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ORPHA:778

Rett syndrome

low confidenceDisorder

Publications

14,894

Trials

66

Interventional, condition-specific

Researchers

1,103

Distinct authors in sample

Gene link

MECP2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe , , and breathing abnormalities. The disorder has a clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

RTS · RTT · Rett syndrome, X-linked dominant · Rett syndrome, atypical, X-linked dominant · Rett syndrome, preserved speech variant, X-linked dominant · Rett’s disease

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.

  1. Gene identifiedPresent

    Definitive — MECP2

  2. LiteraturePresent

    14,894 matched papers (8,445 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    66 matched on ClinicalTrials.gov (13 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?

14,894

14,894 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=5449) is 41.

14,894 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).

8,445 in the last 10 years · low confidence

Phrase hits: 14,894 · MeSH hits: 472

Open Europe PMC search

Who's working on it?

1,103

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
    Rajagopalan K6 papers · 2026

    Anlitiks Inc., Windermere, FL, United States.

    Papers in Europe PMC
  2. 02
    Rashid N6 papers · 2026

    Medical Affairs, Acadia Pharmaceuticals Inc., San Diego, CA, United States.

    Papers in Europe PMC
  3. 03
    Fagiolini M5 papers · 2026

    F.M. Kirby Neurobiology Division, Boston Children's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Marsh ED5 papers · 2026

    Departments of Neurology and Pediatrics, University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  5. 05
    Benke TA4 papers · 2026

    School of Medicine, Departments of Pediatrics, Neurology and Pharmacology, Children's Hospital of Colorado and University of Colorado, Aurora, CO, USA.

    Papers in Europe PMC
  6. 06
    Downs J4 papers · 2026

    The Kids Research Institute Australia, The Centre for Child Health Research, University of Western Australia, Perth, WA, Australia.

    Papers in Europe PMC
  7. 07
    Gogliotti RG4 papers · 2026

    Department of Molecular Pharmacology and Neuroscience, Loyola University Chicago, IL 60660, USA.

    Papers in Europe PMC
  8. 08
    Koetsier J4 papers · 2026

    Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, 6200 MD, Maastricht, The Netherlands.

    Papers in Europe PMC
  9. 09
    Neul JL4 papers · 2026

    Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.

    Papers in Europe PMC
  10. 10
    Niswender CM4 papers · 2026

    Department of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA. Electronic address: Colleen.niswender@vanderbilt.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

66

interventional trials for this specific condition

66 interventional trials matched this specific condition name; 13 currently recruiting in our sample.

Data as of 27 July 2026

66 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.7th percentile).

low confidence · 97.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

33 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Rett syndrome" OR "Rett syndrome, X-linked dominant" OR "Rett syndrome, atypical, X-linked dominant" OR "Rett syndrome, preserved speech variant, X-linked dominant" OR "Rett’s disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rett Syndrome

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Rett syndrome" OR "Rett syndrome, X-linked dominant" OR "Rett syndrome, atypical, X-linked dominant" OR "Rett syndrome, preserved speech variant, X-linked dominant" OR "Rett’s disease" OR "MECP2"

Recall-expansion terms: MECP2

Interventional trials matched via: both, 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: 66 interventional · 33 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

Synonyms dropped by stoplist: RTS; RTT

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:19:25.077Z