Multiple mitochondrial dysfunctions syndrome 2
MONDO:0013675Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.
Also known as: BOLA3 deficiency, BOLA3 fatal multiple mitochondrial dysfunctions syndrome, fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3, multiple mitochondrial dysfunctions syndrome 2, multiple mitochondrial dysfunctions syndrome type 2, MMDS2, multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
50 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
-
Can a supplement tame your cholesterol? new study seeks answers
Disease control Not yet recruitingThis study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …
Phase: NA • Sponsor: U.G.A. Nutraceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:09 UTC
-
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
-
AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
-
Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC