Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP) (FAMPAP)

Cincinnati Children's Hospital Medical Center

Status and phase: Completed; Phase 2

Conditions: Hereditary Pulmonary Alveolar Proteinosis

Treatments: Drug: Leukine

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT01511068

2011-0959_CCHMC_IRB

Details and patient eligibility

About

The purpose of this study is to evaluate the therapeutic efficacy of inhaled recombinant human GM-CSF in individuals with hereditary Pulmonary Alveolar Proteinosis (PAP) due to partial dysfunction of the GM-CSF receptor.

Enrollment: 2 patients

Sex: All

Ages: 8+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• A diagnosis of PAP caused by bi-allelic mutations in CSF2RA or CSF2RB associated with impaired GM-CSF-R-alpha or GM-CSF-R-beta function, respectively, resulting in reduced but non-zero GM-CSF signaling
• Able and willing to give written informed consent / assent as necessary
• Clinically stable

Exclusion criteria

• Confirmed diagnosis of a disorder of surfactant production caused by bi-allelic mutations in ABCA3, SFTPB, or SFTPC
• Confirmed diagnosis of autoimmune PAP caused by a high level of GM-CSF autoantibody
• Confirmed diagnosis of secondary PAP caused by an underlying clinical disorder known to be associated with the development of PAP, e.g., inhalation of silica or titanium; myelodysplasia and others
• Treatment with any investigational agent in the 3 months prior to enrollment
• History of severe allergic or anaphylactic reactions to GM-CSF or other yeast-derived products
• History of asthma or other reactive airways disease
• Known active, viral, fungal, mycobacterial, or other infection
• A serious medical condition which, in the opinion of the investigator or data and safety monitoring committee, would make the patient unsuitable for the study

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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2 participants in 1 patient group

Inhaled Leukine (rhGM-CSF)

Experimental group

Description:

Inhaled recombinant human GM-CSF in individuals with hereditary Pulmonary Alveolar Proteinosis (hPAP) due to partial dysfunction of the GM-CSF receptor

Treatment:

Drug: Leukine