Ataxia telangiectasia
MONDO:0008840Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
Also known as: Louis-Bar syndrome, ataxia - telangiectasia, ataxia telangiectasia, ataxia telangiectasia syndrome, AT, AT, complementation group A, AT, complementation group C, AT, complementation group D
35 clinical trials for this condition and its sub-types, 11 tagged with Ataxia telangiectasia itself.
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Sub-types of Ataxia telangiectasia
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Could red blood cells deliver a steroid to ease a rare brain disorder?
Disease control CompletedThis Phase 3 trial tested a treatment called EryDex for people with ataxia telangiectasia (A-T), a rare genetic disease that affects movement and coordination. EryDex is a steroid (dexamethasone) packaged inside the patient's own red blood cells and given as an IV infusion every …
Phase 3 • Sponsor: Quince Therapeutics S.p.A. • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
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Fertility boost? study tests estradiol and guaifenesin alongside clomiphene
Disease control CompletedThis study looked at whether adding vaginal estradiol or oral guaifenesin to standard fertility treatment (clomiphene citrate) could improve pregnancy rates. 90 women with infertility were randomly assigned to one of three groups. The goal was to see if these add-ons helped with …
Sponsor: Yuzuncu Yil University • Aim: Disease control
Last updated Jun 27, 2026 09:03 UTC
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Can an immune drug slow a rare childhood brain disease?
Symptom relief CompletedAtaxia-telangiectasia is a rare, inherited disease that damages the nervous system, skin, and immune system, and it has no cure. Researchers are testing sirolimus, an immune-suppressing drug, in children under 17 with the condition. The six participants take sirolimus by mouth fo…
Phase 2 • Sponsor: Sara Elva Espinosa Padilla, MD • Aim: Symptom relief
Last updated Sep 17, 2026 00:00 UTC
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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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Large study looks at how a 25-Gene cancer test affects patients and families
Knowledge-focused CompletedThis study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …
Sponsor: University of Southern California • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
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Can a simple uterine flush boost IVF pregnancy rates?
Knowledge-focused CompletedThis study looked at whether flushing the uterus with a low dose of the hormone hCG right after egg retrieval could improve pregnancy rates in women undergoing IVF. Researchers measured immune markers and blood flow in the uterus to see if the flush made the womb more receptive t…
Phase 4 • Sponsor: Omayma Ismail Khalaf • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:57 UTC