Fragile X syndrome
MONDO:0010383A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
Also known as: FRAXA syndrome, FXS, FraX syndrome, Fragile X syndrome, X-linked dominant, Martin-Bell syndrome, fragile X intellectual disability syndrome, fragile X syndrome, marker X syndrome
28 clinical trials for this condition and its sub-types.
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Broader categories
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New blood test could replace risky prenatal procedures for genetic diseases
Diagnosis CompletedThis study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and…
Phase: NA • Sponsor: University Hospital, Montpellier • Aim: Diagnosis
Last updated Jun 27, 2026 07:53 UTC
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New drug shows promise for fragile x symptoms in small trial
Symptom relief CompletedThis study tested a single dose of SPG601 in 10 adult men with Fragile X syndrome to see if it improves symptoms like attention and behavior. Participants were randomly assigned to receive either the drug or a placebo, and neither they nor their doctors knew which they got. The g…
Phase: PHASE2 • Sponsor: Spinogenix • Aim: Symptom relief
Last updated Jun 27, 2026 12:37 UTC
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Experimental drug aims to boost thinking skills in teens with fragile x
Symptom relief CompletedThis study tested a drug called zatolmilast (BPN14770) in 163 male adolescents aged 9 to 18 with Fragile X syndrome. The trial had two parts: one to check how the drug moves through the body, and another where some teens got the drug and others got a placebo. Researchers measured…
Phase: PHASE2, PHASE3 • Sponsor: Tetra Discovery Partners • Aim: Symptom relief
Last updated Jun 27, 2026 09:01 UTC
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Diabetes drug metformin tested for fragile x symptoms
Symptom relief CompletedThis study tested whether metformin, a common diabetes medication, can help improve language, behavior, and weight problems in people with fragile X syndrome. 125 participants aged 6 to 35 took either metformin or a placebo for 4 months. Researchers measured changes in language s…
Phase: PHASE2 • Sponsor: University of Alberta • Aim: Symptom relief
Last updated Jun 27, 2026 08:09 UTC
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CBD gel shows promise for fragile x behaviors in major trial
Symptom relief CompletedThis study tested a cannabidiol (CBD) gel, called ZYN002, applied to the skin in 215 children, teens, and young adults with Fragile X syndrome. The goal was to see if it could improve behavioral symptoms like irritability and social withdrawal. Participants received either the CB…
Phase: PHASE3 • Sponsor: Zynerba Pharmaceuticals, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 08:04 UTC
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Brain-Body signals could reveal hidden patterns in autism, ADHD, and Alzheimer's
Knowledge-focused CompletedThis completed study at Rutgers University looked at how the brain and body communicate in 30 people with conditions like autism, ADHD, Alzheimer's, and Parkinson's. Participants performed natural movements like walking and pointing while their brain, heart, and motion signals we…
Sponsor: Rutgers University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
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Scientists scan brains of people with autism and fragile x to spot key differences
Knowledge-focused CompletedThis study used special PET and MRI scans to look at brain activity in 27 men with autism, Fragile X syndrome, or no condition. The goal was to measure a brain chemical called glutamate, which helps nerve cells communicate. Researchers hope this will reveal how brain signaling di…
Phase: PHASE1 • Sponsor: University Hospital, Tours • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC
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Brain wave study tests new drug for fragile x syndrome
Knowledge-focused CompletedThis study looked at how a single dose of gaboxadol affects brain activity in adult males with Fragile X syndrome. Ten participants aged 18 to 40 took either the drug or a placebo during home and clinic visits. The main goal was to measure changes in brain waves using EEG, not to…
Phase: PHASE2 • Sponsor: Craig Erickson • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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NIH study aims to sharpen research skills by evaluating kids with genetic disorders
Knowledge-focused CompletedThis completed study at the NIH enrolled 96 children with known or suspected genetic disorders, including autism and Fragile X syndrome. The main goal was to give clinic staff hands-on experience and explore new research ideas. Participants received medical exams, lab tests, and …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC