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

NCT ID: NCT01511068

Last Updated: 2023-08-30

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 2 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2012-08-31
• Study Completion Date: 2014-07-31

Brief Summary

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.

Conditions

Hereditary Pulmonary Alveolar Proteinosis

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Inhaled Leukine (rhGM-CSF)

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

Group Type: EXPERIMENTAL

Leukine

Intervention Type: DRUG

Participants will receive inhaled rhGM-CSF (Sargramostim, Leukine) at the dose of 250 mcg one time per week for 12 weeks. Following an interim safety evaluation, participants may be entered into a second 12 week treatment period where participants will receive either 250 mcg or 500 mcg once weekly. At the end of any treatment period, participants will be followed for 12 additional weeks in the absence of inhaled rhGM-CSF to evaluate safety and efficacy.

Interventions

Leukine

Participants will receive inhaled rhGM-CSF (Sargramostim, Leukine) at the dose of 250 mcg one time per week for 12 weeks. Following an interim safety evaluation, participants may be entered into a second 12 week treatment period where participants will receive either 250 mcg or 500 mcg once weekly. At the end of any treatment period, participants will be followed for 12 additional weeks in the absence of inhaled rhGM-CSF to evaluate safety and efficacy.

Intervention Type: DRUG

Other Intervention Names

GM-CSF [Leukine (Sargramostim)]

Eligibility Criteria

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

• Minimum Eligible Age: 8 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Virginia Commonwealth University

OTHER

Sponsor Role: collaborator

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Bruce Trapnell, MD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Bruce Rubin, MD, FRCPC

Role: PRINCIPAL_INVESTIGATOR

Virginia Commonwealth University

Locations

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Virginia Commonwealth University

Richmond, Virginia, United States

Countries

United States

Other Identifiers

2011-0959_CCHMC_IRB

Identifier Type: -

Identifier Source: org_study_id

NCT01534156

Identifier Type: -

Identifier Source: nct_alias