ORPHA:440402
Interstitial lung disease due to ABCA3 deficiency
Also known as: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,693
Trials
0
Interventional, condition-specific
Researchers
44
Distinct authors in sample
Gene link
ABCA3
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and dyspnea.
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:0012582
- MeSH:C567046
- OMIM:610921
- UMLS:C1970456
Additional Mondo synonyms (3)
interstitial lung disease due to ABCA3 deficiency · interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency · surfactant metabolism dysfunction, pulmonary, type 3
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ABCA3
- LiteraturePresent
2,693 matched papers (1,819 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Paraseptal emphysema; Bronchial wall thickening; Absent bronchoalveolar surfactant-protein C) 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 trialPartial
None under the specific name; 299 for broader category interstitial lung disease
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 (ABCA3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
26
Associated phenotypes · MONDO:0012582
- Paraseptal emphysema
- Bronchial wall thickening
- Absent bronchoalveolar surfactant-protein C
- Crazy paving pattern
- Clubbing
Showing 5 of 26 — 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?
2,693
2,693 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.
2,693 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).
1,819 in the last 10 years · low confidence
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
44
Distinct author names in 2 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.
- 01
- 02
- 03Amoroso A1 paper · 2021
Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy.
Papers in Europe PMC - 04Benetti E1 paper · 2021
Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy.
Papers in Europe PMC - 05Bertani A1 paper · 2021
Division of Thoracic Surgery and Lung Transplantation, Department for the Treatment and Study of Cardiothoracic Diseases and Cardiothoracic Transplantation, IRCCS-ISMETT, Palermo, Italy.
Papers in Europe PMC - 06Boffini M1 paper · 2021
Heart and Lung Transplant Center, Cardiac Surgery Division, Surgical Sciences Department, University of Torino, Torino, Italy.
Papers in Europe PMC - 07Boldrini R1 paper · 2015
Electron Microscopy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 08
- 09Cardillo M1 paper · 2021
National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy.
Papers in Europe PMC - 10Catalano S1 paper · 2021
General Surgery 2U - Liver Transplant Center, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, University of Turin, Torino, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 299 trials are registered for interstitial lung disease, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
299 interventional trials matched interstitial lung disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: interstitial lung disease
299
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
- NCT06068647·RECRUITING·Ultrasound and Respiratory Physiological Signals in Lung Diseases
Conditions: Interstitial Lung Disease · Interstitial Lung Diseases · Interstitial Pneumonia · Chronic Obstructive Pulmonary Disease·Matched via name phrase
- NCT07141810·NOT YET RECRUITING·Efficacy and Safety of Early Antifibrotic Therapy for Non-progressive Fibrotic Interstitial Lung Disease
Conditions: Fibrotic Interstitial Lung Disease·Matched via name phrase
- NCT07333183·RECRUITING·A Study of Mosliciguat in Combination With Inhaled Treprostinil in PH-ILD
Conditions: Pulmonary Hypertension · Interstitial Lung Disease (ILD) · Lung Diseases · Vascular Diseases·Matched via name phrase
- NCT07719218·NOT YET RECRUITING·The Safety and PK Study of Inhaled ICF004 in Healthy Chinese Volunteers
Conditions: Interstitial Lung Disease (ILD) · Healthy Volunteers·Matched via name phrase
- NCT06998706·RECRUITING·REGEND001 Autologous Basal Layer Stem Cell Transplantation for Interstitial Lung Disease (ILD): A Translational Application Study
Conditions: Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT05892614·RECRUITING·Study to Evaluate the Efficacy, Safety, and Tolerability of Efzofitimod in Patients With Systemic Sclerosis (SSc)-Related Interstitial Lung Disease (ILD) (SSc-ILD)
Conditions: Interstitial Lung Disease·Matched via name phrase
- NCT06825169·NOT YET RECRUITING·A Trial to Evaluate the Safety, Tolerability and Preliminary Efficacy of NCR101 in the Treatment of Subjects With Interstitial Lung Disease
Conditions: Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT07570888·NOT YET RECRUITING·This is a Trial Designed to Evaluate the Combination of Nerandomilast With Mycophenolate Across a Wide Variety of Pulmonary Fibrosis Subtypes, With the Aim of Providing Clinicians With Assurance That This is an Appropriate Therapeutic Combination.
Conditions: Pulmonary Fibrosis · Interstitial Lung Disease (ILD)·Matched via name phrase
- NCT07541638·RECRUITING·Early Recognition of Progressive Lung Fibrosis in Systemic Rheumatic Diseases
Conditions: Connective Tissue Diseases · Interstitial Lung Disease·Matched via name phrase
- NCT05120934·RECRUITING·Efficacy of Two Doses of Duloxetine & Amitriptyline in Interstitial Lung Disease-related Cough
Conditions: Interstitial Lung Disease·Matched via name phrase
- NCT07269262·RECRUITING·SUPPORT-T in Patients With Progressive Pulmonary Fibrosis and Their Caregivers
Conditions: Progressive Pulmonary Fibrosis · Interstitial Lung Disease·Matched via name phrase
- NCT06488638·RECRUITING·Pilot Study of Nitrate-rich Beetroot Juice Supplementation in Patients With Idiopathic Pulmonary Fibrosis (IPF)
Conditions: Idiopathic Pulmonary Fibrosis · Interstitial Lung Disease·Matched via name phrase
- NCT03630211·RECRUITING·Autologous Stem Cell Transplantation in Patients With Systemic Sclerosis
Conditions: Systemic Sclerosis · Diffuse Sclerosis Systemic · Interstitial Lung Disease · Pulmonary Hypertension·Matched via name phrase
- NCT06714123·RECRUITING·Senicapoc in Patients With Worsening Fibrotic Interstitial Lung Disease
Conditions: Pulmonary Fibrosis, Interstitial Lung Disease · Idiopathic Pulmonary Fibrosis·Matched via name phrase
- NCT06297096·RECRUITING·Study of the Efficacy of Nintedanib+Tocilizumab in Patients With Systemic Sclerosis and Interstitial Lung Disease
Conditions: Systemic Sclerosis · Interstitial Lung Disease·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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2024-518861-90-00·Authorised·Thromboprophylaxis with apixaban during neoadjuvant therapy for muscle-invasive bladder cancer (ACB): An international randomized controlled trial evaluating apixaban versus no anticoagulation in patients scheduled to undergo radical cystectomy or chemoradiotherapy for muscle-invasive bladder cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-525042-22-00·Authorised·A Study to Evaluate the Safety and Activity of an Inhaled Investigational Drug (RO7616605) in Healthy Volunteers and Participants With COPD
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525810-80-00·Authorised·An Open-Label Study to Assess the Hemodynamic Effect and the Safety of TX000045 After 16 Weeks of Treatment in Participants With Pulmonary Hypertension due to Interstitial Lung Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523482-23-00·Authorised·PITALC. Pilot study on the effect of PITAC (Pressurized IntraThoracic Aerosol Chemotherapy) by videothoracoscopy in patients with malignant pleural effusion in the light of the results of a retrospective historical cohort treated with talc pleurodesis by videothoracoscopy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521493-33-00·Authorised·Macroleave: Impact of discontinuation of long-term macrolides in stable Non Cystic Fibrosis Bronchiectasis : a multicenter randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-510793-24-00·Authorised·Feasibility of fluorescence imaging with bevacizumab-800CW during bronchoscopy in patients with a pulmonary lesion considered to be malignant - DFLECT I
skipped — LLM skipped (--skip-llm)
- ctis·2026-525790-39-00·Authorised·A study to investigate the repeat-dose pharmacokinetics of a combined oral contraceptive when given alone and in combination with ganfeborole in female participants of non-childbearing potential.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518016-39-00·Authorised, recruiting·A Phase 2b/Phase 3, randomized, double-blind, placebo-controlled, multicenter study, to investigate the efficacy and safety of lunsekimig in adult participants with inadequately controlled chronic obstructive pulmonary disease (COPD) characterized by an eosinophilic phenotype
skipped — LLM skipped (--skip-llm)
- ctis·2025-523858-13-01·Authorised·High-dose Insulin Euglycemic Therapy in Non-Toxic Acute Cardiogenic Shock.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521769-29-00·Authorised·A Long-term Open-Label Extension Study of Treprostinil Palmitil Inhalation Powder for Treatment of Pulmonary Hypertension Associated with Interstitial Lung Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-519299-16-00·Authorised·A 2-Part, Phase 3, Multicenter, Randomized, Open-Label, Active-Controlled Study to Assess Efficacy and Safety of REGN7508, a Monoclonal Antibody Against Factor XI, for the Treatment and Secondary Prevention of Venous Thromboembolism in Participants with Solid and Hematologic Cancers (ROXI-CAT-II)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526167-38-00·Authorised·ALBUMINUS: Dose reduction of human albumin during large-volume paracentesis in patients with cirrhosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523403-29-00·Authorised·A Randomized, Double-blinded, Placebo-controlled, Parallel Group, Phase 2a Study to Assess the Activity, Safety, and Tolerability of SAR445399 in Adult Participants with Non-Cystic Fibrosis Bronchiectasis (NCFB).
skipped — LLM skipped (--skip-llm)
- ctis·2026-525766-21-01·Authorised·USEFULNESS OF HIGH-FLOW OXYGEN THERAPY TO IMPROVE THE SAFETY OF PATIENTS AT HIGH RISK OF HYPOXEMIA UNDERGOING DIGESTIVE ENDOSCOPY UNDER DEEP SEDATION: A RANDOMIZED MULTICENTER COMPARATIVE STUDY. THE ENDOALF-TRIAL.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524976-40-00·Authorised·ECSIP : Early Corticosteroids in Severe Influenza Pneumonia, a phase III randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524337-11-00·Authorised·A Phase 3, Randomized, Open-label, Multicenter Study to Compare the Efficacy and Safety of BMS-986353, CD19-targeted NEX-T CAR T Cells, Versus Standard of Care in Participants with Active Systemic Sclerosis (Breakfree-SSc)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522373-10-00·Authorised·IM0271016: An Open-label, Multi-center, Long-term Extension Study to Evaluate the Long-term Safety and Tolerability of Admilparant in Participants with Pulmonary Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518587-12-00·Authorised·C4531031 - AN INTERVENTIONAL PHASE 2/3, RANDOMIZED, DOUBLE-BLIND, THIRD PARTY-UNBLINDED, PLACEBO-CONTROLLED, PARALLEL-GROUP STUDY TO INVESTIGATE EFFICACY AND SAFETY OF PF-07275315 IN ADULT PARTICIPANTS WITH MODERATE-TO-SEVERE CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524240-35-00·Authorised·OFA-VATS : Impact of opioid free anesthesia on postoperative quality of recovery and analgesia after video or robot assisted thoracic surgery
skipped — LLM skipped (--skip-llm)
- ctis·2025-524110-28-00·Authorised·Pulmonary Embolism & Anticoagulation Evaluation in Cancer Patient - PEACE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524395-30-00·Authorised·Discontinuation or Continuation of SGLT-2 Inhibitors Before Cardiac Surgery: Impact on Postoperative Cardiovascular Outcomes – DISCO Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-524821-42-00·Authorised, ongoing·Erdosteine effect on oxidative stress, inflammatory response and immune modulation in patients with COPD. A single center, open label, double arm, controlled, 4-week, explorative, ex vivo study.
skipped — LLM skipped (--skip-llm)
- ctis·2025-525153-39-00·Authorised·Effect of vasopressin versus norepinephrine on post-operative mean pulmonary arterial pressure following pulmonary endarterectomy surgery, a randomized open label trial
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 Interstitial lung disease due to ABCA3 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.
("Interstitial lung disease due to ABCA3 deficiency" OR "Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" OR "surfactant metabolism dysfunction, pulmonary, type 3") OR (MESH:"Surfactant Metabolism Dysfunction, Pulmonary, 3") OR ("ABCA3" OR "ABCA3 syndrome" OR "ABCA3-related")MeSH descriptor terms unioned into the query: Surfactant Metabolism Dysfunction, Pulmonary, 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Interstitial lung disease due to ABCA3 deficiency" OR "Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency" OR "surfactant metabolism dysfunction, pulmonary, type 3" OR "Surfactant Metabolism Dysfunction, Pulmonary, 3"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"interstitial lung disease"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
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 (2693) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:21:29.505Z