Clinical trials: Bone Defects
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Creation of an Italian Network of Biobanks of Rare Diseases
ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
Rare diseases (RDs) have been defined by the European Union (EU) as life-threatening or chronically debilitating conditions affecting less than 1 person in 2000.
- Trial name
- SATELLITES (NCT06782230)
- Where
- Italy
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
RASopathy, Costello Syndrome
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
Costello syndrome (CS) and cardio-facio cutaneous syndrome (CFCS) belongs to RASopathies, a group of multisystemic disorders caused by unregulated signalling through the RAS/MAPK pathway, an intracellular signalling pathway…
- Conditions
- RASopathy, Costello Syndrome, Noonan Syndrome, Cardio-Facio-Cutaneous Syndrome
- Trial name
- 3776 (NCT06331117)
- Testing
- Diagnostic test
- Where
- Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Marfan Syndrome
Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome
The purpose of this study is to evaluate if losartan limits aortic dilatation in patients with Marfan syndrome.
- Trial name
- MARFANSARTAN (NCT00763893)
- Testing
- Losartan
- Where
- France
- Volunteers
- 303 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated
National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data.
- Conditions
- Cardiomyopathy, Hypertrophic, Cardiomyopathy, Dilated, Cardiomyopathy Restrictive, Arrhythmogenic Right Ventricular Dysplasia
- Trial name
- RENOMICA-Hcor (NCT06546137)
- Testing
- whole genome sequencing
- Where
- 27 sites in Brazil
- Volunteers
- 1,211 people
- Sponsor
- Hospital do Coracao
Tibial Fractures
Results of Cross-leg Free Vascularized Fibular Graft
This study aims to evaluate the new technique of cross-leg vascularized fibular graft for reconstruction of post-traumatic long tibial bone defects in terms of restoring normal anatomy and function of the traumatized limb in a…
- Trial name
- NCT06491316
- Where
- Egypt
- Volunteers
- 22 people
- Sponsor
- Assiut University
Pregnancy Complication, Aortic Dissection
PregnAncy-Related Aortic DISsEction in China
A multicenter observational study on pregnancy-related aortic dissection
- Conditions
- Pregnancy Complication, Aortic Dissection, Marfan Syndrome, Loeys-Dietz Syndrome
- Trial name
- PARADISE (NCT07672210)
- Testing
- Intervention strategies including medication or surgery
- Where
- 4 sites in China
- Volunteers
- 500 people
- Sponsor
- DeltaHealth Hospital · Shanghai
Bone Loss, Bone Defects
Evaluation of the Safety, Feasibility, and Early Clinical Outcomes of Patient-Specific Bone Defect Implants Fabricated From Titanium Alloy (Ti-6Al-4V) Using 3D Printing Technology
The goal of this clinical trial is to evaluate the safety and feasibility of patient-specific bone defect implants fabricated from Ti-6Al-4V using 3D printing technology and to assess early clinical outcomes within the first 12…
- Trial name
- NCT07540156
- Testing
- Patient-specific 3D-printed Ti-6Al-4V bone implant
- Where
- Vietnam
- Volunteers
- 10 people
- Sponsor
- VinUniversity
Sickle Cell Disease, Thalassemia
Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
This is a clinical trial of bone marrow transplantation for patients with the diagnosis of a genetic disease of blood cells that do not have an HLA-matched sibling donor.
- Conditions
- Sickle Cell Disease, Thalassemia, Anemia, Granuloma
- Trial name
- NCT00730314
- Testing
- Hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Children's Hospital Los Angeles
Increased Lordosis/Scoliosis, Hyporeflexia
Biomarker for Duchenne Muscular Dystrophy
International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.
- Conditions
- Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy, Red-Green Color Blindness
- Trial name
- BioDuchenne (NCT02994030)
- Where
- 12 sites in Albania, Egypt and 6 more
- Volunteers
- 103 people
- Sponsor
- CENTOGENE GmbH Rostock
Marfan Syndrome
Comparison of Medical Therapies in Marfan Syndrome.
The investigators are looking at the different impacts of atenolol, verapamil and perindopril on large artery and lv function in marfan syndrome. It is a double-blind, randomised cross-over trial.
- Trial name
- NCT01295047
- Testing
- Atenolol, VERAPAMIL, Perindopril
- Where
- United Kingdom
- Volunteers
- 18 people
- Sponsor
- Cardiff University
Turner Syndrome, Isolated Growth Hormone Deficiency
Neuropsychological Assessment of Children and Adolescents With Turner Syndrome
Turner syndrome (TS) is a rare chromosomal disorder characterized by partial or complete loss of one of the X chromosomes that affects about one in every 2000 female babies born.
- Conditions
- Turner Syndrome, Isolated Growth Hormone Deficiency, Cognitive Functions, Social Cognition
- Trial name
- ENEAST (NCT03812913)
- Testing
- psychological evaluation
- Where
- 3 sites in France
- Volunteers
- 70 people
- Sponsor
- University Hospital, Angers
Periodontitis
Evaluation of Advanced PRF Combined With Nano-crystalline Hydroxyapatite for Management of Grade II Furcation Defects
this study is to evaluate the use of advanced platelet rich fibrin (A-PRF) + nano-crystalline hydroxyapatite bone substitute combined with open flap debridement (OPD) versus open flap debridement alone in the management of…
- Trial name
- NCT03804086
- Testing
- Advanced PRF (A-PRF) + nano-crystalline hydroxyapatite bone substitute combined with open flap debridement, Open flap debridement
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Hadeer Ashraf Hassan Roushdy
Ehlers-Danlos Syndrome, Stickler Syndrome
Studies of Heritable Disorders of Connective Tissue
Background: Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for building tissues.
- Conditions
- Ehlers-Danlos Syndrome, Stickler Syndrome, Marfan Syndrome
- Trial name
- NCT00270686
- Where
- United States
- Volunteers
- 929 people, healthy volunteers welcome
- Sponsor
- National Institute on Aging (NIA)
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University
Cartilage Loss, Microfracture
Effects of Unloader Bracing in Clinical Outcome and Cartilage Physiology Following Microfracture of Chondral Defects
The study will examine clinical and radiographic outcomes of microfracture surgery (a common technique to address isolated areas of cartilage loss) in the knee used with or without unloader bracing.
- Trial name
- Mfxbracing (NCT02016300)
- Testing
- Unloader Bracing, Non-Bracing
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Stanford University
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Large Bone Defects
Repair of the Large Bone Defects Through 3D Printed Individualized Porous Implant
The aim of this study was to investigate the simply use of three-dimensional (3D) printed individualized porous implants in the absence of autogenous/allogeneic bone graft or any osteoinductive agents to treat the large bone…
- Trial name
- NCT04466397
- Testing
- 3D printed individualized porous implants
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Peking University Third Hospital
Defect of Articular Cartilage, Osteoarthritis
Comparison of Efficacy and Safety of Microfracture and Modified Microfracture
This study was designed to evaluate the efficacy and safety of a modified microfracture using collagen, and to compare them with those of a simple microfracture to prove the non-inferiority of the modified microfracture using…
- Conditions
- Defect of Articular Cartilage, Osteoarthritis, Traumatic Arthritis
- Trial name
- NCT02539030
- Testing
- Microfracture, CartiFill
- Where
- 12 sites in South Korea
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Cellontech Co., Ltd.
Marfan Syndrome, FBN1 Mutation
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular systems.
- Trial name
- GEMS (NCT06257004)
- Testing
- Saliva collection (screening of all participants), Bloodsampling
- Where
- Belgium
- Volunteers
- 200 people
- Sponsor
- University Hospital, Antwerp