Clinical trials: Congenital Malformation
Neurofibromatosis 1
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1).
- Trial name
- NCT04941027
- Where
- 2 sites in United States
- Volunteers
- 1,046 people
- Sponsor
- Stanford University
Congenital Heart Disease (CHD), Preschool Children
Feasibility Study of Home Cardiac Rehabilitation Program for Postoperative Children With Congenital Heart Disease
This single-arm feasibility study will pilot a home-based cardiac rehabilitation program for preschool children (aged 3 to 7 years) who have undergone corrective surgery for congenital heart disease.
- Conditions
- Congenital Heart Disease (CHD), Preschool Children, Rehabilitation
- Trial name
- NCT07055347
- Testing
- Comprehensive Home-based Cardiac Rehabilitation Program for Postoperative Congenital Heart Disease Patients and Their Caregivers
- Volunteers
- 5 people
- Sponsor
- Sun Yat-sen University
Leukemia, Myelodysplastic Syndromes
S9007, Study of Bone Marrow and Blood Samples From Patients With Leukemia or Other Hematopoietic Cancers
RATIONALE: Studying samples of bone marrow and blood from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Leukemia, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00996047
- Testing
- cytogenetic analysis, fluorescence in situ hybridization
- Where
- 280 sites in United States
- Volunteers
- 3,341 people
- Sponsor
- SWOG Cancer Research Network
Cystic Fibrosis
An Ocular Safety Study of Ivacaftor-Treated Pediatric Patients 11 Years of Age or Younger With Cystic Fibrosis
This study is designed to evaluate the risk of cataracts (lens opacities) and describe the best corrected distance vision (with glasses/contacts for those who wear them) of pediatric patients with Cystic Fibrosis who are 11 years…
- Trial name
- NCT01863238
- Testing
- Ophthalmologic examinations, Ivacaftor Exposed
- Where
- 38 sites in United States
- Volunteers
- 95 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Genetic Disorders
Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
The hypothesis to be tested: After the construction of a database of anthropometric measurements, the system would extract important features of a given facial surface and be able to match it with existing morphometric figures.
- Trial name
- DW-6/2007 (NCT00705055)
- Where
- 2 sites in Israel
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Carmel Medical Center
Sickle Cell Disease
Sickle Cell Anemia WE CARE
This mixed-methods study aims to understand the implementation of a previously tested, efficacious social determinants of health (SDoH) screening and referral intervention in the outpatient pediatric hematology setting…
- Trial name
- SCAWECARE (NCT03716726)
- Testing
- WE CARE SDoH Screening Survey, Family Resource Book, Standard of care
- Where
- United States
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Boston Medical Center
Bardet-Biedl Syndrome
Characterizing the Genotype and Phenotype in Adults With Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS; OMIN #209900) is a rare genetic disorder characterized by six core features: rod-cone dystrophy (retinitis pigmentosa), polydactyly, obesity, genital anomalies, renal anomalies, and learning…
- Trial name
- NCT05400278
- Testing
- No intervention
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- Oslo University Hospital
Atrial Septal Defect (ASD), Patent Foramen Ovale (PFO)
FIH Study With CBSO
The objective of this study is to evaluate the effectiveness and the safety of the intracardiac septal closure device (CBO), as well as the practicability of implantation of this device using the accessories (DS for CBO).
- Trial name
- NCT01960491
- Testing
- Device Closure of Atrial Septal Defect
- Where
- Germany
- Volunteers
- 15 people
- Sponsor
- Carag AG
Endotoxemia, Inflammation
In Vivo Effects of C1-esterase Inhibitor on the Innate Immune Response During Human Endotoxemia
Excessive inflammation is associated with tissue damage caused by over-activation of the innate immune system. This can range from mild disease to extreme conditions such as multiple organ failure (MOF).
- Conditions
- Endotoxemia, Inflammation, Multi Organ Dysfunction Syndrome
- Trial name
- VECTOR (NCT00785018)
- Testing
- C1-esterase inhibitor, Endotoxin administration
- Where
- Netherlands
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Respiratory Distress Syndrome, Newborn, Respiratory Distress Syndrome in Premature Infant
Optimising Breathing Support at Extubation in Very Preterm Infants: A Clinical Study
Many babies born very preterm (<32 weeks of pregnancy) require support to breathe from a breathing machine (mechanical ventilator) via a breathing tube. Although this keeps babies alive, it can damage their lungs.
- Trial name
- PrePAP (NCT07251790)
- Testing
- Pre-extubation continuous positive airway pressure
- Where
- 3 sites in Australia
- Volunteers
- 134 people
- Sponsor
- Murdoch Childrens Research Institute
Hypercholesterolemia, Familial, Dyslipidemias
Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
The clinical Investigation will be performed to compare the safety and effectiveness of the CE certified and established lipoprotein apheresis systems MONET vs. DALI and DIAMED vs.
- Conditions
- Hypercholesterolemia, Familial, Dyslipidemias, Cardiovascular Diseases
- Trial name
- DIAMOND-2018 (NCT03795038)
- Testing
- Lipoprotein Apheresis MONET and DALI, Lipoprotein Apheresis DIAMED and DALI
- Where
- 2 sites in Germany
- Volunteers
- 20 people
- Sponsor
- Fresenius Medical Care Deutschland GmbH
Neurofibromatosis Type 2
Doxycycline in Cutaneous Schwannoma (NF2)
In this research study the investigators want to learn more about an alternate, local treatment for skin schwannomas. Specifically, local doxycycline intra-tumoral injection will be performed as a potential treatment for…
- Trial name
- NCT05521048
- Testing
- Doxycycline Injection [Doxy]
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Massachusetts Eye and Ear Infirmary
Pachyonychia Congenita
A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and Efficacy of QTORIN 3.9% Rapamycin Anhydrous Gel in the Treatment of Pachyonychia Congenita
This study evaluates the safety and efficacy of QTORIN 3.9% rapamycin anhydrous gel in the treatment of adults with Pachyonychia Congenita. This study includes a screening period, baseline period and 6-month treatment period.
- Trial name
- VAPAUS (NCT05180708)
- Testing
- QTORIN 3.9% rapamycin anhydrous gel, Vehicle
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 87 people
- Sponsor
- Palvella Therapeutics, Inc.
Sickle Cell Disease (SCD)
Exploratory Study on Global Reflexology in Sickle Cell Disease
Sickle cell disease (or sickle cell anemia) is the most common genetic disease in France with 586 children screened in 2019. This chronic disease is characterized by the presence of abnormal Hemoglobin (Hb) S and a deformation of…
- Trial name
- REFLEXODREPANO (NCT06619197)
- Testing
- Global reflexology
- Where
- France
- Volunteers
- 30 people
- Sponsor
- Hospices Civils de Lyon
Hypodontia
Frequency of Hypodontia After Chemotherapy in Childhood Cancer Survivors Study
This study aims to provide information on the frequency of hypodontia in children cancer survivors receiving chemotherapy before 4 years of age.Patients who met the eligibility criteria will be given a structured questionnaire to…
- Trial name
- NCT03445026
- Testing
- dental panorama
- Where
- Egypt
- Volunteers
- 144 people
- Sponsor
- Cairo University
Arteriovenous Fistula, Arteriovenous Fistula Stenosis
Randomised Clinical Trial Comparing Drug-coated Balloon to Plain Balloon for All Peripheral AVF Stenosis
To compare the access circuit primary patency after Ranger drug-coated balloon angioplasty of arteriovenous fistula (AVF) stenosis with that after conventional balloon angioplasty
- Conditions
- Arteriovenous Fistula, Arteriovenous Fistula Stenosis, Dialysis Access Malfunction
- Trial name
- RANGER (NCT06553443)
- Testing
- Angioplasty of all peripheral AVF stenosis
- Where
- Singapore
- Volunteers
- 94 people
- Sponsor
- Singapore General Hospital
Primary Immune Deficiency Disorder
Intensive Care Unit and Secondary and Primary Immune Deficiency
Primary immune deficiencies (PID) are characterized by a failure of the immune system that is not explained by any infectious, neoplastic, or iatrogenic cause.
- Trial name
- ICUSPID (NCT02888535)
- Testing
- Internal Medicine consultation
- Where
- France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Caen
Hamstring Muscle Strain, Adult Acquired Flatfoot Deformity
Correlation Between Soft Tissue Displacement and Functional Performance in Orthopedic Patients
The goal of this clinical trial is to investigate the correlations between dynamic soft tissue displacement, mechanical properties, and functional recovery across three studies: biceps femoris long head (BFlh) muscle injury…
- Conditions
- Hamstring Muscle Strain, Adult Acquired Flatfoot Deformity, Ulnar Collateral Ligament Sprain After Reconstruction
- Trial name
- NCT07870408
- Testing
- Nordic Hamstring Exercise Training, Custom Foot Orthoses and Exercise Therapy, Forearm Blood Flow Restriction Training
- Where
- Taiwan
- Volunteers
- 80 people
- Sponsor
- National Taiwan University Hospital
Neurofibromatosis 2
Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients
The purpose of the study is to determine if RAD001 treatment will shrink or slow the growth of the vestibular schwannoma(s) in Neurofibromatosis 2 (NF2) patients.
- Trial name
- AFINF2 (NCT01490476)
- Testing
- RAD001
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hemophilia A
Evaluate Efficacy and Safety of Recombinant Factor VIII （rFVIII）Treatment of Severe or Moderately Severe Hemophilia A
Efficacy, Safety and Pharmacokinetics Study of a rFVIII in Chinese subjects with Hemophilia A.To assess efficacy and safety of rFVIII administered as treatment and as on-demand therapy in adult and adolescent (12-65 years)…
- Trial name
- NCT02930317
- Testing
- Recombinant Factor VIII (50 IU/kg), Recombinant Factor VIII (On-demand treatment)
- Where
- 4 sites in China
- Volunteers
- 60 people
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Co., Ltd.
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