Nephrotic syndrome 14
MONDO:0033203Also known as: RENI syndrome, SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14, SPLIS, familial steroid-resistant nephrotic syndrome with adrenal insufficiency, nephrotic syndrome 14, nephrotic syndrome, type 14, primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency, renal, endocrine, neurologic and immune syndrome
7 clinical trials for this condition and its sub-types, 3 tagged with Nephrotic syndrome 14 itself.
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Splint or exercise? new study aims to settle best treatment for thumb tendonitis
Symptom relief Recruiting nowThis study compares two common conservative treatments for De Quervain's tenosynovitis, a painful thumb tendon condition: a static hand-wrist splint versus home-based exercise therapy. Forty adults with acute or subacute pain will be tracked for changes in pain, wrist function, a…
Sponsor: Konya Beyhekim Training and Research Hospital • Aim: Symptom relief
Last updated Jun 27, 2026 12:00 UTC
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Rare disease mystery: can tracking SPLIS patients unlock its secrets?
Knowledge-focused Recruiting nowThis study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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New registry aims to unlock secrets of Ultra-Rare SPLIS disease
Knowledge-focused Recruiting nowThis study collects medical and genetic information from people with SPLIS, a rare condition caused by a faulty enzyme. Researchers will track survival and when kidney problems start. No treatments are given, but the registry may help future research.
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC