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
512
Trials
4
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — FOLR1
- LiteraturePresent
512 matched papers (349 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 trialPresent
4 matched on ClinicalTrials.gov (2 recruiting in sample)
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)
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?
512
512 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.
512 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).
349 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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07227571·RECRUITING·Genetically Engineered Cells (FH-FOLR1 ST CAR T Cells) for the Treatment of Advanced Refractory or Recurrent/Progressive Osteosarcoma, FIERCe Trial
Conditions: Advanced Osteosarcoma · Recurrent Osteosarcoma · Refractory Osteosarcoma·Matched via recall expansion
- NCT06609928·RECRUITING·FH-FOLR1 Chimeric Antigen Receptor T Cell Therapy for Treating Pediatric Patients With Relapsed or Refractory Acute Myeloid Leukemia
Conditions: Recurrent Childhood Acute Myeloid Leukemia · Refractory Childhood Acute Myeloid Leukemia·Matched via recall expansion
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
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.
"Neurodegenerative syndrome due to cerebral folate transport deficiency" OR "Cerebral folate deficiency" OR "Cerebral folate transport deficiency" OR "Folate receptor alpha deficiency"
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" OR "FOLR1"
Recall-expansion terms: FOLR1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 (512) 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