Formiminoglutamic aciduria
MONDO:0009240Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
Also known as: FTCD deficiency, formiminoglutamic aciduria, formiminotransferase cyclodeaminase deficiency, glutamate formiminotransferase deficiency, Arakawa syndrome 1, Figlu-Uria, Formiminoglutamicaciduria (FIGLU-Uria), formiminoglutamic acidemia
64 clinical trials for this condition and its sub-types.
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New drug aims to stop transplant attack on the body
Disease control OngoingThis phase 2 trial tests whether the drug itacitinib, given with standard care, can prevent graft-versus-host disease (GVHD) in people who receive a donor stem cell transplant for blood cancers. GVHD happens when the donor cells attack the patient's body. The study includes 31 ad…
Phase: PHASE2 • Sponsor: M.D. Anderson Cancer Center • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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New blood treatment could block zika in transfusions
Disease control OngoingThis study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…
Phase: PHASE3 • Sponsor: Cerus Corporation • Aim: Disease control
Last updated Jun 27, 2026 11:03 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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Could listening to music ease the stress of stem cell transplants?
Symptom relief OngoingThis pilot study tests whether a daily mindful music listening program is practical and acceptable for patients hospitalized after an allogeneic stem cell transplant. About 35 adults will listen to music for one hour each day using a web-based platform. The study measures how fea…
Phase: NA • Sponsor: University of Colorado, Denver • Aim: Symptom relief
Last updated Jun 27, 2026 12:03 UTC
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Art and exercise may boost recovery for kids after transplant
Symptom relief OngoingThis study looks at whether adding art therapy to physical therapy can help children aged 5 to 18 recover emotionally and physically after a stem cell transplant. For two weeks, some children receive both art and physical therapy daily, while others get only physical therapy. Res…
Phase: NA • Sponsor: Medical University of South Carolina • Aim: Symptom relief
Last updated Jun 27, 2026 08:11 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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Did storing testicular tissue as a child protect fertility? new study aims to find out
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows 50 young men who had cancer or blood disorders as children and received treatments that can harm fertility. Some stored testicular tissue before treatment; others did not. Researchers will check their fertility through exams, ultrasounds, blood tests, and semen…
Phase: NA • Sponsor: Universitair Ziekenhuis Brussel • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC