
- Where
- 3 sites in Australia
- Volunteers
- 20 people
- Sponsor
- Design Therapeutics, Inc.
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