Children's Interstitial Lung Disease Foundation

Patient-Partnered Collaboration

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Children’s Interstitial and Diffuse Lung Disease (chILD) is not a single disease. Instead, it is a group of rare lung diseases found in infants, children, and adolescents. There are different types of chILD that vary in their severity and in their long-term outcomes. In simplest terms, all types of chILD decrease a child’s ability to supply oxygen to their body.

Last updated 04/30/2026

Clinical

Disease Class

Allergic disease

Developmental anomalies during embryogenesis

Diseases due to toxic effects

Disorder without a determined diagnosis after full investigation

Gastroenterological diseases

Genetic diseases

Immunological diseases

Lysosomal and storage diseases

Mitochondrial disease

Multi-system genetic syndromes

Neurological diseases

Protein synthesis and tRNA disorders

Respiratory diseases

Skin diseases

Systemic and rheumatological diseases of childhood

Telomere biology disorders

Transplant-related diseases

Vascular disease

Body Systems

Cardiovascular / Circulatory

Hematopoietic / Lymphatic / Immune

Metabolic

Nervous / Sensory

Respiratory

Organs

Arteries

Connective tissue / joints

Heart

Lungs

Lymph fluid, nodes, ducts, vessels

Trachea, cervical

Veins

Known Genetic Link

Yes, there are both genes that cause the condition and genetic factors that contribute

Causative Genes

ABCA3

ACVRL1

BRAF

CCR2

COPA

CSF2RA

CSF2RB

CTLA4

DOCK8

ENG

FGF10

FLNA

FOXF1

FOXP3

GATA2

GBA

LAMP3

LRBA

NKX2-1

PIK3CD

PIK3R1

RAB5B

SFTPB (SP-B)

SFTPC (SP-C)

SLC34A2

SMPD1

STAT3

STAT5B

STING1 (TMEM173)

TBX4

TTF1

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

X-linked dominant

X-linked recessive

Newborn Screening

Disease Mechanism(s)

Aberrant immune response

Abnormal cell proliferation

Abnormal protein degradation

Abnormal telomere maintenance

Altered DNA repair mechanism

Autoimmune Disease

Autoinflammatory disorder

Autophagy defect

Cell signaling defects

Chromatin remodeling/epigenetic defect

Endosomal/lysosomal defect

Enzyme deficiency

Extracellular matrix abnormality

Glycogen-related defects

Golgi/ER dysfunction

Immune deficiencies

Lipid metabolism disorder

Protein misfolding

Pulmonary surfactant defect

RNA processing/splicing defect

Transcriptional regulation defect

Transport defect

Unknown

Vascular/Angiogenesis Defects

Vesicle trafficking defect

tRNA charging/aminoacylation defect (aminoacyl-tRNA synthetase disorders)

Age of Onset

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Prebirth

Average Age at Diagnosis

Adolescence (12-17)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

11-50

Global Incidence

51-100

Symptoms / Phenotypes

abnormal digit morphology

breathing difficulties

crackles

cyanosis

exercise intolerance

failure to thrive

fatigue

feeding difficulties

hypoxemia

infection, lung

pulmonary fibrosis

pulmonary hypertension

respiratory insufficiency / respiratory failure

Biomarkers

Diagnostic

· Genetic mutations (SFTPB, SFTPC, ABCA3, NKX2-1, TBX4, FOXF1, FLNA, COPA, TMEM173, immune dysregulation genes, telomere genes, BRAF V600E); telomere length; anti-GM-CSF antibodies; autoantibodies (ANA, anti-synthetase, ANCA, anti-GBM); serum precipitins; immunoglobulin levels; lymphocyte subsets; DHR test (CGD); BAL surfactant protein levels; BAL cell differentials (eosinophils, lymphocytes, hemosiderin-laden macrophages); lung biopsy histopathology patterns; elevated serum ACE (sarcoidosis)

Monitoring

· Pulmonary function tests (FVC, TLC, DLCO, FRC); pulse oximetry (resting, ambulatory, overnight); 6-minute walk distance and desaturation; serial chest CT; KL-6 and SP-D trends (some centers); BNP/NT-proBNP; echocardiogram; inflammatory markers (CRP, ESR); growth parameters; CBC; liver/kidney function

Other

· Research biomarkers: circulating fibrocytes, chemokines/cytokines, microRNAs, exhaled breath condensate, cell-free DNA; patient-reported outcomes (symptom scores, quality of life measures); nutritional markers (albumin); infection surveillance cultures

Prognostic

· Specific genetic mutations (null SFTPB, biallelic ABCA3, TINF2, FOXF1); KL-6; SP-D; MMP-7; telomere length; baseline and declining Pulmonary function including FVC/TLC/DLCO; CT fibrosis extent; pulmonary artery systolic pressure; BNP/NT-proBNP; histologic pattern on biopsy; fibroblastic foci on biopsy; oximetry

Therapeutic

· GM-CSF antibodies (predict PAP treatment response); BRAF V600E (predict response to BRAF inhibitors); specific genetic mutations (guide targeted therapies); telomere length (guide immunosuppression decisions); inflammatory markers (treatment response); drug levels (immunosuppressants); immunoglobulin levels

Existing Therapies

Alternative treatments (eg. nutritional supplements)

Expanded access (Compassionate Use)

Off-Label Drug Use

Other

· Respiratory support (CPAP, BiPAP, mechanical ventilation, tracheostomy, high-flow nasal cannula, ECMO); airway clearance (chest physiotherapy, vest therapy, cough assist); whole lung lavage (for PAP); physical/occupational/speech therapy; nutritional support; preventive care (vaccinations, infection control); pulmonary rehabilitation; psychosocial support; palliative/hospice care; medical equipment

Regulatory Agency-Approved for Symptom Relief

· Supplemental oxygen; inhaled bronchodilators (albuterol); inhaled corticosteroids; diuretics (furosemide); antibiotics; antivirals; antifungals; palivizumab (RSV prophylaxis); trimethoprim-sulfamethoxazole (PJP prophylaxis); IVIG for primary immunodeficiencies; feeding tubes; pulmonary hypertension medications (sildenafil, bosentan, epoprostenol, others)

Regulatory Agency-Approved to Cure or Modify the Disease

· Enzyme replacement therapies (imiglucerase, velaglucerase for Gaucher; alglucosidase alfa for Pompe; olipudase alfa for Niemann-Pick B); lung transplantation; bone marrow/stem cell transplantation (for CGD, DOCK8, IPEX, HLH, SCID, other PIDs)

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

Gene therapy

Immunotherapy

Repurposed drug

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

Organizational & Research

Cell Lines

iPSCs

Cell Lines, Institution

Boston Children's Hospital

Cell Lines, Involvement

Funded

Cell Lines, share

All our cell lines are freely available

Disease Model

None

Disease Model, share

Unknown

Organizational Challenges

The chILD Foundation would greatly benefit from collaboration on: (1) natural history studies and registry infrastructure, (2) outcome measure development and validation, (3) innovative clinical trial designs for ultra-rare populations, (4) regulatory strategy and advocacy, (5) biomarker discovery and validation, (6) preclinical model development, and (7) funding strategies.

Clinical Trial Role

Focus group

Recruitment and outreach, patients

Clinical Trial Types

Phase 3

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Data Entered by, Registry

Clinicians

Platform, Registry

REDCap

Natural History Study

No, we do not have a natural history study, but we plan to create or collaborate on one

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

We use an ICD-11 code capturing the family of diseases to which our disease belongs

Yes, we have an ICD-10 code specific to our exact disease

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Does not have an SAB

Research Network Policies

Does not have a CRN

Patient Priority Survey

Yes

Patient Priority Survey, share

Research Roadmap

We don't have a Research Roadmap

None

Asia

Europe

North America

Oceania

South America

Europe

Oceania

South America