ORPHA:217382
Neurodegenerative syndrome due to cerebral folate transport deficiency
Also known as: Cerebral folate deficiency · Cerebral folate transport deficiency · Folate receptor alpha deficiency
Publications
2,801
Trials
0
Interventional, condition-specific
Researchers
1,002
Distinct authors in sample
Gene link
FOLR1
Definitive
Readiness
3/6
Stages with a signal
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:0013110
- MeSH:C567791
- OMIM:613068
- UMLS:C2751584
Additional Mondo synonyms (1)
neurodegenerative syndrome due to cerebral folate transport deficiency
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
Definitive — FOLR1
- LiteraturePresent
2,801 matched papers (2,122 in last 10 years) Source
- Phenotype characterisedPresent
4 HPO annotations (e.g. Developmental regression; Seizure; Intellectual disability) 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 (FOLR1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
4
Associated phenotypes · MONDO:0013110
- Developmental regression
- Seizure
- Intellectual disability
- Neurodegeneration
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?
2,801
2,801 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.
2,801 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).
2,122 in the last 10 years · low confidence
Phrase hits: 512 · MeSH hits: 1
Who's working on it?
1,002
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.
- 01Frye RE13 papers · 2026
Autism Discovery and Treatment Foundation, Phoenix, AZ 85050, USA.
Papers in Europe PMC - 02Quadros EV12 papers · 2025
Department of Medicine, SUNY-Downstate Medical Center, Brooklyn, New York, NY, USA.
Papers in Europe PMC - 03Ramaekers VT8 papers · 2022
Center of Autism, University Hospital Liège (CHU), Liège, Belgium.
Papers in Europe PMC - 04Sequeira JM8 papers · 2025
Department of Medicine, SUNY-Downstate Medical Center, Brooklyn, New York, NY, USA.
Papers in Europe PMC - 05Bendayan R6 papers · 2026
Department of Pharmaceutical Sciences, Leslie Dan Faculty of Pharmacy, University of Toronto, Toronto, ON M5S 3M2, Canada; r.bendayan@utoronto.ca.
Papers in Europe PMC - 06Blau N6 papers · 2026
Division of Inborn Metabolic Diseases, University Children's Hospital, Heidelberg, Germany.
Papers in Europe PMC - 07Finnell RH6 papers · 2024
Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Molecular and Cellular Biology, Molecular and Human Genetics, and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: Richard.Finnell@bcm.edu.
Papers in Europe PMC - 08Artuch R5 papers · 2020
Centre For research in rare diseases (CIBERER), Institut de Salud Carlos III, Madrid, Spain. rartuch@hsjdbcn.org.
Papers in Europe PMC - 09Ayoub G5 papers · 2025
Psychology Department, Santa Barbara City College, Santa Barbara, CA 93109, USA.
Papers in Europe PMC - 10Cabrera RM5 papers · 2024
Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA.
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.
low 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.
Recruiting or not-yet-recruiting
- NCT06213090·RECRUITING·Patterns of Neurodevelopmental Disorders
Conditions: Neurodevelopmental Disorders · Autism Spectrum Disorder · Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection · Pediatric Acute-Onset Neuropsychiatric Syndrome·Matched via name phrase
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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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).
Uncertain / not reviewed (4)
- isrctn·ISRCTN96269039·No longer recruiting·Pilot study of folinic acid vs folic acid supplementation in pregnant women with folate receptor alpha autoantibodies to lower the risk of autism and learning disorders in their children
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN58435532·No longer recruiting·Amyloid imaging in Alzheimer's disease, frontotemporal dementia and healthy volunteers
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN41926726·No longer recruiting·Supplementation with Folate (and vitamins B6 and B12) and/or Omega 3 Fatty Acids on the prevention of recurrent ischaemic events in patients who have already experienced a coronary or cerebrovascular event
skipped — LLM skipped (--skip-llm)
- ctis·2023-503730-45-00·Authorised, ongoing·Folinic acid therapy in patients with Kearns-Sayre syndrome (KSS) and cerebral folate deficiency - mitoFolat
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 Neurodegenerative syndrome due to cerebral folate transport 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.
("Neurodegenerative syndrome due to cerebral folate transport deficiency" OR "Cerebral folate deficiency" OR "Cerebral folate transport deficiency" OR "Folate receptor alpha deficiency") OR (MESH:"Neurodegeneration Due To Cerebral Folate Transport Deficiency") OR ("FOLR1" OR "FOLR1 syndrome" OR "FOLR1-related")MeSH descriptor terms unioned into the query: Neurodegeneration Due To Cerebral Folate Transport Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neurodegenerative syndrome due to cerebral folate transport deficiency" OR "Cerebral folate deficiency" OR "Cerebral folate transport deficiency" OR "Folate receptor alpha deficiency" OR "Neurodegeneration Due To Cerebral Folate Transport Deficiency"
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 (2801) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:50:09.005Z