Familial renal glucosuria
MONDO:0009297Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).
Also known as: Renal Glycosuria, SGLT2 deficiency, familial renal glucosuria, GLYS, Glys1, glycosuria, renal, renal glucosuria, renal glycosuria
35 clinical trials for this condition and its sub-types.
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Can a common supplement shield dialysis Kids' hearts?
Disease control ENROLLING_BY_INVITATIONThis study tests whether a daily dose of alpha lipoic acid, an antioxidant supplement, can lower the risk of heart problems in 50 children who are on regular hemodialysis. Participants will either take the supplement or a placebo pill for a period, and researchers will monitor fo…
Phase: PHASE3 • Sponsor: Ain Shams University • Aim: Disease control
Last updated Jun 27, 2026 09:09 UTC
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Could a diabetes drug shield Kids' kidneys?
Disease control OngoingThis study tests whether dapagliflozin, a drug used in adults for diabetes and kidney protection, can reduce protein leakage in the urine of children with chronic kidney disease. Ten children aged 4 to 18 with persistent proteinuria despite standard therapy will take the drug, an…
Phase: NA • Sponsor: Al-Quds University • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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300 volunteers help create medical image bank for science
Knowledge-focused OngoingThis study gathers MRI, CT, and ultrasound images from 300 adults—some healthy, some with kidney or brain disease—to build a collection for future not-for-profit research. No new treatments are being tested; the goal is to make medical images available to scientists for advancing…
Sponsor: Mario Negri Institute for Pharmacological Research • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:28 UTC