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ORPHA:2131

Alternating hemiplegia of childhood

low confidenceDisorder

Also known as: AHC

Publications

2,117

Trials

3

Interventional, condition-specific

Researchers

1,131

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurological syndrome characterized by episodes of hemiplegia (alternating between the two sides of the body) or tetraplegia, and other accesses such as abnormal ocular movements, dystonia, and dysautonomia. Patients have permanent neurological impairment, variable degrees of , movement disorders, and psychiatric problems. Half of them present with .

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 (7)

adrenal hypoplasia congenita · alternating hemiplegia of childhood · childhood alternating hemiplegia · congenital adrenal Hypoplasia · congenital adrenal gland hypoplasia · paediatric alternating hemiplegia · pediatric alternating hemiplegia

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.”

5/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,117 matched papers (1,086 in last 10 years) Source

  3. Phenotype characterisedPresent

    131 HPO annotations (e.g. Weight loss; Increased circulating ACTH level; Adrenocortical cytomegaly) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. flunarizine Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

131

Associated phenotypes · MONDO:0016241

  • Weight loss
  • Increased circulating ACTH level
  • Adrenocortical cytomegaly
  • Fatigue
  • Decreased circulating luteinizing hormone level

Showing 5 of 131 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

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 · 1 with FDA orphan-indication approval

  • FDA flunarizineAlternating hemiplegia · 2018-11-20 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0016241

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,117

2,117 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=3967) is 59.

2,117 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).

1,086 in the last 10 years · low confidence

Phrase hits: 2,117 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,131

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
    Roze E13 papers · 2026

    APHP, Salpêtrière Hospital, DMU Neurosciences, Paris, France.

    Papers in Europe PMC
  2. 02
    Mikati MA9 papers · 2026

    Division of Pediatric Neurology and Developmental Medicine, Department of Pediatrics, and Department of Neurobiology, Duke University, Durham, NC 27708, USA.

    Papers in Europe PMC
  3. 03
    De Grandis E7 papers · 2026

    EpiCARE-ERN Full Member, Italy; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  4. 04
    Hasegawa T7 papers · 2026

    Department of Pediatrics, Keio University School of Medicine, Tokyo, 160-8582, Japan.

    Papers in Europe PMC
  5. 05
    Panagiotakaki E7 papers · 2025

    Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France.

    Papers in Europe PMC
  6. 06
    Papadopoulou MT7 papers · 2025

    Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France.

    Papers in Europe PMC
  7. 07
    Amano N6 papers · 2026

    Department of Pediatrics, Keio University School of Medicine, Tokyo, 160-8582, Japan.

    Papers in Europe PMC
  8. 08
    Boggs A6 papers · 2026

    Duke University Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Durham, NC, USA.

    Papers in Europe PMC
  9. 09
    George AL6 papers · 2026

    Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address: al.george@northwestern.edu.

    Papers in Europe PMC
  10. 10
    Ishii T6 papers · 2026

    Department of Pediatrics, Keio University School of Medicine, Tokyo, 160-8582, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: alternating hemiplegia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Observational and natural-history studies

4 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 Alternating hemiplegia of childhood — 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.

"Alternating hemiplegia of childhood" OR "Alternating hemiplegia of the childhood" OR "adrenal hypoplasia congenita" OR "childhood alternating hemiplegia" OR "congenital adrenal Hypoplasia" OR "congenital adrenal gland hypoplasia" OR "paediatric alternating hemiplegia" OR "pediatric alternating hemiplegia"

Run this search on Europe PMC

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

"Alternating hemiplegia of childhood" OR "Alternating hemiplegia of the childhood" OR "adrenal hypoplasia congenita" OR "childhood alternating hemiplegia" OR "congenital adrenal Hypoplasia" OR "congenital adrenal gland hypoplasia" OR "paediatric alternating hemiplegia" OR "pediatric alternating hemiplegia"

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: 3 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"alternating hemiplegia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AHC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2117) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:12:50.959Z