Clinical trials: Marfan Syndrome
Rare Diseases, Marfan Syndrome
Analysis of Muscular Properties in Patients With MFS and EDS
The goal of this observational study is to learn and assess muscle morphological and electromechanical properties in patients affected with Marfan syndrome (MFS) and Ehlers Danlos syndrome (EDS).
- Conditions
- Rare Diseases, Marfan Syndrome, Ehlers-Danlos Syndrome
- Trial name
- MUSCLE (NCT05720923)
- Testing
- Analysis with Ergometer
- Where
- Italy
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
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
Rare Diseases, Thoracic Aortic Aneurysm (TAA)
Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate…
- Conditions
- Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome
- Trial name
- FIBRA (NCT06786754)
- Where
- Italy
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Marfan Syndrome
Towards Optimal Treatment of Marfan Syndrome
The purpose of this study is to determine whether new magnetic resonance imaging techniques can be used as a biomarker of aortic disease severity in patients with Marfan syndrome.
- Trial name
- TOWER (NCT05944614)
- Testing
- Magnetic Resonance imaging (MRI) examination
- Where
- 4 sites in Netherlands
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Aphakia
Artisan Aphakia Lens for the Correction of Aphakia in Children
The purpose of this study is to determine the safety and effectiveness of the Artisan Aphakia Lens in the treatment of aphakia in children.
- Trial name
- NCT01547442
- Testing
- Artisan Aphakia Intraocular Lens
- Where
- 19 sites in United States, Canada
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Ophtec USA
Marfan's Syndrome With Ocular Manifestations, Pseudoexfoliation Syndrome
The Oscillation of Crystalline and Intraocular Lenses
The crystalline lens of the human eye helps to sharpen vision. There can be issues with the support/stability of the lens. This could be seen with the naked eye of an external observer or with the use of a slit lamp.
- Conditions
- Marfan's Syndrome With Ocular Manifestations, Pseudoexfoliation Syndrome, Cataract, Phakodonesis
- Trial name
- NCT04274634
- Where
- 2 sites in United Kingdom
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Anglia Ruskin University
Marfan Syndrome, Ectopia Lentis
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis.
- Trial name
- NCT04319107
- Testing
- ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.
- Where
- France
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
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)
Marfan Syndrome, Loeys-Dietz Syndrome
Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes.
- Conditions
- Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome
- Trial name
- NCT02213484
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Marfan Syndrome, Marfan Related Disorders
Development of a Blood Test for Marfan Syndrome
The objective of this study is to determine whether a simple blood test can be a useful clinical tool for monitoring aortic disease in Marfan syndrome and Marfan-related disorders.
- Conditions
- Marfan Syndrome, Marfan Related Disorders, Control Subjects
- Trial name
- NCT02148900
- Where
- 5 sites in United States
- Volunteers
- 336 people, healthy volunteers welcome
- Sponsor
- Shriners Hospitals for Children
Marfan Syndrome
Clinical Variability in Marfan Syndrome
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely…
- Trial name
- Variarfan (NCT01707563)
- Testing
- skin punch biopsy and molecular biology, fibroblast culture and molecular biology
- Where
- France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Connective Tissue Disease, Dissecting Aneurysm
Study of Heritable Connective Tissue Disorders
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause.
- Conditions
- Connective Tissue Disease, Dissecting Aneurysm, Ehlers Danlos Syndrome, Marfan Syndrome
- Trial name
- NCT00001641
- Where
- United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)