ORPHA:284247
Familial retinal arterial macroaneurysm
Also known as: FRAM · Retinal arterial macroaneurysm and supravalvular pulmonic stenosis
Publications
20
33.9th percentile
Trials
1
Interventional, condition-specific
Researchers
112
Distinct authors in sample
Gene link
IGFBP7
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic cardiac disease characterized by an early onset of retinal artery macroaneurysms formation and concomitant supravalvular pulmonic stenosis, often requiring surgical correction.
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:0013640
- OMIM:614224
- UMLS:C3280205
Additional Mondo synonyms (2)
Fram · retinal arterial macroaneurysm and supravalvular pulmonic stenosis
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
Strong — IGFBP7
- LiteraturePresent
20 matched papers (16 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
1 matched on ClinicalTrials.gov (1 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 (IGFBP7).
GenCC classification: Strong.
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?
20
20 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=5449) is 41.
20 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).
16 in the last 10 years · medium confidence · 33.9th percentile (publications denominator)
Phrase hits: 20 · MeSH hits: 0
Who's working on it?
112
Distinct author names in 20 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.
- 01Abu El-Asrar AM3 papers · 2020
Department of Ophthalmology, King Abdulaziz University Hospital, Old Airport Road, P.O. Box 245, Riyadh 11411, Saudi Arabia ; Dr. Nasser Al-Rashid Research Chair in Ophthalmology, Riyadh, Saudi Arabia.
Papers in Europe PMC - 02Alotaibi MD2 papers · 2020
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 03Alsulaiman SM2 papers · 2020
Vitreoretinal Division King Khaled Eye Specialist Hospital, Al Oroubah St, Riyadh, Saudi Arabia.
Papers in Europe PMC - 04Khan AO2 papers · 2022
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. arif.khan@mssm.edu
Papers in Europe PMC - 05Nowilaty SR2 papers · 2022
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Abboud E1 paper · 2020
Posterior Segment Department, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Papers in Europe PMC - 07Abboud EB1 paper · 2022
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.
Papers in Europe PMC - 08Abu-Safieh L1 paper · 2018
Vitreoretinal Division King Khaled Eye Specialist Hospital, Al Oroubah St, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Al Ghamdi B1 paper · 2020
Heart Center, King Faisal Hospital and Research Center, Riyadh, Saudi Arabia.
Papers in Europe PMC - 10Al-Dhibi H1 paper · 2020
Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07589764·NOT YET RECRUITING·A Widely Inclusive, Hybrid-Decentralized Pilot Trial Utilizing β-hydroxy-β-methylbutyrate to Lower IGFBP7 Levels in People With ALS
Conditions: Amyotrophic Lateral Sclerosis ALS·Matched via recall expansion
Observational and natural-history studies
5 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
- NCT03547414·RECRUITING·Does Urinary TIMP2 and IGFBP7 Can Identify High Risk Patients of Progression From Mild and Moderate to Severe Acute Kidney Injury During Septic Shock?
Conditions: Acute Kidney Injury · Septic Shock·Matched via recall expansion
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.
"Familial retinal arterial macroaneurysm" OR "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial retinal arterial macroaneurysm" OR "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis" OR "IGFBP7"
Recall-expansion terms: IGFBP7
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: 1 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FRAM
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 2026-07-27T12:02:18.897Z