X-linked sideroblastic anemia with ataxia
MONDO:0010524A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.
Also known as: ASAT, Pagon-Bird-Detter syndrome, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, anaemia sideroblastic and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive
37 clinical trials for this condition and its sub-types.
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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC
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Can intense walking training help brain injury patients walk better?
Symptom relief Not yet recruitingThis study looks at whether high-intensity walking training can help people with cerebellar damage (a part of the brain that controls balance and coordination) improve their walking ability. Twenty participants will either do intense walking exercises or standard training. The go…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 13:01 UTC
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AI vs. experts: can a computer judge speech as well as a human?
Knowledge-focused Not yet recruitingThis study will compare how well an AI program (Blings) measures speech clarity in 40 adults with speech disorders from stroke or other neurological conditions. Two speech therapists will also rate the same speech samples. The goal is to see if the AI can reliably replace or assi…
Sponsor: Pusan National University Yangsan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC