ORPHA:2802
X-linked sideroblastic anemia and spinocerebellar ataxia
Also known as: Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia · XLSA-A
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
531
Trials
0
Interventional, condition-specific
Researchers
1,460
Distinct authors in sample
Gene link
ABCB7
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly spinocerebellar .
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010524
- MeSH:C536358
- OMIM:301310
- UMLS:C1845028
Additional Mondo synonyms (7)
ASAT · X-linked sideroblastic anaemia with spinocerebellar ataxia · X-linked sideroblastic anemia with spinocerebellar ataxia · anaemia sideroblastic and spinocerebellar ataxia · anemia, sideroblastic, with ataxia, X-linked recessive · sideroblastic anaemia with spinocerebellar ataxia · sideroblastic anemia with spinocerebellar ataxia
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ABCB7
- LiteraturePresent
531 matched papers (263 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 1 for broader category sideroblastic anemia
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 (ABCB7).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
531
531 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=5449) is 41.
531 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
263 in the last 10 years · low confidence
Phrase hits: 531 · MeSH hits: 0
Who's working on it?
1,460
Distinct author names in 200 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.
- 01Fleming MD7 papers · 2025
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 02Fujiwara T7 papers · 2025
Department of Hematology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan.
Papers in Europe PMC - 03Ahn C6 papers · 2026
Substrate Metabolism Laboratory, School of Kinesiology, University of Michigan, Ann Arbor, Michigan, USA.
Papers in Europe PMC - 04Campagna DR6 papers · 2025
Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 05Harigae H6 papers · 2025
Department of Hematology, Tohoku University Graduate School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, 980-8574, Japan. harigae@med.tohoku.ac.jp.
Papers in Europe PMC - 06Sparks LM6 papers · 2026
Translational Research Institute, AdventHealth, Orlando, FL, USA. Electronic address: Lauren.Sparks@AdventHealth.com.
Papers in Europe PMC - 07Thomas EL6 papers · 2026
Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK. l.thomas3@westminster.ac.uk.
Papers in Europe PMC - 08Basty N5 papers · 2025
Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK.
Papers in Europe PMC - 09Bell JD5 papers · 2026
Research Centre for Optimal Health, School of Life Sciences, University of Westminster, London, UK.
Papers in Europe PMC - 10Leinhard OD5 papers · 2026
Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.
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). 1 trial are registered for sideroblastic anemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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.
1 interventional trial matched sideroblastic anemia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: sideroblastic anemia
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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 sideroblastic anemia and spinocerebellar ataxia" OR "Pagon-Bird-Detter syndrome" OR "X-linked sideroblastic anemia with ataxia" OR "XLSA-A" OR "X-linked sideroblastic anaemia with spinocerebellar ataxia" OR "X-linked sideroblastic anemia with spinocerebellar ataxia" OR "anaemia sideroblastic and spinocerebellar ataxia" OR "anemia, sideroblastic, with ataxia, X-linked recessive" OR "sideroblastic anaemia with spinocerebellar ataxia" OR "sideroblastic anemia with spinocerebellar ataxia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked sideroblastic anemia and spinocerebellar ataxia" OR "Pagon-Bird-Detter syndrome" OR "X-linked sideroblastic anemia with ataxia" OR "XLSA-A" OR "X-linked sideroblastic anaemia with spinocerebellar ataxia" OR "X-linked sideroblastic anemia with spinocerebellar ataxia" OR "anaemia sideroblastic and spinocerebellar ataxia" OR "anemia, sideroblastic, with ataxia, X-linked recessive" OR "sideroblastic anaemia with spinocerebellar ataxia" OR "sideroblastic anemia with spinocerebellar ataxia" OR "ABCB7" OR "X-linked cerebellar ataxia" OR "inherited sideroblastic anemia"
Recall-expansion terms: ABCB7, X-linked cerebellar ataxia, inherited sideroblastic anemia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sideroblastic anemia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ASAT
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 (531) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T21:15:25.558Z