ORPHA:1762
Proximal Xq28 duplication syndrome
Also known as: MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type
Publications
728
90.8th percentile
Trials
7
Interventional, condition-specific
Researchers
1,149
Distinct authors in sample
Gene link
MECP2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by onset , severe global , , spasticity, , gastrointestinal symptoms and recurrent respiratory infections. In females, the is more variable.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010283
- MeSH:C537723
- OMIM:300260
- UMLS:C1846058
- NCIT:C126747
Additional Mondo synonyms (11)
Lubs X-linked intellectual disability syndrome · Lubs X-linked mental retardation 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 · intellectual disability, X-linked, with recurrent respiratory infections · mental retardation, X-linked, with recurrent respiratory infections · syndromic X-linked intellectual disability Lubs type · telomeric duplication Xq
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MECP2
- LiteraturePresent
728 matched papers (552 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
7 matched on ClinicalTrials.gov (5 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MECP2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
728
728 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
728 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
552 in the last 10 years · high confidence · 90.8th percentile (publications denominator)
Phrase hits: 728 · MeSH hits: 1
Who's working on it?
1,149
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Suter B18 papers · 2025
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 02Pehlivan D14 papers · 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Texas, USA; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Texas, USA.
Papers in Europe PMC - 03Zoghbi HY11 papers · 2026
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 04Glaze DG9 papers · 2025
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.
Papers in Europe PMC - 05Neul JL8 papers · 2025
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.
Papers in Europe PMC - 06Wang J8 papers · 2025
Department of Ophthalmology, Baylor College of Medicine, Houston, Texas 77030.
Papers in Europe PMC - 07Carvalho CMB7 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Pacific Northwest Research Institute, Seattle, WA, USA.
Papers in Europe PMC - 08Downs J7 papers · 2026
Centre for Child Health Research, The Kids Research Institute Australia, The University of Western Australia, Perth, Western Australia, Australia.
Papers in Europe PMC - 09Leonard H7 papers · 2026
Centre for Child Health Research, The Kids Research Institute Australia, The University of Western Australia, Perth, Western Australia, Australia.
Papers in Europe PMC - 10Marsh ED7 papers · 2025
Division of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 5 currently recruiting in our sample.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
high confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07430046·RECRUITING·Repurposing Mirtazapine in Rett Syndrome
Conditions: RETT Syndrome With Proven MECP2 Mutation·Matched via recall expansion
- NCT06739434·ENROLLING BY INVITATION·GCB-002 in Treatment of Patients With Rett Syndrome
Conditions: RETT Syndrome With Proven MECP2 Mutation·Matched via recall expansion
- NCT06615206·RECRUITING·A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)
Conditions: MECP2 Duplication Syndrome·Matched via name phrase
- NCT07257978·NOT YET RECRUITING·Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
Conditions: RETT Syndrome With Proven MECP2 Mutation · Rett Syndrome·Matched via recall expansion
- NCT06430385·RECRUITING·ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)
Conditions: Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome·Matched via name phrase
Observational and natural-history studies
7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07493096·RECRUITING·Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
Conditions: Neurodevelopmental Disorders · Neurodevelopmental Disorders (NDD) · Neurodevelopmental Disorders and Developmental Abnormalities · Developmental Delay (Disorder)·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Proximal Xq28 duplication syndrome" OR "MECP2 duplication syndrome" OR "X-linked intellectual disability syndrome, Lubs type" OR "Lubs X-linked intellectual disability syndrome" OR "Lubs X-linked mental retardation syndrome" OR "MRXSL" OR "Xq28 (MECP2) duplication" OR "distal duplication Xq" OR "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" OR "intellectual disability, X-linked, syndromic, Lubs type" OR "intellectual disability, X-linked, with recurrent respiratory infections" OR "mental retardation, X-linked, with recurrent respiratory infections" OR "syndromic X-linked intellectual disability Lubs type" OR "telomeric duplication Xq"
MeSH descriptor terms unioned into the query: Lubs X-linked mental retardation syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Proximal Xq28 duplication syndrome" OR "MECP2 duplication syndrome" OR "X-linked intellectual disability syndrome, Lubs type" OR "Lubs X-linked intellectual disability syndrome" OR "Lubs X-linked mental retardation syndrome" OR "MRXSL" OR "Xq28 (MECP2) duplication" OR "distal duplication Xq" OR "intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive" OR "intellectual disability, X-linked, syndromic, Lubs type" OR "intellectual disability, X-linked, with recurrent respiratory infections" OR "mental retardation, X-linked, with recurrent respiratory infections" OR "syndromic X-linked intellectual disability Lubs type" OR "telomeric duplication Xq" OR "MECP2"
Recall-expansion terms: MECP2
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 7 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T18:04:48.183Z