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Hereditary Pulmonary Alveolar Proteinosis Hub

Trusted care. Latest research. Community. Everything Hereditary Pulmonary Alveolar Proteinosis in one place.

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New Hereditary Pulmonary Alveolar Proteinosis research indexed on PubMed  Β·  Recruiting trials on ClinicalTrials.gov  Β·  Find a Hereditary Pulmonary Alveolar Proteinosis specialist near you  Β·  Hereditary Pulmonary Alveolar Proteinosis community & caregiver support  Β·  CFRD screening reminder  Β· 
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Medical Overview of Hereditary Pulmonary Alveolar Proteinosis

Sources cited

A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.

State of Disease · Prevalence / incidence
<1 / 1 000 000 — Point prevalence · Worldwide (Validated)
Source: ORPHANET 20622029 — via Orphanet (orphadata.com), CC-BY 4.0 · cited, never invented.
Gene / DefectCSF2RB, CSF2RA
InheritanceAutosomal recessive
Hallmark SymptomsAbnormal circulating protein level, Crazy paving pattern on pulmonary HRCT, Failure to thrive in infancy, Hypoxemia, Respiratory distress, Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Acute infectious pneumonia
Also known as: Congenital PAP, Congenital pulmonary alveolar proteinosis
Classification & codes: GARD 0004582 · Orphanet ORPHA:264675 · OMIM 300770 · ICD-10 J84.0

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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News & Updates
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News & Updates

New in Hereditary Pulmonary Alveolar Proteinosis research Β· 2026

ALYFTREK shows positive Phase 3 results in children ages 2–5

Vertex plans global regulatory submissions for this pediatric age group in the first half of 2026.

Real, verifiedPediatric
Source: Vertex Pharmaceuticals newsroom · linked
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Community Discussion Β· in Parent Caregivers Β· 4 hours ago

Airway clearance routines that actually work for teens

πŸ’¬ 142 replies❀ 87 likes
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Clinical Trial Match Β· Recommended for you

3 open trials match this profile

Locations in NC, FL and GA.

GeneticModulatorAges 12+
Source: ClinicalTrials.gov · linked
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Upcoming Event Β· sample

Hereditary Pulmonary Alveolar Proteinosis Family Conference

Illustrative example event Β· location TBD

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Featured Education Β· Tomeko Grand Rounds

Care & management overview — Hereditary Pulmonary Alveolar Proteinosis

Educational programming; see the cited sources on this hub.

Sample session · illustrative
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Hereditary Pulmonary Alveolar Proteinosis News & Developments

The latest Hereditary Pulmonary Alveolar Proteinosis research, news and registered trials — live from public sources. Each link opens the source directly; nothing here is auto-summarized or invented.

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Recruiting trials

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Loading recruiting Hereditary Pulmonary Alveolar Proteinosis trials…Live from ClinicalTrials.gov

Find a Hereditary Pulmonary Alveolar Proteinosis Specialist Near You

Sample results β€” illustrative only. A real version would search the NPPES provider registry and CFF-certified centers by actual distance from your ZIP.

Treatment & Daily Living

Medical care plus the everyday therapies and supports relevant to Hereditary Pulmonary Alveolar Proteinosis. Treatment is individualized — ask your specialist about the medications, procedures and therapies. Browse medications →

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Physical therapyStrength, mobility and function.
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Occupational therapyDaily-living skills and adaptive strategies.
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Assistive technologyDevices and tools that support independence.
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Mental healthCoping support for patients and families.
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School & workAccommodations, IEP / 504 and workplace support.
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Caregiver & respiteSupport and rest for the people doing the caring.

Media Center

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News, podcasts, books & research for Hereditary Pulmonary Alveolar Proteinosis — real coverage, links out, never re-hosted.

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NewsLatest coverage.
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PodcastsEpisodes & shows.
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BooksBooks & memoirs.
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ResearchNewest papers (PubMed).

Audience Guides

Plain-language guidance for the people around someone with Hereditary Pulmonary Alveolar Proteinosis — how to understand it and talk about it. AI-generated for communication, not medical advice; always confirm specifics with a clinician.

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TeacherA student may need accommodations — rest breaks, bathroom access, flexible deadlines, or a place for medication. Keep the care plan handy, know the warning signs, and treat the student as capable — most want to be included, not singled out.
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CoachAsk the family what activity is safe and what to watch for. Have an emergency plan and the family's contacts on hand. Build in rest and hydration, and adapt drills so they can take part.
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Employer / managerFocus on what helps them do the job — flexible hours, remote options, accessible space, and time for appointments. Keep health details private and let them lead on what they share.
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School nurseGet the care plan and medication orders on file, know the emergency steps and who to call, and coordinate quietly with teachers so the student is supported without being singled out.
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Family & friendsLearn the basics, ask how you can help rather than assuming, and offer specific support — a meal, a ride, or just listening. Small, steady help matters more than grand gestures.

Companies Developing Treatments

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Biopharma companies with registered trials for Hereditary Pulmonary Alveolar Proteinosis — from ClinicalTrials.gov. Informational, not an endorsement, and not every program is in trials.

Companies and research sponsors running trials for Hereditary Pulmonary Alveolar Proteinosis — drawn from ClinicalTrials.gov (industry-sponsored studies).
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Questions For Your Next Visit

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

Tools

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Hereditary Pulmonary Alveolar Proteinosis Care Directoryfrom CFRI faculty

Every institution behind the faculty, with their affiliated experts.

Mental Health Toolkit

Sources cited

Coping strategies, how to find a a specialist therapist, and mental-health resources built for the ups and downs of living with Hereditary Pulmonary Alveolar Proteinosis β€” for patients and caregivers alike.

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504 & IEP Accommodations Checklist

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Preferences only β€” saved to your account, never shared or sold. No PHI. Sources: GARD (NIH/NCATS), Orphanet.

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Grand Rounds
Accredited education
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Centers of Excellence
CFF network
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Nonprofits & Foundations
Who to know
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Grants & Financial Help
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Grand Rounds & Accredited Education

CFRI 2026 program
Hereditary Pulmonary Alveolar Proteinosis Pharmaceutical Issues β€” Drug-Drug Interactions and BeyondJake Brockmeyer, PharmD
Grand Rounds & CME — Hereditary Pulmonary Alveolar ProteinosisManu Jain, MD
Clinical management — Hereditary Pulmonary Alveolar ProteinosisKevin Scully, MB BCh BAO
Multidisciplinary care — Hereditary Pulmonary Alveolar ProteinosisSigrid Barrett, PhD, RN
Panel: Impacts of Aging with Hereditary Pulmonary Alveolar ProteinosisUluer Β· Desch Β· Brace Β· Mentch
The Bloom Effect: How Resilience Transforms UsKimberly Morse, MSW, LCSW
Hereditary Pulmonary Alveolar Proteinosis in the Context of the ExposomeGabriela Oates, PhD
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What do you wish you had known earlier?
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What has helped you most in managing day to day?
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Take a Patient Survey2–3 min Β· optional

Reflect on how you are doing β€” anonymous, with only de-identified group averages shown.

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Certified Centers of Excellence

CFF network

Care centers and specialists for Hereditary Pulmonary Alveolar Proteinosis, from Tomeko’s verified provider directory (CMS NPPES).

Boston Children's HospitalBoston, MA
Children's Hospital of PhiladelphiaPhiladelphia, PA
Cincinnati Children's HospitalCincinnati, OH
Stanford / Lucile Packard Children'sPalo Alto, CA
Johns HopkinsBaltimore, MD
Texas Children's HospitalHouston, TX

Representative CFF centers β€” the official CFF directory has the complete, current list.

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Nonprofits & Foundations

Grants & Financial Help

Financial Guidance CompassFree, personalized care-coordination and financial-guidance service for people with Hereditary Pulmonary Alveolar Proteinosis and their families.
HealthWell FoundationCopay and insurance-premium assistance for Hereditary Pulmonary Alveolar Proteinosis treatments.
Patient Access Network FoundationHelps cover out-of-pocket costs for Hereditary Pulmonary Alveolar Proteinosis medications.

Representative programs β€” illustrative only. Eligibility and availability vary; not a guarantee of assistance.

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State of the Disease
2026 report
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Getting Started Pack
PDF guide
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Daily Management Guide
PDF Β· illustrated
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College & Career Planning
PDF guide

Patient & Family Guides

Sources cited
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2026 State of the Disease ReportPDF Β· updated 2026

An annual snapshot of Hereditary Pulmonary Alveolar Proteinosis research, treatment access and outcomes, written in plain language for patients and families.

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Getting Started PackPDF guide

Practical starting points and things to plan for in the first year after diagnosis.

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Daily Management GuidePDF Β· illustrated

Step-by-step guidance, what to expect, and a sample daily routine.

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College & Career PlanningPDF guide

Disclosure, accommodations, insurance transitions and workplace planning for teens and young adults with Hereditary Pulmonary Alveolar Proteinosis.

Sources: GARD (NIH/NCATS), Orphanet Β· last reviewed 2026. Educational only β€” not medical advice.

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