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ORPHA:138

CHARGE syndrome

low confidenceDisorder

Also known as: CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome · Hall-Hittner syndrome

Publications

16,969

Trials

1

Interventional, condition-specific

Researchers

1,509

Distinct authors in sample

Gene link

CDK9, CHD7, SEMA3E

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A multiple anomaly characterized by a broad with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).

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 (3)

coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association · coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association · coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

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 — CDK9, CHD7, SEMA3E

  2. LiteraturePresent

    16,969 matched papers (11,396 in last 10 years) Source

  3. Phenotype characterisedPresent

    183 HPO annotations (e.g. Absent radius; Cleft palate; Abnormal rib morphology) Source

  4. Animal modelPresent

    63 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. allogeneic cultured postnatal thymus-derived tissue Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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 (CDK9, CHD7, SEMA3E).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

183

Associated phenotypes · MONDO:0008965

  • Absent radius
  • Cleft palate
  • Abnormal rib morphology
  • Hypoplastic male external genitalia
  • Right aortic arch

Showing 5 of 183 — open Monarch for the full list.

Animal models (Monarch / Alliance)

63

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA allogeneic cultured postnatal thymus-derived tissueTreatment of CHARGE syndrome · 26/02/2019 · WithdrawnEMA 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?

16,969

16,969 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.

16,969 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).

11,396 in the last 10 years · low confidence

Phrase hits: 3,684 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,509

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
    Wang Y9 papers · 2026

    Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  2. 02
    Li Y8 papers · 2026

    Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, School of Medicine, Shanghai JiaoTong University, No.639 Zhizaoju Road, Huangpu District, Shanghai, 200023, China.

    Papers in Europe PMC
  3. 03
    Zhang Y8 papers · 2026

    Division of Cell Systems and Drug Safety, Leiden Academic Centre for Drug Research, Leiden University, Einsteinweg 55, 2333 CC, Leiden, 2300 RA, The Netherlands.

    Papers in Europe PMC
  4. 04
    Liu Y7 papers · 2026

    Department of Endocrinology and Metabolism, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China; Jiangxi Clinical Research Center for Endocrine and Metabolic Disease, Nanchang, People's Republic of China; Jiangxi Branch of National Clinical Research Center for Metabolic Disease, Nanchang, People's Republic of China. Electronic address: ndyfy06696@ncu.edu.cn.

    Papers in Europe PMC
  5. 05
    Zhang J7 papers · 2026

    Affiliated Yongkang First People's Hospital, School of Pharmaceutical Sciences, Hangzhou Medical College, Zhejiang, Hangzhou, 311399, China.

    Papers in Europe PMC
  6. 06
    Chen Y6 papers · 2026

    Affiliated Yongkang First People's Hospital, School of Pharmaceutical Sciences, Hangzhou Medical College, Zhejiang, Hangzhou, 311399, China.

    Papers in Europe PMC
  7. 07
    Wu J6 papers · 2026

    State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 200438, China.

    Papers in Europe PMC
  8. 08
    Chen C5 papers · 2026

    Department of Urology, Shanghai Pudong Hospital, Fudan University Pudong Medical Center; Laboratory Animal Center, Fudan University, Shanghai 200032, China.

    Papers in Europe PMC
  9. 09
    Han X5 papers · 2026

    Department of Endocrinology and Metabolism, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Huang Z5 papers · 2025

    Institute of Pediatrics, Children's Hospital of Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Ministry of Science and Technology, Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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

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 78 · after dedupe 78 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 78 · 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 (78)

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 CHARGE 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.

("CHARGE syndrome" OR "CHARGE association" OR "Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome" OR "Coloboma-heart defects-atresia choanae-retardation of the growth and development-genitourinary problems-ear abnormalities syndrome" OR "Hall-Hittner syndrome" OR "coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association" OR "coloboma, heart defects, choanal atresia, retardation of the Growth and development, genital abnormalities, and Ear anomalies association" OR "coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association" OR "coloboma, heart malformation, choanal atresia, retardation of the Growth and development, genital abnormalities, and Ear malformations (CHARGE) association") OR ("CDK9" OR "CDK9 syndrome" OR "CDK9-related" OR "CHD7" OR "CHD7 syndrome" OR "CHD7-related" OR "SEMA3E" OR "SEMA3E syndrome" OR "SEMA3E-related")

Run this search on Europe PMC

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

"CHARGE syndrome"

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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (16969) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:35:52.146Z