Clinical trials: Hereditary Disease
Congenital Heart Defects
Use of Color Doppler in Routine Examination of Fetal Heart in Second Trimester
To evaluate the percentage of severe heart defect diagnosed with the use of color Doppler at a routine fetal scan in the second trimester of pregnancy
- Trial name
- NCT01201486
- Where
- Norway
- Volunteers
- 6,781 people
- Sponsor
- Helse Stavanger HF
Osteogenesis Imperfecta
Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta
The primary objective of this trial is to evaluate the safety of romosozumab in participants with osteogenesis imperfecta (OI) that have completed Study 20200105, regardless of whether they received investigational product…
- Trial name
- NCT07366086
- Testing
- Vitamin D, Calcium
- Where
- 4 sites in United States, Germany and 1 more
- Volunteers
- 71 people
- Sponsor
- Amgen
Molar Incisor Hypomineralization
Three Approaches of Resin Infiltration for MIH Incisor Opacities
Molar incisor hypomineralization (MIH) is a condition which involves enamel hypomineralization of one to four first permanent molars with or without permanent incisors.
- Trial name
- NCT07715370
- Testing
- Resin infiltration, microabrasion, Etch-bleach
- Where
- Egypt
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Li Fraumeni Syndrome
LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome)
The purpose of this study is to compare the diagnostic efficacy of two follow-up schedules for the early detection of cancers in the population under study on cancer incidence at 3 years.
- Trial name
- LIFSCREEN (NCT01464086)
- Testing
- whole body MRI
- Where
- France
- Volunteers
- 107 people
- Sponsor
- Gustave Roussy, Cancer Campus, Grand Paris
Cytomegalovirus Infection
Valganciclovir for Treatment of Cytomegalovirus Infection in Solid Organ Transplant Patients
The objectives of this study were: 1. To demonstrate the efficacy/safety of a short therapeutic strategy of treatment of CMV infection/disease in SOT patients (kidney, liver and heart recipients) based on 21 days of treatment. 2.
- Trial name
- NCT00730769
- Testing
- Single arm (ganciclovir and valganciclovir)
- Where
- Spain
- Volunteers
- 21 people
- Sponsor
- Salvador Gil-Vernet
End Stage Renal Failure, Hemodialysis, Vascular Access
Comparison of Tunneled Cuffed Dialysis Catheters Versus Arteriovenous Fistulae in Elderly or Multimorbid Patients
Patients are randomly assigned to a study group. Depending on the study group, either an arteriovenous fistula or tunneled cuffed catheter (TCC) will be implanted, followed by continuous evaluation of the patients during the…
- Conditions
- End Stage Renal Failure, Hemodialysis, Vascular Access, Fistulas Arteriovenous, Haemodialysis Complication
- Trial name
- NCT07649083
- Testing
- Tunneled cuffed catheter (TCC) will be implanted for chronic haemodialysis treatment, Arteriovenous fistula creation for chronic haemodialysis treatment
- Volunteers
- 220 people
- Sponsor
- Medical University of Vienna
Congenital Adrenal Hyperplasia
Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
This phase III study is an open-label extension study to be conducted at approximately 21 investigational sites across 3 countries.
- Trial name
- NCT05299554
- Testing
- Chronocort
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 76 people
- Sponsor
- Immedica Pharma AB
Psoriasis, Atopic Dermatitis
LANDSCAPE: Demographics and Treatment Patterns of Patients With Immune-Mediated Inflammatory Skin Diseases in Italian Clinical Practice
This multicenter retrospective observational registry study will collect existing clinical data from Italian centers to describe epidemiology, treatment patterns, clinical evolution, safety, and comorbidities in patients aged 12…
- Conditions
- Psoriasis, Atopic Dermatitis, Vitiligo, Alopecia Areata
- Trial name
- LANDSCAPE (NCT07336641)
- Testing
- Conventional Systemic Therapies, Biologic Therapies
- Where
- Italy
- Volunteers
- 20,000 people
- Sponsor
- Fondazione ISIDE
Pulmonary Disease, Chronic Obstructive
Osteoprotegerin (OPG) in Induced Chronic Obstructive Pulmonary Disease (COPD) Sputum
Evaluation of OPG level as disease markers has also been reported. It has been showed that patients with coronary artery disease had higher serum OPG levels than healthy volunteers.
- Trial name
- NCT00655954
- Testing
- Induced sputum
- Where
- United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Behcet Syndrome
Assessment of Disease Activity in Behcet by Complete Blood Count
To determine platelet to lymphocyte ratio (PLR), lymphocytes to monocytes ratio (LMR), mean platelet volume (MPV) and neutrophile lymphocyte ratio (NLR), levels in Behçet's disease (BD) To investigate their correlation with…
- Trial name
- NCT03747354
- Testing
- blood samples
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assiut University
Myotonic Dystrophy 1
Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1
Myotonic Dystrophy type 1 (DM1) is a multisystem disease that causes muscle weakness and myotonia. As a result upper limb function might become impaired.
- Trial name
- SOUL-DM1 (NCT05006924)
- Where
- 3 sites in Norway
- Volunteers
- 89 people
- Sponsor
- Oslo University Hospital
Colorectal Cancer, Hereditary Non-polyposis Colon Cancer
Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer
RATIONALE: The use of a CD-ROM may help patients with colorectal cancer or a family history of colorectal cancer make informed decisions about undergoing microsatellite instability (MSI) testing.
- Trial name
- NCT00450424
- Testing
- counseling intervention, CD-ROM intervention
- Where
- 3 sites in United States
- Volunteers
- 239 people
- Sponsor
- Fox Chase Cancer Center
Cystic Fibrosis, CFTR Gene Mutation
Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies
Cystic Fibrosis, an inherited autosomal recessive disease, arises from mutations in the CFTR gene. For intronic mutations affecting splicing events, oligonucleotides therapy has the potential to restore the production of the full…
- Trial name
- ONB-CFTR (NCT05100823)
- Testing
- Nasal cells sampling, Rectal biopsy sampling
- Where
- France
- Volunteers
- 16 people
- Sponsor
- University Hospital, Montpellier
Class III Malocclusion, Maxillary Deficiency
Evaluation of Pain and Functional Impairments When Treating Class III Malocclusion Using Two Treatment Procedures
A clinical examination of each recalled candidate patient will be carried out at Adib Al Lahham Centre at the Ministry of Health Damascus to ensure that he/she meets the inclusion criteria.
- Trial name
- NCT06877780
- Testing
- RMR with SME, BAIMT with RME
- Where
- Syria
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Damascus University
CLABSI - Central Line Associated Bloodstream Infection, CRBSI - Catheter Related Bloodstream Infection
Neonatal Catheter Lock for Infection Prevention
For newborns admitted to Neonatal Intensive Care Units (NICUs), one of the main risk factors for late-onset sepsis is the presence of a central venous catheter (CVC), which is often essential for the administration of medications…
- Conditions
- CLABSI - Central Line Associated Bloodstream Infection, CRBSI - Catheter Related Bloodstream Infection, Neonatal Sepsis, Late-Onset
- Trial name
- Neo-CLIP (NCT07585188)
- Testing
- Taurolidine 2% lock, Normal saline lock
- Where
- Italy
- Volunteers
- 576 people
- Sponsor
- University of Turin, Italy
Hypomineralization Molar Incisor
Laser Therapy and Flouride Therapy in Desensibilization Hypomineralized Teeth
To investigate the efficacy of laser therapy associated with fluorotherapy in the desensibitization of hypomineralized teeth in children 8 to 12 years of age. A randomized blinded clinical trial will be conducted.
- Trial name
- LTAFTIDHT (NCT03823170)
- Testing
- Laser therapy, Fluorotherapy, Laser therapy and Fluorotherapy
- Where
- Brazil
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Universidade Ceuma
Dental Caries Extending to Pulp, Molar Incisor Hypomineralization
Vital Pulp Therapy in Carious Teeth With Hypomineralization
Vital pulp therapy (VPT) is a general term for multiple procedures (indirect pulp cap, direct pulp cap and pulpotomy) all directed toward preserving pulp vitality and enable complete root development in immature teeth.
- Trial name
- NCT03735069
- Testing
- IPT (Indirect pulp treatment), Cvek/partial pulpotomy, Cervical pulpotomy
- Where
- Jordan
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Jordan University of Science and Technology
Sickle Cell Disease
Spectralis HRA+OCT Imaging of the Retina With Autofluorescence in Sickle Cell Disease
To determine the retinal and choroidal thickness in patients with sickle cell disease compared to age, race matched population without sickle cell disease to allow a better understanding of the clinical manifestations of sickle…
- Trial name
- NCT01123369
- Where
- 2 sites in United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Medical University of South Carolina
Atopic Dermatitis
Comprehensive Investigation of Heart Rate Variability as a Measure of the Autonomic Nervous System in Atopic Dermatitis
The purpose of this research is to study heart rate patterns in people with moderate to severe atopic dermatitis and how itching affects those patterns.
- Trial name
- NCT00691366
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Wake Forest University
Chronic Eczema, Psoriasis
Revitalization of Damaged Skin Due to Chronic Skin Diseases
Chronic skin disease lead to skin damage and disfiguring to the patient skin. Sometimes, achieving normal skin is not possible by the normal traditional treatment, this study is focusing on use of ACE CSD formula which is mixture…
- Conditions
- Chronic Eczema, Psoriasis, Atopic Dermatitis
- Trial name
- NCT03485560
- Testing
- ACE CSD
- Where
- 2 sites in Serbia, United Kingdom
- Volunteers
- 200 people
- Sponsor
- Ace Cells Lab Limited