Syndromic X-linked intellectual disability Lubs type
MONDO:0010283Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
Also known as: Lubs X-linked intellectual disability syndrome, Lubs X-linked mental retardation syndrome, MECP2 duplication syndrome, MRXSL, Xq28 (MECP2) duplication, distal duplication Xq, intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive, intellectual disability, X-linked, syndromic, Lubs type
8 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
New hope for rare genetic disorder: drug ION440 enters human trials
Disease control Recruiting nowThis study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…
Phase: PHASE1, PHASE2 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
-
New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
-
Social coaching may ease anxiety and autism traits in rare chromosome conditions
Symptom relief Recruiting nowThis trial tests whether a 10-session group program called Social Management Training can improve mental health, executive function, and social skills in adults aged 16 to 69 who have sex chromosome aneuploidies (extra or missing sex chromosomes). Participants complete questionna…
Phase: PHASE1 • Sponsor: University of Oslo • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC
-
Can mapping rare genetic variants unlock better care for autism-related disorders?
Knowledge-focused Recruiting nowThis international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…
Sponsor: Simons Searchlight • Aim: Knowledge-focused
Last updated Jul 25, 2026 00:00 UTC