Clinical trials: Lymphatic Malformations
Hereditary Hemorrhagic Telangiectasia
Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
This study is one of the three projects of an NIH Rare Disease Clinical Research Consortium. A "consortium" is a group of centres sharing information and resources to perform research.
- Trial name
- BVMC6203 (NCT01158807)
- Where
- 19 sites in United States, Canada and 1 more
- Volunteers
- 2,272 people
- Sponsor
- Unity Health Toronto
Hereditary Hemorrhagic Telangiectasia
Ultra-low-dose Chest CT for HHT
This study aims to develop a novel ultra-low dose chest CT technology for use in Hereditary Hemorrhagic Teleangiectasia (HHT) patients and to determine the lowest possible radiation dose that is achievable without sacrificing the…
- Trial name
- NCT04874558
- Testing
- Ultra-low dose chest CT
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Mayo Clinic
Tuberous Sclerosis, Lymphangioleiomyomatosis
TSC Biosample Repository and Natural History Database
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.
- Trial name
- NCT05676099
- Testing
- Phlebotomy, Buccal (cheek) swab, Genetic Testing
- Where
- 26 sites in United States, Canada
- Volunteers
- 5,000 people
- Sponsor
- National Tuberous Sclerosis Association
Hereditary Hemorrhagic Telangiectasia
Cardiac Evaluation in Hereditary Hemorrhagic Telangiectasia
Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease associated with mutations in genes encoding proteins of the transforming growth factor β (TGF-β) family, i.e.
- Trial name
- CARDI-HHT (NCT07101575)
- Testing
- Transthoracic echocardiography
- Volunteers
- 380 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Cavernous Angioma, Familial, Cerebral Cavernous Malformations
Modifiers of Disease Severity in Cerebral Cavernous Malformations
Cerebral cavernous malformations (CCMs) are clusters of abnormal blood vessels in the brain and spine. CCMs can bleed and cause strokes, seizures, and headaches.
- Conditions
- Cavernous Angioma, Familial, Cerebral Cavernous Malformations, Cerebral Cavernous Hemangioma
- Trial name
- NCT01764529
- Where
- 7 sites in United States
- Volunteers
- 789 people
- Sponsor
- University of California, San Francisco
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Cognitive Remediation in 22q11DS
The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS).
- Trial name
- NCT01781923
- Testing
- Cognitive remediation program, Small group social skills training
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Duke University
Hereditary Haemorrhagic Telangiectasia, Pulmonary Arteriovenous Malformation
Pulmonary Arteriovenous Malformations (PAVMs) in Hereditary Haemorrhagic Telangiectasia (HHT)
Computed tomography (CT) is the modality of choice to characterize pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT).
- Conditions
- Hereditary Haemorrhagic Telangiectasia, Pulmonary Arteriovenous Malformation, Cerebral Disorder
- Trial name
- PAVM (NCT03940014)
- Testing
- Data collection from standard follow up
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
Autism Spectrum Disorders
Social Interactions: Ocular Explorations and Pupillometry in Autism
The primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to…
- Trial name
- ISEOP (NCT01647295)
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
- Trial name
- NCT06160310
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- David M. Ritter
22q11.2 Deletion Syndrome
Arithmetic Abilities in Children With 22q11.2DS
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
- Trial name
- ARITH22 (NCT04373226)
- Testing
- Magnitude comparison tasks and neuropsychological testing
- Where
- France
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Lymphatic Malformation
Different Doses of Sirolimus for the Treatment of Cystic Lymphatic Malformations
The purpose of this study is to compare the efficacy and safety of different concentration gradients of sirolimus in the treatment of cystic lymphatic malformation.
- Trial name
- NCT06673290
- Testing
- Sirolimus (RAPAMUNE)
- Where
- China
- Volunteers
- 150 people
- Sponsor
- West China Hospital
Telangiectasia, Hereditary Hemorrhagic
Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia
We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.
- Trial name
- NCT00230659
- Testing
- Blood sample to be taken.
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways.
- Conditions
- Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation, Vascular Malformations, Venous Malformation
- Trial name
- TARGET-VM (NCT05983159)
- Testing
- Alpelisib, Mirdametinib
- Where
- 2 sites in Australia
- Volunteers
- 50 people
- Sponsor
- Murdoch Childrens Research Institute
Lymphatic Malformations
Alpelisib in Pediatric and Adult Patients With Lymphatic Malformations Associated With a PIK3CA Mutation.
The main purpose of this study in participants with PIK3CA-mutated LyM is to assess the change in radiological response and symptom severity upon treatment with alpelisib film-coated tablets (FCT) as compared to placebo.
- Trial name
- EPIK-L1 (NCT05948943)
- Testing
- Alpelisib
- Where
- 61 sites in United States, Argentina and 10 more
- Volunteers
- 232 people
- Sponsor
- Novartis Pharmaceuticals
Vascular Malformations, Lymphatic Malformation
Topical Sirolimus in Cutaneous Lymphatic Malformations
Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions of children and adults resulting from abnormal embryologic development of lymphatic vessels.
- Trial name
- TOPICAL (NCT03972592)
- Testing
- Topical 0.1% Sirolimus, Topical Vehicle
- Where
- 17 sites in France
- Volunteers
- 55 people
- Sponsor
- University Hospital, Tours
Hereditary Hemorrhagic Telangiectasia, Arteriovenous Malformations
Comprehensive HHT Outcomes Registry of the United States (CHORUS)
The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT).
- Conditions
- Hereditary Hemorrhagic Telangiectasia, Arteriovenous Malformations, Telangiectasia, Epistaxis
- Trial name
- CHORUS (NCT06259292)
- Where
- 16 sites in United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Cure HHT
Lymphatic Malformation
Safety and Efficacy Study of Intracystic TARA-002 for the Treatment of Lymphatic Malformations in Participants 6 Months to Less Than 18 Years of Age
This is a Phase 2a/b single arm open label study to evaluate the safety, reactogenicity, and efficacy of intracystic injection of TARA-002 in participants 6 months to less than 18 years of age for the treatment of macrocystic and…
- Trial name
- STARBORN-1 (NCT05871970)
- Testing
- TARA-002
- Where
- 11 sites in United States
- Volunteers
- 38 people
- Sponsor
- Protara Therapeutics
Telangiectasia, Hereditary Hemorrhagic
Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia
In this study the investigators will obtain histological samples from people with hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome).
- Trial name
- NCT00733655
- Where
- United Kingdom
- Volunteers
- 6 people
- Sponsor
- Imperial College London
DiGeorge Syndrome, DiGeorge Anomaly
Thymus Transplantation With Immunosuppression
The research purpose is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly.
- Conditions
- DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- 884 (NCT00579709)
- Testing
- Thymus Tissue for Transplantation
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Hereditary Hemorrhagic Telangiectasia, Dental Diseases
Nationwide Awareness Campaign and Call for Dental Screening for HHT in Germany
HHT is a relative rare autosomal dominant inherited disorder of the fibrovascular tissue. Diagnosis of HHT is often delayed for decades (Pierucci 2012).
- Trial name
- NCT03549949
- Where
- Germany
- Volunteers
- 411 people, healthy volunteers welcome
- Sponsor
- University Hospital, Essen