Clinical trials: Congenital Diseases
Advanced Cancer
A Study of WXFL10030390 in Patients With Advanced Solid Tumors or Lymphoma
WXFL10030390 (WX390) is a novel oral small molecular that inhibits phosphoinositide-3 kinase (PI3K) and mammalian target of rapamycin (mTOR) and has demonstrated potent inhibitory effects on multiple human tumor xenografts.
- Trial name
- NCT03730142
- Testing
- WXFL10030390
- Where
- China
- Volunteers
- 82 people
- Sponsor
- Shanghai Jiatan Pharmatech Co., Ltd
DM1, Myotonic Dystrophy 1
Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients
AOC 1001-CS1 is a randomized, double-blind, placebo-controlled, Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple-doses of AOC 1001 Administered Intravenously to…
- Conditions
- DM1, Myotonic Dystrophy 1, Myotonic Dystrophy, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- MARINA (NCT05027269)
- Testing
- AOC 1001
- Where
- 8 sites in United States
- Volunteers
- 39 people
- Sponsor
- Avidity Biosciences, Inc.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy < 18y in Norway: Genotype/Phenotype, Growth, Puberty, Bone Health and Quality of Life.
The study will give a consent based epidemiological overview of Norwegian patients with Duchenne muscular dystrophy younger than 18 years of age. Genotype of the population will be described.
- Trial name
- NCT01963897
- Where
- Norway
- Volunteers
- 73 people
- Sponsor
- Oslo University Hospital
Univentricular Heart, Congenital Heart Disease
Autologous Induced Pluripotent Stem Cells of Cardiac Lineage for Congenital Heart Disease
The goal of this clinical trial is to test the safety of lab-grown heart cells made from stem cells in subjects with congenital heart disease.
- Conditions
- Univentricular Heart, Congenital Heart Disease, Heart Failure NYHA Class III, Heart Failure NYHA Class IV
- Trial name
- NCT05647213
- Testing
- iPSC-CL
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- HeartWorks, Inc.
Thalassemia
T2* in Transfusion Dependant Anemia, MI, LVF, Normal Patients
The purpose of this study is to provide accurate prognostic data linking cardiac complications to myocardial T2* values (A measure of iron levels in the heart using MRI)in patients predisposed to heart iron overload.
- Trial name
- NCT00520559
- Volunteers
- 652 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Thalassemia, Folic Acid Deficiency Anemia
Effect of Folic Acid Supplementation in Pregnant Women Having Thalassaemia Trait
Folic acid supplementation has been recommended for prevention of neural tube defects in pregnancy when taken periconceptionally up to 12 weeks of gestation.
- Trial name
- NCT04310059
- Testing
- Folic acid, Materna
- Volunteers
- 270 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Premature Retinopathy, Pain
The Effect of Ocean Sound In Premature Retinopathy Examination
Purpose: It was planned as a randomized controlled experiment in order to evaluate the effectiveness of the ocean sound on pain, comfort and physiological parameters in the NICU, Retinopathy of Prematurity (ROP) examination.
- Trial name
- NCT05203159
- Testing
- Ocean sound, Routine
- Where
- Turkey (Türkiye)
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Necmettin Erbakan University
Atopic Dermatitis
The Purpose of the Study is to Evaluate the Effect of Ruxolitinib Cream on Itch in Participants With Atopic Dermatitis
The purpose of the study is to evaluate the effect of ruxolitinib cream on itch in participants with Atopic Dermatitis.
- Trial name
- SCRATCH-AD (NCT04839380)
- Testing
- ruxolitinib cream
- Where
- 2 sites in Canada
- Volunteers
- 49 people
- Sponsor
- Incyte Corporation
Arteriovenous Fistula
Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration
To investigate the effect of pre-operative exercise on 1. Hemodynamics in the fistula artery and vein, pre and post AV fistula formation 2. Suitability of cannulation of AV fistula at 8weeks
- Trial name
- NCT03137680
- Testing
- Hand Exercise
- Volunteers
- 40 people
- Sponsor
- Changi General Hospital
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
This is a multicenter Phase 2, multiple dose, dose escalation study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of SPR001 in adult patients with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT03257462
- Testing
- SPR001
- Where
- 9 sites in United States
- Volunteers
- 24 people
- Sponsor
- Spruce Biosciences
Hereditary Cancer-Predisposing Syndrome
Inherited Risk Evaluation Tool (InheRET): Identifying Patients at Increased Risk for Hereditary Disease
This study will evaluate the impact InheRET™, an online family history gathering and risk assessment reporting tool, has on facilitating National Comprehensive Cancer Network(NCCN) guideline compliant referrals for cancer genetic…
- Trial name
- NCT04510896
- Testing
- InheRET, Patient Acceptance, Physician Acceptance Survey
- Where
- 4 sites in United States
- Volunteers
- 2,232 people, healthy volunteers welcome
- Sponsor
- InheRET, Inc
Thyroid Ophthalmopathy
A Study to Evaluate the Efficacy and Safety of HBM9161 on Moderate to Severe Thyroid Eye Disease
Primary Objective: To preliminarily evaluate the efficacy of the treatment regimen of HBM9161 680 mg administered subcutaneously weekly and sequentially every other week for 12 weeks in Chinese patients with active moderate to…
- Trial name
- NCT05015127
- Testing
- HBM9161 680 mg qw by q2w from week 13, HBM9161 680 mg qw by q2w from week 7
- Where
- China
- Volunteers
- 36 people
- Sponsor
- Harbour BioMed (Guangzhou) Co. Ltd.
Heart Disease Congenital Complex
Effect of Postop Steroids on Cardiovascular/Respiratory Function in Neonates Undergoing Cardiopulmonary Bypass
This protocol is designed to offer insight into critical illness related corticosteroid insufficiency and steroid supplementation in neonates undergoing cardiac surgery with cardiopulmonary bypass by administering exogenous…
- Trial name
- NCT01595386
- Testing
- Hydrocortisone, Normal Saline
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Alabama at Birmingham
Hemophilia B
A Phase 1/2 Study of SHP648, an Adeno-Associated Viral Vector for Gene Transfer in Hemophilia B Subjects
The purpose of this study is to evaluate the safety and dose escalation of SHP648 an adeno-associated viral vector for gene transfer in hemophilia B participants.
- Trial name
- NCT04394286
- Testing
- SHP648
- Where
- 2 sites in Spain, Turkey (Türkiye)
- Volunteers
- 2 people
- Sponsor
- Baxalta now part of Shire
Osteopathy, PreTerm Neonate
The Effect of Cranial Osteopathy Intervention in Preterm Babies
There are planing to have 2 groups of premature born cases. Each group will include 15 cases. Participants are need to be 28-37 weeks born and no older than post term 6 weeks. All cases are going to be evaluated.
- Conditions
- Osteopathy, PreTerm Neonate, Sensory Profiles, Colic
- Trial name
- NCT06967870
- Testing
- Osteopathic intervention, Home based exercise education
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Abant Izzet Baysal University
Duchenne Muscular Dystrophy (DMD), Neuromuscular Disorders
Relation Between Muscle Architecture and Functional Ability in Children With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is a progressive X-linked neuromuscular disorder characterized by muscle degeneration, pseudohypertrophy, and declining functional mobility.
- Conditions
- Duchenne Muscular Dystrophy (DMD), Neuromuscular Disorders, Muscle Architecture
- Trial name
- NCT07437378
- Where
- Egypt
- Volunteers
- 26 people
- Sponsor
- Deraya University
Phenylketonuria (PKU)
Iron Supplements Effect on b-Phe Levels in PKU Patients During 3 Years Study
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr).
- Trial name
- ISPEK (NCT06792240)
- Testing
- iron supplementation, control group
- Where
- Italy
- Volunteers
- 84 people
- Sponsor
- ASST Santi Paolo e Carlo
Cystic Fibrosis
PATIENCE Trial: Prospective Algorithm for Treatment of NTM in Cystic Fibrosis
Isolation of nontuberculous mycobacteria (NTM) from the sputum of individuals with CF is an increasingly common finding, and the lack of an evidenced-based approach to treatment of NTM disease has been identified as one of the…
- Trial name
- PATIENCE (NCT02419989)
- Where
- 19 sites in United States
- Volunteers
- 70 people
- Sponsor
- National Jewish Health
Neural Tube Defects, Anemia
Post T-plant Infusion of Allogeneic Cytokine Induced Killer (CIK) Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders
Allogeneic stem cell transplantation (transplant of blood cells from another individual) is a treatment option for patients with myelodysplasia or myeloproliferative Disorders.
- Conditions
- Neural Tube Defects, Anemia, Leukemia, Myeloid, Bone Marrow Transplant Failure
- Trial name
- NCT01392989
- Testing
- CIK cells, Cyclosporine, Mycophenolate Mofetil
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Everett Meyer
Biliary Atresia
Evaluation of Maralixibat in Biliary Atresia Response Post-Kasai
A study to evaluate the efficacy and safety of maralixibat in infants with Biliary Atresia (BA) after Hepatoportoenterostomy (HPE, also known as the Kasai procedure).
- Trial name
- EMBARK (NCT04524390)
- Testing
- Maralixibat
- Where
- 22 sites in United States, China and 6 more
- Volunteers
- 75 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
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