Clinical trials: Lymphatic Malformations
DiGeorge Syndrome, Hypoparathyroidism
Parathyroid and Thymus Transplantation in DiGeorge #931
This study has three primary purposes: to assess parathyroid function after parathyroid transplantation in infants with Complete DiGeorge syndrome; to assess immune function development after transplantation; and, to assess…
- Conditions
- DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
- Trial name
- NCT00566488
- Testing
- Thymus/Parathyroid Transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Venous Malformations, Lymphatic Malformations
A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
This is a phase 3, double-blind, randomized, placebo-controlled, parallel group, adaptive, multicenter study planned to be conducted at multiple sites in North America, Canada, Taiwan and South Korea.
- Conditions
- Venous Malformations, Lymphatic Malformations, Klippel-Trenaunay Syndrome, CLOVES Syndrome
- Trial name
- S-KY (NCT07285005)
- Testing
- KP-001
- Where
- 5 sites in United States, South Korea and 1 more
- Volunteers
- 150 people
- Sponsor
- Kaken Pharmaceutical
Vascular Anomalies
Phase I Drug Trial for S/E of Marimastat in Disabling Malformations When no Other Options.
3 patients were enrolled in each of 3 study cohorts. There three cohorts were given differing, incrementally larger doses of this phase I drug. The same safety measures are being obtained on all patients.
- Trial name
- NCT00261391
- Testing
- Marimastat
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Boston Children's Hospital
Immune Defect, 22q11.2 Deletion Syndrome
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
- Trial name
- NCT02460328
- Where
- Thailand
- Volunteers
- 43 people
- Sponsor
- Mahidol University
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
Hereditary Haemorrhagic Telangiectasia, Liver Transplant
Recurrence of Hereditary Hemorrhagic Telangiectasia (HHT) After Liver Transplantation
Liver transplantation (LT) has been proposed as a curative treatment in hereditary hemorrhagic telangiectasia (HHT) with severe hepatic involvement.
- Trial name
- HHT (NCT03942315)
- Testing
- Data collection from standard follow-up after liver transplant
- Volunteers
- 14 people
- Sponsor
- Hospices Civils de Lyon
Pulmonary Arteriovenous Malformation
Microvascular Plug (MVP) for the Treatment of Pulmonary ArterioVenous Malformations (PAVMs)
The purpose of this study is to compare the use of the Micro Vascular Plug (MVP) system and other embolic devices in treatment of PAVMs.
- Trial name
- NCT04396041
- Testing
- Microvascular Plug (MVP), Amplatzer Vascular Plug (AVP), Detachable coils
- Where
- United States
- Volunteers
- 223 people
- Sponsor
- Johns Hopkins University
Cerebral Cavernous Malformations
Treatments and Outcomes of Untreated Cerebral Cavernous Malformations in CHina.
This nationwide multicenter prospective cohort study will collect the treatment information and outcomes of the patients with previously untreated cavernous malformations (U-CMs) in China (at least 2000 patients from 20 centers).
- Trial name
- TOUCH (NCT03467295)
- Testing
- Surgery, Observation
- Where
- China
- Volunteers
- 2,000 people
- Sponsor
- First Affiliated Hospital of Fujian Medical University
Hereditary Hemorrhagic Telangiectasia, Ectasia
Phase II Pilot Study of Octreotide, a Somatostatin Octapeptide Analog, for Gastrointestinal Hemorrhage in Hormone-Refractory Hereditary Hemorrhagic Telangiectasia and Senile Ectasia
OBJECTIVES: I. Evaluate the efficacy of octreotide, a somatostatin octapeptide analog, in decreasing gastrointestinal bleeding in patients with hormone-refractory hereditary hemorrhagic telangiectasia or senile ectasia.
- Trial name
- NCT00004327
- Testing
- octreotide
- Volunteers
- 8 people
- Sponsor
- National Center for Research Resources (NCRR)
Hypomelanotic Macules, Facial Angiofibroma
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
- Conditions
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas
- Trial name
- TuScCom (NCT02654340)
- Where
- 8 sites in Albania, Egypt and 6 more
- Volunteers
- 20 people
- Sponsor
- CENTOGENE GmbH Rostock
Lung Disease, Pneumothorax
Study of the Disease Process of Lymphangioleiomyomatosis
Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.
- Conditions
- Lung Disease, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
- Trial name
- NCT00001465
- Testing
- Toshibia Aquilion One CT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Complete DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Safety-Efficacy
Complete DiGeorge anomaly (cDGA) is a disorder in which there is no thymus function. With no thymus function, bone marrow stem cells do not develop into educated T cells, which fight infection.
- Conditions
- Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT01220531
- Testing
- Cultured Thymus Tissue
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Hereditary Hemorrhagic Telangiectasia
Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients
OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT). II. Establish genotype-phenotype correlations in HHT. III.
- Trial name
- NCT00004649
- Sponsor
- National Center for Research Resources (NCRR)
22q11.2 Deletion Syndrome
Genetic Modifiers for 22q11.2 Syndrome
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS).
- Trial name
- VCFS (NCT00916955)
- Testing
- Observation
- Where
- United States
- Sponsor
- State University of New York - Upstate Medical 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
Lymphangioma
A Study to Evaluate Sildenafil for the Treatment of Lymphatic Malformations
There is an unsatisfied medical need for a first-line treatment of lymphatic malformations with a good benefit/risk profile. Based on a patient experience in the institution, the investigators plan to verify whether or not the…
- Trial name
- NCT01290484
- Testing
- Sildenafil
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Stanford University
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Lymphatic Malformation
Use of Bleomycin in the Sclerotherapy of Lymphatic Malformations for Pediatric Patients
Bleomycin has nowadays been more and more widely used in the sclerotherapy of LMs, which has been proven to be primarily dose dependent.
- Trial name
- NCT06437158
- Testing
- Bleomycin
- Where
- China
- Volunteers
- 200 people
- Sponsor
- West China Hospital
Univentricular Heart, Lymphatic Abnormalities
Lymphatic Function in Patients With a Fontan Circulation From Brazil
It is suggested that the elevated central venous pressure in patients with a Fontan circulation can provoke manifestation of lymphatic dysfunction, met as plastic bronchitis, peripheral oedema and most feared protein-losing…
- Conditions
- Univentricular Heart, Lymphatic Abnormalities, Lymphatic Edema
- Trial name
- NCT04394507
- Testing
- Near-Infrared Fluorescence imaging, Strain Gauge Plethysmography
- Where
- 2 sites in Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)