Clinical trials: Telangiectasia
Cardiovascular Diseases, Heart Diseases
Biobehavioral Determinants of Obesity in Black Women
To examine the biobehavioral determinants of obesity in Black as compared with white women.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Obesity, Telangiectasis
- Trial name
- NCT00005386
- Sponsor
- University of Memphis
Ataxia Telangiectasia, Leukemia
Treatment of Leukemia and Lymphoma in Children With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a multisystem disease with diverse manifestations, including progressive neurodegeneration, immunodeficiency, respiratory disease, and genomic instability.
- Conditions
- Ataxia Telangiectasia, Leukemia, Lymphoma
- Trial name
- NCT04037189
- Where
- Israel
- Volunteers
- 250 people
- Sponsor
- Rabin Medical Center
Ataxia Telangiectasia, Infections
Susceptibility to Infections in Ataxia Telangiectasia
Death in Ataxia telangiectasia (A-T) is usually due to cancer or chronic lung failure around 20 years of age. Despite low lymphocyte counts (CD3, CD4, CD8 and CD19), IgA and IgG subclass deficiency opportunistic and acute severe…
- Conditions
- Ataxia Telangiectasia, Infections, Immunodeficiency, Lung Disease
- Trial name
- NCT02345135
- Testing
- Blood collection, Lung function measurement, Symptom diary
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
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
Rare Diseases, Amyloidosis
Institutional Registry of Rare Diseases
The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).
- Conditions
- Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis
- Trial name
- NCT06573723
- Where
- Argentina
- Volunteers
- 380 people
- Sponsor
- Hospital Italiano de Buenos Aires
Ataxia Telangiectasia
Biomarkers for Babies and Young Children With Ataxia Telangiectasia
The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young…
- Trial name
- BOBCAT (NCT07709728)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Ataxia Telangiectasia
Neurofilament Light- Chain in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT04605523
- Testing
- blood withdrawal
- Where
- Germany
- Volunteers
- 40 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Ataxia Telangiectasia
Baclofen Treatment of Ataxia Telangiectasia
This research is being done to find out if Baclofen, a medicine that is often used for the treatment of abnormal stiffness, might also be useful to treat some of the neurologic problems caused by ataxia telangiectasia (A-T).
- Trial name
- NCT00640003
- Testing
- Baclofen
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Varicose Veins of Lower Limb, Varicose Veins and Edema of Leg
Effects of Kinesio Taping Method on Functional Capacity and Quality of Life in Patients With Chronic Venous Disease
The purpose of this randomised and controlled study is to investigate the effects of Kinesio Taping method and compression stockings, combined with exercise therapy, on pain, edema, functional capacity and quality of life in…
- Conditions
- Varicose Veins of Lower Limb, Varicose Veins and Edema of Leg, Chronic Venous Hypertension Peripheral, Spider Veins
- Trial name
- NCT04148950
- Testing
- Kinesio Tape, Compression Stockings, Exercise Program
- Where
- Turkey (Türkiye)
- Volunteers
- 58 people
- Sponsor
- Istanbul University
Ataxia Telangiectasia
Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability and cancer susceptibility.
- Trial name
- NCT03357978
- Testing
- bioelectrical impedance analysis, blood draw, transient elastography (FibroScan)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
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
Ataxia Telangiectasia
Open-Label Extension of EryDex Study IEDAT-04-2022
This is an international, multi-center, prospective, open-label, non-comparative study aiming to provide access to treatment with EryDex to ataxia telangiectasia (A-T) patients who completed the IEDAT-04-2022 trial which studied…
- Trial name
- OLE_NEAT (NCT06664853)
- Testing
- Dexamethasone sodium phosphate
- Where
- 21 sites in United States, Denmark and 7 more
- Volunteers
- 101 people
- Sponsor
- Quince Therapeutics S.p.A.
Ataxia Telangiectasia
N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T).
- Trial name
- NCT03759678
- Testing
- IB1001
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 17 people
- Sponsor
- IntraBio Inc
Coats Disease
Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History
Coats plus syndrome is a very rare and serious disease, caused by premature telomere shortening. It is a pediatric, multi-systemic disease, the main features of which are retinal vasculopathy and neurological disorders…
- Trial name
- COATS+ (NCT04089995)
- Testing
- data collection
- Where
- 6 sites in France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Limoges
Ataxia Telangiectasia
Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by gait disorders, neuromotor dysfunction, eye abnormalities and immune deficiency.
- Trial name
- NCT01075438
- Testing
- Prevenar® (7-valent pneumococcal conjugate vaccine), Pneumovax® (pneumococcal polysaccharide vaccine)
- Where
- Israel
- Volunteers
- 20 people
- Sponsor
- Sheba Medical Center
Ataxia Telangiectasia
Body Composition and Hormonal Status in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02345200
- Testing
- bioelectrical impedance analysis, blood draw
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Ataxia Telangiectasia (AT)
Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)
Ataxia Telangiectasia (AT) is an autosomal recessive inherited condition caused by mutations in the ATM gene1. Patients suffer from neuro-degenerative problems, usually commencing in the second year of life, and affecting…
- Trial name
- NCT00656409
- Testing
- Conjugated pneumococcal vaccine (Prevenar)
- Where
- United Kingdom
- Volunteers
- 30 people
- Sponsor
- Institute of Child Health
Ataxia-Telangiectasia (A-T), Ataxia-Telangiectasia
Sirolimus Treatment in Pediatric Patients With Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk.
- Trial name
- NCT07820579
- Testing
- Rapamune (sirolimus/rapamycin)
- Where
- Mexico
- Volunteers
- 6 people
- Sponsor
- Sara Elva Espinosa Padilla, MD
Telangiectasia, Hereditary Hemorrhagic
Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia
Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an disease that leads to the development of dilated and fragile blood vessels.
- Trial name
- NCT00733629
- Where
- United Kingdom
- Sponsor
- Imperial College London