Clinical trials: Genetic Diseases, Inborn
Leukemia, Juvenile Myelomonocytic, JMML
A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia
This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML).
- Conditions
- Leukemia, Juvenile Myelomonocytic, JMML, JCML, Neurofibromatosis 1
- Trial name
- NCT05849662
- Testing
- Trametinib, Azacitidine, Fludarabine
- Where
- 21 sites in United States
- Volunteers
- 58 people
- Sponsor
- Therapeutic Advances in Childhood Leukemia Consortium
Sickle Cell Disease, Nephropathy
A Study of Mitapivat in Participants With Sickle Cell Disease and Nephropathy
The primary purpose of this study is to evaluate the effect of mitapivat on albumin creatinine ratio (ACR) response in participants with sickle cell disease (SCD) and nephropathy.
- Trial name
- NCT06286046
- Testing
- Mitapivat
- Sponsor
- Agios Pharmaceuticals, Inc.
Dilated Cardiomyopathy
A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
This is a Phase 1 study to determine the safety and efficacy of allogeneic neonatal mesenchymal stromal cells (nMSCs) for the treatment of Dilated Cardiomyopathy.
- Trial name
- NCT06464588
- Testing
- Allogeneic Neonatal mesenchymal stromal cells (nMSCs)
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Emory University
Lactose Intolerance
Effect of a Probiotic Formulation in Adults With Lactose Intolerance and Methanogenic Intestinal Overgrowth
Introduction: Lactose intolerance (LI) is characterized by specific gastrointestinal symptoms following the consumption of dairy products and lactose-containing foods, symptoms that may also be experienced by individuals with…
- Trial name
- LAC L-134/33 (NCT07652827)
- Testing
- Probiotic formulation
- Where
- Chile
- Volunteers
- 22 people
- Sponsor
- Universidad de Concepcion
Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism
Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism
Men with Idiopathic Hypogonadotropic Hypogonadism (IHH) lack a hormone called gonadotropin releasing hormone (GnRH). This hormone is important for starting puberty, maintaining testosterone levels, and fertility.
- Conditions
- Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism, GnRH Deficiency
- Trial name
- NCT00493961
- Testing
- gonadotropin releasing hormone (GnRH)
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Massachusetts General Hospital
Asthma, COPD
Blood Collection From Individuals With Lung Disease for Genetic Studies (Qatar)
This is a research study where researchers are collecting blood to evaluate the genetic characteristics of individuals with chronic lung diseases, including asthma, COPD (chronic obstructive pulmonary disease), interstitial lung…
- Conditions
- Asthma, COPD, Interstitial Lung Disease, Cystic Fibrosis
- Trial name
- Q-BC (NCT00504361)
- Where
- Qatar
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Atopic Dermatitis
Vitamin D Treatment Effect for Atopic Dermatitis in Children
A double-blind study to evaluate the role of human microbiome and vitamin D in the development of atopic dermatitis.
- Trial name
- NCT05523986
- Testing
- Vitamin D
- Where
- Taiwan
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- China Medical University Hospital
Severe Combined Immunodeficiency, X-Linked
Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lack of both cellular and humoral immunity.
- Trial name
- NCT03601286
- Testing
- Lentiviral vector transduced CD34+ cells
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Down Syndrome
Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome
The purpose of this 16-week research study is to determine whether a drug called memantine hydrochloride (memantine) has the potential to help improve memory and other cognitive abilities of young adults with Down syndrome (DS).
- Trial name
- NCT01112683
- Testing
- Memantine
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- University of Colorado, Denver
Atopic Dermatitis
Elidel-Study: Elidel in Patients With Atopic Dermatitis
Atopic dermatitis is a common disease. Emollients and Elidel have both shown to be effective to treat this disease. The research question is, whether the effective component (Elidel) is better than the emollient to improve the…
- Trial name
- NCT00180141
- Testing
- Elidel-Creme
- Where
- Germany
- Volunteers
- 24 people
- Sponsor
- Technische Universität Dresden
Familial Hypercholesterolemia
Cardiovascular Disease in FH Heterozygous
The objective of this project is to establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF, and to know the impact that drug treatment has course in cardiovascular…
- Trial name
- NCT01783405
- Where
- 3 sites in Spain
- Volunteers
- 1,100 people
- Sponsor
- Sociedad Española de Arteriosclerosis
Sickle Cell Disease, Thalassemia
Genes Influencing Iron Overload State
Iron overload, which can be defined operationally as too much iron in the body, develops as a consequence of too many blood transfusions given, or due to genetic defects hereditary hemochromatosis).
- Conditions
- Sickle Cell Disease, Thalassemia, Marrow Aplasia
- Trial name
- NCT01158794
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- St. Jude Children's Research Hospital
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Atopic Dermatitis
Creation of a Shared Medical Decision-making Tool for Atopic Dermatitis
Hypothesis/Objective : Patient-centered health care and shared decision making are key components of increasing importance which are recommended by the French Haute Autorite de Sante (HAS) and World Health Organization (WHO).
- Trial name
- SHADOW (NCT05090982)
- Testing
- Audio recordings during the consultations, Audio recordings during the consultations and test of the shared medical decision-making tool for modification, Audio recordings during the consultations and test of the shared medical decision-making tool for validation
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Acute Coronary Syndrome
Vessel Wall Response of the Bio-Active-stent and Everolimus-Eluting Stent Assessed By Optical Coherence Tomography
The purpose of the trial is to evaluate the completeness of struts coverage and vessel wall response (strut malapposition, neoin-timal formation) to the bio-active-stent (BAS) versus ever-olimus-eluting stent (EES) implanted for…
- Trial name
- BASE-OCT (NCT01080859)
- Testing
- OCT
- Where
- Finland
- Volunteers
- 40 people
- Sponsor
- The Hospital District of Satakunta
Prostate Cancer
Use of β-hydroxy-β-methylbutyrate to Counteract Muscle Loss in Men With Prostate Cancer on Androgen Ablation
This is a study of HMB plus amino acids in older men with prostate cancer starting androgen deprivation therapy (ADT). The investigators hypothesize that the use of this nutritional supplementation will decrease the loss of…
- Trial name
- NCT01607879
- Testing
- Standard of care ADT + (HMB + arginine + glutamine), Standard of care ADT
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Medical College of Wisconsin
Sickle Cell Disease
A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease
The purpose of this study is to determine the correct prasugrel dosage to be given to children with sickle cell disease (SCD).
- Trial name
- Crescent (NCT01476696)
- Testing
- Prasugrel
- Where
- 9 sites in United States
- Volunteers
- 33 people
- Sponsor
- Eli Lilly and Company
Atopic Dermatitis
Study Evaluating the Mechanism of Action of PF-04965842 Monotherapy for Moderate-to-severe Atopic Dermatitis
B7451037 is a randomized, double-blind, placebo-controlled, parallel-group, Phase 2a study to investigate the mechanism of action of PF-04965842 by correlating efficacy outcomes with changes from baseline in key skin and blood…
- Trial name
- JADE MOA (NCT03915496)
- Testing
- PF-04965842 200 mg, PF-04965842 100 mg
- Where
- 11 sites in United States, Canada
- Volunteers
- 46 people
- Sponsor
- Pfizer
Metabolic Syndrome X
Study of Chronic Degenerative Diseases
The prevalence of obesity and type 2 diabetes mellitus (DM) in children have been increasing in parallel at an alarming rate. In particular, the increasing prevalence of type 2 DM is attributable to genetic factors, clinical…
- Trial name
- NCT02495961
- Where
- Mexico
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Asociación Científica Latina A.C.
Uncontrolled Hypertension, Autosomal Dominant Polycystic Kidney Disease
Renal Denervation in ADPKD- RDN-ADPKD Study
RDN-ADPKD is a prospective, randomized (1:1, central randomization), single-center, hypothesis-generating, feasibility study. The purpose of the RDN-ADPKD study is to demonstrate efficacy and document safety of renal denervation…
- Conditions
- Uncontrolled Hypertension, Autosomal Dominant Polycystic Kidney Disease, Renal Denervation
- Trial name
- RDN-ADPKD (NCT05460169)
- Testing
- Renal denervation
- Where
- Germany
- Volunteers
- 44 people
- Sponsor
- University of Erlangen-Nürnberg Medical School