ORPHA:438114
RARS-related autosomal recessive hypomyelinating leukodystrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
49
Distinct authors in sample
Gene link
RARS1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic leukodystrophy characterized by , increased muscle tone leading later to spasticity, mild , nystagmus, dysarthria, intentional tremor, and mild . Brain imaging reveals supratentorial and infratentorial hypomyelination.
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:0014506
- OMIM:616140
- UMLS:C4015323
Additional Mondo synonyms (5)
HLD9 · RARS leukodystrophy · hypomyelinating leukodystrophy type 9 · leukodystrophy caused by mutation in RARS · leukodystrophy, hypomyelinating, type 9
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 — RARS1
- LiteraturePresent
3 matched papers (3 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; 31 for broader category leukodystrophy
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 (RARS1).
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?
3
3 papers have ever been indexed 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=5449) is 41.
3 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).
3 in the last 10 years · medium confidence · 15.2th percentile (publications denominator)
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
49
Distinct author names in 3 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.
- 01Al Amri S1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 02Al Dughaishi T1 paper · 2022
Department of Obstetrics and Gynaecology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
Papers in Europe PMC - 03Al Fahdi B1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 04Al Hashmi N1 paper · 2022
National Genetic Centre, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 05Al Kharusi K1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 06Al Kindy A1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 07Al Murshedi F1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
Papers in Europe PMC - 08Al Riyami N1 paper · 2022
Department of Obstetrics and Gynaecology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
Papers in Europe PMC - 09Al Salmani M1 paper · 2022
Department of Obstetrics and Gynaecology, Fetal Medicine Unit, Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Papers in Europe PMC - 10Al Sayegh A1 paper · 2022
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital & Department of Genetics, Sultan Qaboos University, Muscat, Sultanate of Oman.
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). 31 trials are registered for leukodystrophy, 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.
medium 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.
31 interventional trials matched leukodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: leukodystrophy
31
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.
Recruiting under the broader category
- NCT06369974·ENROLLING BY INVITATION·Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
Conditions: Genetic Disease·Matched via name phrase
- NCT05443906·RECRUITING·Home Exercise for Individuals with Neurodegenerative Disease
Conditions: Neurodegenerative Diseases · Leukodystrophy · Ataxia · LBSL·Matched via name phrase
- NCT03725670·RECRUITING·Direct Lentiviral Injection Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
- NCT02254863·RECRUITING·UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
Conditions: Adrenoleukodystrophy · Batten Disease · Mucopolysaccharidosis II · Leukodystrophy, Globoid Cell·Matched via name phrase
- NCT07046338·RECRUITING·Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
Conditions: Metachromatic Leukodystrophy (MLD)·Matched via name phrase
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.
"RARS-related autosomal recessive hypomyelinating leukodystrophy" OR "RARS leukodystrophy" OR "hypomyelinating leukodystrophy type 9" OR "leukodystrophy caused by mutation in RARS" OR "leukodystrophy, hypomyelinating, type 9"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"RARS-related autosomal recessive hypomyelinating leukodystrophy" OR "RARS leukodystrophy" OR "hypomyelinating leukodystrophy type 9" OR "leukodystrophy caused by mutation in RARS" OR "leukodystrophy, hypomyelinating, type 9" OR "RARS1"
Recall-expansion terms: RARS1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"leukodystrophy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HLD9
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
Ingested 2026-07-27T16:11:36.797Z