Mevalonic aciduria
MONDO:0012481Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
Also known as: HIDS, MKD, MVA, complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, mevalonic aciduria, MEVA, Mevalonicaciduria
88 clinical trials for this condition and its sub-types.
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Community leaders step up to boost COVID shots in black rheumatic patients
⭐️ VACCINE ⭐️ OngoingThis study tests whether training popular community leaders to share vaccine information can increase COVID-19 booster shots among Black individuals with rheumatic conditions like lupus. About 60 people will take part, including leaders and their social network members. The goal …
Phase: NA • Sponsor: Northwestern University • Aim: ⭐️ VACCINE ⭐️
Last updated Jun 27, 2026 13:00 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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Can an online course keep arthritis patients working?
Symptom relief OngoingThis study tests an online program designed to help people with inflammatory arthritis remain employed. The program includes eLearning modules, group video sessions, and consultations with an occupational therapist and vocational counselor. About 528 participants from three Canad…
Phase: NA • Sponsor: University of British Columbia • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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New tool could predict who will suffer from steroid side effects
Knowledge-focused OngoingThis study aims to create a tool that predicts which patients with inflammatory rheumatic diseases (like rheumatoid arthritis, vasculitis, or polymyalgia rheumatica) will develop serious side effects from long-term steroid use. Researchers will collect routine medical data—such a…
Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 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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New registry aims to unlock safer pregnancies for women with autoimmune conditions
Knowledge-focused ENROLLING_BY_INVITATIONThis registry enrolls up to 1,000 women aged 12–55 with rheumatic or autoimmune diseases who are pregnant or planning pregnancy. Researchers will collect data from medical records and patient surveys to study pregnancy outcomes, disease activity, and medication use. No experiment…
Sponsor: Duke University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
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Hidden swallowing risks found in rheumatic disease patients?
Knowledge-focused OngoingThis study checks how common swallowing difficulties (dysphagia) are in people with inflammatory rheumatic diseases like rheumatoid arthritis. Researchers used questionnaires to measure swallowing function, gut symptoms, and diet quality in 191 participants. The goal is to unders…
Sponsor: Pamukkale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Trauma tied to fibromyalgia? new study investigates
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at whether stressful or traumatic life events increase the chance of developing fibromyalgia. Researchers will follow 534 adults—some with rheumatic diseases and some healthy—for one year, checking for new fibromyalgia cases. The goal is to better understand how …
Sponsor: National Institute of Medical Sciences and Nutrition, Salvador Zubiran • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC
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Free eye tests aim to catch vision loss early in harlem and washington heights
Knowledge-focused OngoingThis study offers free vision screenings to underserved adults over 40 living in affordable housing in Harlem and Washington Heights. The goal is to find eye problems like glaucoma, cataracts, and diabetic retinopathy early and connect people with follow-up care. About 749 partic…
Phase: NA • Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC