---
title: Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP)
nct_id: NCT01511068
overall_status: COMPLETED
phase: PHASE2
sponsor: "Children's Hospital Medical Center, Cincinnati"
study_type: INTERVENTIONAL
primary_condition: Hereditary Pulmonary Alveolar Proteinosis
countries: United States
canonical_url: "https://parkinsonspathways.com/agent/trials/NCT01511068.md"
clinicaltrials_gov: "https://clinicaltrials.gov/study/NCT01511068"
ct_last_update_post_date: 2023-08-30
last_seen_at: "2026-05-12T06:03:40.285Z"
source: ClinicalTrials.gov (mirrored, no enrichment)
---
# Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP)

**NCT ID:** [NCT01511068](https://clinicaltrials.gov/study/NCT01511068)

## Key Facts

- **Status:** COMPLETED
- **Phase:** PHASE2
- **Study Type:** INTERVENTIONAL
- **Target Enrollment:** 2
- **Lead Sponsor:** Children's Hospital Medical Center, Cincinnati
- **Collaborators:** Virginia Commonwealth University, Genzyme, a Sanofi Company
- **Conditions:** Hereditary Pulmonary Alveolar Proteinosis
- **Start Date:** 2012-08
- **Completion Date:** 2014-07
- **CT.gov Last Update:** 2023-08-30

## 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.

## Eligibility

- **Minimum age:** 8 Years
- **Sex:** ALL
- **Healthy Volunteers:** No

```
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
```

## Arms

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

## Interventions

- **Leukine** (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.

## Primary Outcomes

- **Change in Time (Minutes) to Discontinuation of Exercise During a Standardized Treadmill Exercise Test** _(time frame: Baseline, 7 months)_ — A modified Bruce protocol stress test was used to evaluate improvement in blood oxygen saturation (SpO2). A pulse-oximeter was placed on the participant's finger with the participant at rest while sitting in a chair. Leads for the electrocardiograph were placed on the chest wall. The treadmill was started at 1.7 miles per hour (mph) and a grade of 0%. At three minute intervals, the speed increased as follows: 1.7 mph, 1.7 mph, 1.7 mph, 2.5 mph, 3.4 mph, 4.2 mph, 5.0 mph, 5.5 mph, 6.0 mph, 6.5 mph, 7.0 mph, and 7.5 mph. The participant stopped the test due to intolerable dyspnea or if the SpO2 fell below 88%.
- **Change in Minimum Pulse Oximetry During a Standardized Treadmill Exercise Test** _(time frame: Baseline, 7 months)_ — A modified Bruce protocol stress test was used to evaluate improvement in blood oxygen saturation (SpO2). A pulse-oximeter was placed on the participant's finger with the participant at rest while sitting in a chair. Leads for the electrocardiograph were placed on the chest wall. The treadmill was started at 1.7 miles per hour (mph) and a grade of 0%. At three minute intervals, the speed increased as follows: 1.7 mph, 1.7 mph, 1.7 mph, 2.5 mph, 3.4 mph, 4.2 mph, 5.0 mph, 5.5 mph, 6.0 mph, 6.5 mph, 7.0 mph, and 7.5 mph. The participant stopped the test due to intolerable dyspnea or if the SpO2 fell below 88%.

## Secondary Outcomes

- **Change in Diffusion Capacity for Carbon Monoxide** _(time frame: Baseline, 7 months)_
- **Change in Minimum Pulse Oximetry During a Standardized Exercise Protocol Oximetry** _(time frame: Baseline, 7 months)_
- **Change in Radiographic Evidence of PAP Lung Disease** _(time frame: Baseline, 7 months)_
- **Change in Quality of Life** _(time frame: Baseline, 7 months)_
- **Change in Dyspnea Symptom Score** _(time frame: Baseline, 7 months)_
- **Change in Serum Anti-GM-CSF Antibodies Levels** _(time frame: Baseline and monthly up to 7 months)_
- **Change in Serum Biomarkers - GM-CSF** _(time frame: Baseline and monthly up to 7 months)_
- **Change in Serum Biomarkers - Surfactant Protein D** _(time frame: Baseline and monthly up to 7 months)_

## Locations (2)

- Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
- Virginia Commonwealth University, Richmond, Virginia, United States

## Recent Field Changes (last 30 days)

- `status.overallStatus` — added _(2026-05-12)_
- `status.primaryCompletionDate` — added _(2026-05-12)_
- `status.completionDate` — added _(2026-05-12)_
- `status.lastUpdatePostDate` — added _(2026-05-12)_
- `design.phases` — added _(2026-05-12)_
- `design.enrollmentCount` — added _(2026-05-12)_
- `eligibility.criteria` — added _(2026-05-12)_
- `eligibility.minAge` — added _(2026-05-12)_
- `eligibility.sex` — added _(2026-05-12)_
- `outcomes.primary` — added _(2026-05-12)_
- `outcomes.secondary` — added _(2026-05-12)_
- `armsInterventions.arms` — added _(2026-05-12)_
- `armsInterventions.interventions` — added _(2026-05-12)_
- `sponsor.lead` — added _(2026-05-12)_
- `sponsor.collaborators` — added _(2026-05-12)_
- `results.hasResults` — added _(2026-05-12)_
- `locations.cincinnati children's hospital medical center|cincinnati|ohio|united states` — added _(2026-05-12)_
- `locations.virginia commonwealth university|richmond|virginia|united states` — added _(2026-05-12)_

---

*Canonical: https://parkinsonspathways.com/agent/trials/NCT01511068.md*  
*Source data (authoritative): https://clinicaltrials.gov/study/NCT01511068*  
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