ORPHA:97229
Riboflavin transporter deficiency
Also known as: Brown-Vialetto-van Laere syndrome
Publications
378
73.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,066
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic motor neuron disease characterized by a peripheral and cranial , neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.
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:0008891
- MeSH:C537111
- UMLS:C4551777
Additional Mondo synonyms (4)
Fazio-Londe syndrome · disorder of riboflavin transmembrane transporter activity · riboflavin transmembrane transporter activity disease · sensorineural hearing loss-pontobulbar palsy syndrome
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.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
378 matched papers (271 in last 10 years) Source
- Phenotype characterisedPresent
111 HPO annotations (e.g. Facial palsy; Hearing impairment; Hypotonia) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
111
Associated phenotypes · MONDO:0008891
- Facial palsy
- Hearing impairment
- Hypotonia
- Gait imbalance
- Tongue atrophy
Showing 5 of 111 — 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?
378
378 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.
378 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).
271 in the last 10 years · medium confidence · 73.3th percentile (publications denominator)
Phrase hits: 378 · MeSH hits: 10
Who's working on it?
1,066
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.
- 01Compagnucci C11 papers · 2026
Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy claudia.compagnucci@opbg.net.
Papers in Europe PMC - 02Houlden H11 papers · 2025
Department of Molecular Neuroscience and MRC Centre for Neuromuscular Diseases, Institute of Neurology, London WC1N 3BG, UK
Papers in Europe PMC - 03Bertini E10 papers · 2026
Department of Neuroscience, Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Papers in Europe PMC - 04Tartaglia M10 papers · 2025
Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Papers in Europe PMC - 05
- 06Colasuonno F8 papers · 2024
Department of Science, LIME, University Roma Tre, Rome 00146, Italy.
Papers in Europe PMC - 07Indiveri C8 papers · 2026
Department DiBEST (Biologia, Ecologia, Scienze della Terra), Unit of Biochemistry and Molecular Biotechnology, University of Calabria, Arcavacata di Rende, Italy.
Papers in Europe PMC - 08Moreno S8 papers · 2024
Department of Science, LIME, University Roma Tre, Rome 00146, Italy.
Papers in Europe PMC - 09Ashokkumar B7 papers · 2025
Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai 625021, India. rbashokkumar@yahoo.com.
Papers in Europe PMC - 10Barile M7 papers · 2026
Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari, Bari, Italy.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 Riboflavin transporter deficiency — 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.
"Riboflavin transporter deficiency" OR "Brown-Vialetto-van Laere syndrome" OR "Fazio-Londe syndrome" OR "disorder of riboflavin transmembrane transporter activity" OR "disorder of the riboflavin transmembrane transporter activity" OR "riboflavin transmembrane transporter activity disease" OR "sensorineural hearing loss-pontobulbar palsy syndrome"
MeSH descriptor terms unioned into the query: Brown-Vialetto-Van Laere syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Riboflavin transporter deficiency" OR "Brown-Vialetto-van Laere syndrome" OR "Fazio-Londe syndrome" OR "disorder of riboflavin transmembrane transporter activity" OR "disorder of the riboflavin transmembrane transporter activity" OR "riboflavin transmembrane transporter activity disease" OR "sensorineural hearing loss-pontobulbar palsy syndrome"
Study-type breakdown: 0 interventional · 2 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
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 (378) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T05:02:27.827Z