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ORPHA:1762

Proximal Xq28 duplication syndrome

low confidenceDisorder

Also known as: MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

Publications

17,370

Trials

2

Interventional, condition-specific

Researchers

1,149

Distinct authors in sample

Gene link

MECP2

Definitive

Readiness

6/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MECP2

  2. LiteraturePresent

    17,370 matched papers (10,311 in last 10 years) Source

  3. Phenotype characterisedPresent

    126 HPO annotations (e.g. Hypoplasia of the maxilla; Deeply set eye; Dental crowding) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. adeno-associated virus serotype 9 containing CRISPR/Cas13Y and guide RNA against the human MECP2 gene Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (2 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)

126

Associated phenotypes · MONDO:0010283

  • Hypoplasia of the maxilla
  • Deeply set eye
  • Dental crowding
  • Aggressive behavior
  • Autistic behavior

Showing 5 of 126 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

2

Designations · no FDA orphan-indication approval yet

  • EMA adeno-associated virus serotype 9 containing CRISPR/Cas13Y and guide RNA against the human MECP2 geneTreatment of MECP2 duplication syndrome · 24/05/2024 · PositiveEMA designation
  • EMA 2'-O-(2-Methoxyethyl) modified antisense oligonucleotide against MECP2 pre-mRNATreatment of MECP2 duplication syndrome · 21/11/2025 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

17,370

17,370 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

17,370 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

10,311 in the last 10 years · low confidence

Phrase hits: 728 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Suter B18 papers · 2025

    Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

    Papers in Europe PMC
  2. 02
    Pehlivan 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
  3. 03
    Zoghbi HY11 papers · 2026

    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  4. 04
    Glaze DG9 papers · 2025

    Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

    Papers in Europe PMC
  5. 05
    Neul JL8 papers · 2025

    Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.

    Papers in Europe PMC
  6. 06
    Wang J8 papers · 2025

    Department of Ophthalmology, Baylor College of Medicine, Houston, Texas 77030.

    Papers in Europe PMC
  7. 07
    Carvalho 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
  8. 08
    Downs 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
  9. 09
    Leonard 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
  10. 10
    Marsh 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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Proximal Xq28 duplication syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Lubs X-linked mental retardation syndrome") OR ("MECP2" OR "MECP2 syndrome" OR "MECP2-related")

Run this search on Europe PMC

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"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (17370) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:04:48.183Z