Autosomal recessive Alport syndrome
MONDO:0008762Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.
Also known as: Alport syndrome 2, autosomal recessive, Alport syndrome, autosomal recessive, Alport syndrome autosomal recessive, Alport syndrome recessive type, nephropathy and deafness
24 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Molecular map may guide treatment for mysterious inflammatory illnesses
Disease control CompletedThis study tested whether analyzing a patient's DNA and RNA could help doctors pick the right drug for inflammatory diseases that don't fit standard categories. 32 adults with at least two affected organs (including skin) received one of six targeted therapies based on their mole…
Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
-
New rapid test for infection and inflammation put to the test
Diagnosis CompletedThis study looked at how well a new, quick finger-prick test (LumiraDx CRP) measures CRP levels compared to a standard lab test. CRP is a marker of infection, inflammation, or tissue injury. 79 adults with symptoms of these conditions took part. The goal was to see if the new tes…
Sponsor: LumiraDx UK Limited • Aim: Diagnosis
Last updated Jun 27, 2026 13:07 UTC
-
Sweat sensor could replace needles for kidney patients
Diagnosis CompletedThis study tested a new wearable patch that collects sweat to measure sodium and creatinine levels, which are important for monitoring kidney health and dehydration. Five adults with kidney disease wore the patch while their sweat was analyzed using a special light-based techniqu…
Phase: NA • Sponsor: Korea University • Aim: Diagnosis
Last updated Jun 27, 2026 08:11 UTC
-
New PET tracer aims to light up hidden infections
Diagnosis CompletedThis early study tested a new radioactive tracer called 18F-FDS in 16 people with suspected bacterial or fungal infections. The tracer is designed to light up infection sites on PET/CT scans, helping doctors see exactly where an infection is. The goal was to check how the tracer …
Sponsor: Johns Hopkins University • Aim: Diagnosis
Last updated Jun 27, 2026 08:03 UTC
-
Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC