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Telangiectasis clinical trials

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NCT ID: NCT06397131 Not yet recruiting - Clinical trials for Macular Telangiectasia Type 2

A Study to Determine the Safety and Efficacy of NT-501 With MHFM

Start date: April 1, 2025
Phase: Phase 3
Study type: Interventional

This study is to determine the long-term levels of CNTF, and the clinical safety and efficacy of the NT-501 implants with the Medica Hollow Fiber Membrane (MHFM) in participants with macular telangiectasia type 2.

NCT ID: NCT06324877 Not yet recruiting - Clinical trials for Ataxia Telangiectasia

Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside

ATNAD
Start date: May 1, 2024
Phase: N/A
Study type: Interventional

Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain. Study population: 6-10 patients with Ataxia-Telangiectasia. Dose: Nicotinamide riboside 25 mg/kg/day in 3 equal divided doses. Primary endpoint: Scales for assessment and rating of ataxia (SARA), and International Cooperative Ataxia Rating Scale (ICARS). Improvement of at least ½ standard deviation in key clinical scales which includes either; a) significant improvement in total combined scores from the SARA and ICARS scales, and /or b) significant improvements any aspects of the SARA and ICARS scales individually, especially pertaining to; Postural and gait improvements, Improved syllable speed and articulation, Improved fine motor skills. Secondary endpoints: Serum analysis of neurofilament light chain (Nfl), Type 1 Interferon (INFs) epigenetic signature

NCT ID: NCT04887311 Not yet recruiting - Clinical trials for Ataxia Telangiectasia

MBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia

Start date: July 2021
Phase: Phase 2
Study type: Interventional

Ataxia Telangiectasia (A-T) is an autosomal recessively inherited neurodegenerative disorder that also has dramatic effects on the immune and endocrine systems. The disorder results from mutations in the A-T mutated gene (ATM) leading to a loss in the production of the ATM protein. The active compound in MBM-01 (4-hydroxy-2,2,6,6-tetramethylpiperidine-1-oxyl) may substitute for the loss of ATM by protecting cells from DNA damage, preventing and reducing oxidative damage, triggering an increase in cellular survival proteins, and preserving the brain and peripheral immune system.

NCT ID: NCT03850730 Not yet recruiting - Epistaxis Clinical Trials

Pazopanib for the Treatment of Epistaxis in Hereditary Hemorrhagic Telangiectasia

Start date: July 1, 2023
Phase: Phase 1/Phase 2
Study type: Interventional

Investigators will test the value of very low dose Pazopanib administered to patients with hereditary hemorrhagic telangiectasia for the reduction in the severity of nose bleeds in those with frequent and long duration bleeding episodes.

NCT ID: NCT02963129 Not yet recruiting - Epistaxis Clinical Trials

Treatment of Nasal Staphylococcus Aureus Colonization in Patients With HHT

Start date: June 2017
Phase: Phase 3
Study type: Interventional

Compare the frequency of epistaxis and quality of life related to nasal bleeding in patients with HHT colonized with sataphylococo before and after being treated with mupirocin ointment.

NCT ID: NCT02458703 Not yet recruiting - Asthma Clinical Trials

Cardiopulmonary Exercise Testing to Evaluate Pulmonary AVMs With and Without Airflow Obstruction

ExercisePAVM2
Start date: May 2015
Phase: N/A
Study type: Interventional

Pulmonary arteriovenous malformations (PAVMs) are a rare vascular condition affecting the lungs. PAVMs lead to low blood oxygen levels, yet are very well tolerated by patients. This study will examine the exercise capacity of PAVM patients using formal cardiopulmonary exercise tests performed on a stationary bicycle, and whether this is affected by the presence of concurrent airflow obstruction, such as due to asthma.

NCT ID: NCT01075438 Not yet recruiting - Clinical trials for Ataxia Telangiectasia

Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients

Start date: March 2010
Phase: N/A
Study type: Observational

Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by gait disorders, neuromotor dysfunction, eye abnormalities and immune deficiency. AT patients are vulnerable to cancer and infection and usually die during their 2nd or 3rd decade due to these complications. The main cause of death is respiratory infections because these patients are known to have severe type of immunodeficiency. Consequently, pneumonia is the most common infection seen in AT patients, and is usually caused by S. pneumoniae. Therefore, a routine schedule of pneumococcal vaccine is highly recommended in AT cases where immunoglobulin replacement therapy was not already initiated. Until recently, AT patients were immunized with the pneumococcal polysaccharide vaccine (PPV23, Pneumovax® Aventis Pasteur MSD). However, data have shown that they do not respond well to these vaccines. Recently, the Israeli Ministry of Health has approved the pneumococcal 7-valent conjugate vaccine (PCV7, Prevenar®, Wyeth Lederle) for AT patients of all ages. This conjugate vaccine is known to stimulate the immune system through a different mechanism and the response is expected to be higher. The approved Israeli schedule for immunization of AT patients includes children older than 2 years that are entitled to receive 2 doses of PCV7 (8 weeks apart) boosted by PPV23, eight weeks after the second dose of PCV7. Assessment of the antibody response of such pneumococcal vaccination protocol in AT patients has never been performed. The "Safra" Children's Hospital is the national multi-disciplinary center caring for AT patients. Approximately 50 patients from all over the country (including Jewish, Druze, Bedouin and other Muslim patients - 3 of whom are Palestinians) are followed in the clinic on a monthly basis. Approximately 20 AT patients are not receiving IVIG replacement therapy, therefore are entitled to receive pneumococcal vaccination as stated above (mean age 10.6, 3 -23 years, 3 less than 5 years) The aim of this study is to evaluate the responsiveness, determined by specific antibody production, of AT patients receiving this new vaccine protocol.

NCT ID: NCT00495443 Not yet recruiting - Hirsutism Clinical Trials

Enhanced Safety Aesthetic Laser System

Start date: September 2007
Phase: N/A
Study type: Interventional

The purpose of this study is to determine whether a new laser system provides better safety and efficacy than existing lasers in popular cosmetic procedures such as hair removal, treatment of cosmetically disturbing vascular lesions and rhytides.