ORPHA:1175
X-linked progressive cerebellar ataxia
Publications
914
85.9th percentile
Trials
0
Interventional, condition-specific
Researchers
13
Distinct authors in sample
Gene link
ATP2B3
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked cerebellar , characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb , intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010547
- MeSH:C563134
- OMIM:302500
- UMLS:C0796205
Additional Mondo synonyms (2)
spinocerebellar ataxia, X-linked 1, X-linked recessive · spinocerebellar ataxia, X-linked type 1
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — ATP2B3
- LiteraturePresent
914 matched papers (706 in last 10 years) Source
- Phenotype characterisedPresent
41 HPO annotations (e.g. Limb ataxia; Intention tremor; Clumsiness) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Yes — we know a specific gene responsible (ATP2B3).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
41
Associated phenotypes · MONDO:0010547
- Limb ataxia
- Intention tremor
- Clumsiness
- Scoliosis
- EMG: neuropathic changes
Showing 5 of 41 — 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)
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?
914
914 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.
914 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).
706 in the last 10 years · high confidence · 85.9th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
13
Distinct author names in 2 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.
- 01Khanahmad H1 paper · 2023
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746 73461, Iran.
Papers in Europe PMC - 02Khorram E1 paper · 2023
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746 73461, Iran.
Papers in Europe PMC - 03Lee H1 paper · 2023
Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.
Papers in Europe PMC - 04Luo J1 paper · 2022
The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning, China.
Papers in Europe PMC - 05Mir A1 paper · 2023
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746 73461, Iran.
Papers in Europe PMC - 06Nasiri J1 paper · 2023
Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Papers in Europe PMC - 07Qin Z1 paper · 2022
The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning, China.
Papers in Europe PMC - 08Song Y1 paper · 2023
Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.
Papers in Europe PMC - 09Tabatabaiefar MA1 paper · 2023
Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, 81746 73461, Iran. tabatabaiefar@med.mui.ac.ir.
Papers in Europe PMC - 10Yang Q1 paper · 2022
The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning, China.
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.
high 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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)
- ctis·2025-523828-51-00·Authorised·IB1001-304: Effects of N-Acetyl-L-Leucine on CACNA1A Disorders: A Phase III, randomized, placebo-controlled, double-blind, crossover study
skipped — LLM skipped (--skip-llm)
- ctis·2024-520413-53-00·Authorised, ongoing·A randomized, parallel-arm, double blind, placebo-controlled study to assess the efficacy of fampridine for patients with spinocerebellar ataxia SCA27B caused by a GAA expansion in the FGF14 gene.(TREAT-FGF14)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514763-25-01·Authorised, ongoing·A Phase 1 Study of ARO-ATXN2 Injection in Adults With Spinocerebellar Ataxia Type 2
skipped — LLM skipped (--skip-llm)
- ctis·2024-517706-29-00·Authorised, ongoing·Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Phase III, randomized, placebo-controlled, double-blind, crossover study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518962-29-00·Authorised, ongoing·Riluzole (Glentek) in patients with SpinoCerebellar Ataxia type 7: a randomized, doubleblind, placebo-controlled pilot trial with a lead in phase
skipped — LLM skipped (--skip-llm)
- ctis·2024-514328-18-00·Authorised, ongoing·A phase 1/2a, open-label trial to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of multiple ascending doses of intrathecally administered VO659 in participants with spinocerebellar ataxia types 1, 3 and Huntington’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518266-27-00·Expired·A Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety, Tolerability, and Efficacy of 2000 mg/kg of Trappsol® Cyclo™ (Hydroxypropyl-β-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients with Niemann-Pick Disease Type C1
skipped — LLM skipped (--skip-llm)
- ctis·2023-510278-14-00·Authorised, ongoing·Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study
skipped — LLM skipped (--skip-llm)
- ctis·2022-501004-10-00·Cancelled·A DOUBLE-BLIND, RANDOMIZED, PLACEBO CONTROLLED TRIAL TO ASSESS SAFETY AND EFFICACY OF SLS-005 (TREHALOSE INJECTION, 90.5 MG/ML FOR INTRAVENOUS INFUSION) FOR THE TREATMENT OF ADULTS WITH SPINOCEREBELLAR ATAXIA
skipped — LLM skipped (--skip-llm)
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 X-linked progressive cerebellar ataxia — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("X-linked progressive cerebellar ataxia" OR "spinocerebellar ataxia, X-linked 1, X-linked recessive" OR "spinocerebellar ataxia, X-linked type 1") OR ("ATP2B3" OR "ATP2B3 syndrome" OR "ATP2B3-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked progressive cerebellar ataxia" OR "spinocerebellar ataxia, X-linked 1, X-linked recessive" OR "spinocerebellar ataxia, X-linked type 1"
Study-type breakdown: 0 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
Ingested 2026-07-26T16:34:41.613Z