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ORPHA:500180

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

low confidenceDisorder

Also known as: CONDBA

Publications

901

Trials

1

Interventional, condition-specific

Researchers

145

Distinct authors in sample

Gene link

UBTF

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurodegenerative disease characterized by childhood onset of slowly motor and cognitive regression, resulting in and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. , dysarthria, and have also been reported. Head circumference percentiles may decline over time. Brain imaging shows cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.

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 (1)

UBTF-related disorder

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — UBTF

  2. LiteraturePresent

    901 matched papers (736 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Cerebral atrophy; Developmental regression; Profound intellectual disability) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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?

Yes — we know a specific gene responsible (UBTF).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

61

Associated phenotypes · MONDO:0044701

  • Cerebral atrophy
  • Developmental regression
  • Profound intellectual disability
  • Hyperactivity
  • Chorea

Showing 5 of 61 — 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 2026-07-27

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

901

901 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.

901 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).

736 in the last 10 years · low confidence

Phrase hits: 24 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

145

Distinct author names in 24 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
    LeDoux MS2 papers · 2024

    Department of Psychology, University of Memphis, Memphis, TN, United States.

    Papers in Europe PMC
  2. 02
    Abdelghani M1 paper · 2021
    Papers in Europe PMC
  3. 03
    Bae H1 paper · 2025

    Veterans Health Service Medical Center, Seoul, Korea, Republic of (South)

    Papers in Europe PMC
  4. 04
    Boutin H1 paper · 2021

    Wolfson Molecular Imaging Centre, University of Manchester, UK.

    Papers in Europe PMC
  5. 05
    Br G1 paper · 2024

    Department of Radio-Diagnosis, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.

    Papers in Europe PMC
  6. 06
    Braden AA1 paper · 2024

    Department of Neurology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38104, USA.

    Papers in Europe PMC
  7. 07
    Brault J1 paper · 2022

    Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

    Papers in Europe PMC
  8. 08
    Brown C1 paper · 2024

    Department of Pediatrics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

    Papers in Europe PMC
  9. 09
    Bugg JM1 paper · 2011

    Washington University, Department of Psychology, Campus Box 1125, One Brookings Dr., St.Louis, MO 63130, USA. jbugg@artsci.wustl.edu

    Papers in Europe PMC
  10. 10
    Bugin S1 paper · 2023

    U.O.C. Pediatria, Ospedale San Bortolo, Vicenza, Italy.

    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; none in our sample are currently recruiting.

Data as of 9 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.

No currently recruiting studies in the matched set. Open the same 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

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 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder — 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.

("Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" OR "CONDBA" OR "UBTF-related disorder") OR ("UBTF" OR "UBTF syndrome" OR "UBTF-related")

Run this search on Europe PMC

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

"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" OR "CONDBA" OR "UBTF-related disorder"

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 · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (901) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:23:42.699Z