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ORPHA:238455

Infantile dystonia-parkinsonism

medium confidenceDisorder

Also known as: DTDS · Dopamine transporter deficiency syndrome · IPD · PKDYS

Publications

104

54.7th percentile

Trials

0

Interventional, condition-specific

Researchers

582

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

PARKINSONISM-dystonia, infantile · parkinsonism-dystonia, infantile

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    104 matched papers (82 in last 10 years) Source

  3. Phenotype characterisedPresent

    128 HPO annotations (e.g. Global developmental delay; Hypertonia; Spastic tetraparesis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated viral vector serotype 2 containing the human SLC6A3 gene Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

128

Associated phenotypes · MONDO:0013150

  • Global developmental delay
  • Hypertonia
  • Spastic tetraparesis
  • Secondary microcephaly
  • Axial hypotonia

Showing 5 of 128 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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 adeno-associated viral vector serotype 2 containing the human SLC6A3 geneTreatment of dopamine transporter deficiency syndrome · 13/01/2023 · 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?

104

104 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

104 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).

82 in the last 10 years · medium confidence · 54.7th percentile (publications denominator)

Phrase hits: 104 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

582

Distinct author names in 104 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kurian MA17 papers · 2026

    Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, UK.

    Papers in Europe PMC
  2. 02
    Ng J10 papers · 2025

    Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.

    Papers in Europe PMC
  3. 03
    Freissmuth M9 papers · 2021

    Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Center of Physiology and Pharmacology, Medical University of Vienna, A-1090 Vienna, Austria.

    Papers in Europe PMC
  4. 04
    Sucic S9 papers · 2025

    Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Center of Physiology and Pharmacology, Medical University of Vienna, A-1090 Vienna, Austria. Electronic address: sonja.sucic@meduniwien.ac.at.

    Papers in Europe PMC
  5. 05
    Gainetdinov RR6 papers · 2025

    St. Petersburg State University, Institute of Translational Biomedicine, Universitetskaya Emb. 7-9, 199034 St. Petersburg, Russia, gainetdinov.raul@gmail.com.

    Papers in Europe PMC
  6. 06
    Hummel T6 papers · 2025

    the Department of Neurobiology, University of Vienna, A-1090 Vienna, Austria.

    Papers in Europe PMC
  7. 07
    El-Kasaby A5 papers · 2021

    Institute of Pharmacology and the Gaston H. Glock Research Laboratories for Exploratory Drug Development, Center of Physiology and Pharmacology, Medical University of Vienna, A-1090 Vienna, Austria.

    Papers in Europe PMC
  8. 08
    Leo D5 papers · 2023

    Fondazione Istituto Italiano di Tecnologia, Neuroscience and Brain Technologies Department Via Morego, 30 16163 Genoa, Italy.

    Papers in Europe PMC
  9. 09
    Meyer E5 papers · 2022

    Molecular Neurosciences, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, 30 Guildford Street, London, WC1N 1EH, UK.

    Papers in Europe PMC
  10. 10
    Waddington SN5 papers · 2025

    Gene Transfer Technology Group, EGA-Institute for Women's Health, University College London, London, WC1E 6HX, UK. s.waddington@ucl.ac.uk s.barral@ucl.ac.uk.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Infantile dystonia-parkinsonism — 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.

"Infantile dystonia-parkinsonism" OR "Dopamine transporter deficiency syndrome" OR "PKDYS" OR "PARKINSONISM-dystonia, infantile"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Parkinsonism-Dystonia, Infantile

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

"Infantile dystonia-parkinsonism" OR "Dopamine transporter deficiency syndrome" OR "PKDYS" OR "PARKINSONISM-dystonia, infantile"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: DTDS; IPD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:22:02.966Z