64 Participants Needed

CFTR Modulator Therapy for Cystic Fibrosis

(HyPOINT Trial)

Recruiting at 3 trial locations
CS
KT
Overseen ByKelly Thornton, BS
Age: < 65
Sex: Any
Trial Phase: Phase 4
Sponsor: Children's Hospital Medical Center, Cincinnati
Must be taking: CFTR modulators
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Prior Safety DataThis treatment has passed at least one previous human trial

Trial Summary

What is the purpose of this trial?

The introduction of triple combination CFTR modulator therapy for patients with Cystic Fibrosis (CF) with at least one copy of the deltaF508 mutation is expected to provide major health benefits, but will also require novel outcome measures that can detect CF lung disease at an early stage, capture the efficacy of new therapies when disease manifestations are limited, as well as determine whether stopping existing chronic maintenance therapies does not have negative effects. In the past decade, research has focused on the multiple breath washout (MBW) test, as a sensitive outcome measure, especially if highly-effective modulator therapies are initiated in early childhood. Even LCI, however, may not adequately capture early lung function changes, thus warranting investigation of even more sensitive outcome measures. Magnetic resonance imaging (MRI) has the advantage of being a radiation-free modality, making it more suitable for assessing response to therapy in a shorter time frame with repeated imaging. Inhalation of a hyperpolarized gas enables the visualization and quantification of regional ventilation in the lung and can be combined with structural MRI to assess both structure and function in parallel. The main Investigator and others have recently formed an international consortium (the 129Xe MRI Clinical Trial Consortium), comprised of both imaging experts and pulmonary clinicians to standardize imaging procedures, thus facilitating multi-site implementations. Data from this proposed study (HyPOINT; Hyperpolarized Imaging for New Treatments) will inform the future utility of MRI for both longitudinal studies to track disease progression over time as well as for future interventional trials. Further, the current study could inform the design of future trials of interventions of patients for whom currently no effective CFTR modulator therapy is available and for patients with rare genotypes thus laying the groundwork for a more personalized medicine approach in the near-term future.

Will I have to stop taking my current medications?

The trial does not specify if you need to stop taking your current medications, but it does require that there be no changes in your chronic pulmonary medications or therapies in the 28 days before the first visit. This suggests you should continue your current medications without changes before starting the trial.

What data supports the effectiveness of the treatment Hyperpolarized Imaging for Cystic Fibrosis?

Research shows that hyperpolarized MRI, using gases like helium-3 and xenon-129, can effectively detect ventilation defects in cystic fibrosis patients, providing detailed functional information that traditional imaging methods might miss. This imaging technique has been used to assess the response to CFTR modulator therapies, like ivacaftor, which have shown clinical benefits in improving lung function and mucus clearance in patients with specific genetic mutations.12345

Is CFTR modulator therapy safe for humans?

CFTR modulator therapies, used to treat cystic fibrosis, are generally well-tolerated but can have side effects. Real-world studies show that some people experience adverse events like respiratory issues, mental health changes, and liver problems, which may lead to stopping the treatment. It's important to monitor for these side effects, and healthcare providers, including pharmacists, play a key role in managing them.36789

How does the drug ivacaftor differ from other treatments for cystic fibrosis?

Ivacaftor is unique because it specifically targets the underlying cause of cystic fibrosis by improving the function of the defective CFTR protein, which helps to increase ion transport and reduce mucus viscosity in the lungs. This mechanism is different from other treatments that mainly address symptoms rather than the root cause of the disease.1341011

Research Team

JW

Jason Woods, PhD

Principal Investigator

Children's Hospital Medical Center, Cincinnati

Eligibility Criteria

This trial is for people with Cystic Fibrosis who have at least one deltaF508 mutation. They must be able to follow the study schedule, give consent, and have been stable on certain CFTR modulators or not on any such therapy. Ages vary by phase: 6-18 for Phase 1 and 9-18 for Phase 2. Participants need normal organ function and no recent acute illness.

Inclusion Criteria

Written informed consent (and assent when applicable) obtained from subject or subject's legal representative
I can follow the study's schedule and requirements.

Exclusion Criteria

Any other condition that, in the opinion of the Site Investigator/designee, would preclude informed consent or assent, make study participation unsafe, complicate interpretation of study outcome data, or otherwise interfere with achieving the study objectives
I am not pregnant or breastfeeding.
You cannot have metal implants or be claustrophobic for a standard MRI.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Phase 1: Baseline and Repeated 129Xe MRI Scanning

Implementation of a centralized analysis program of repeated 129Xe MRI scanning in CF patients with mild lung disease to define the intra-subject variability of the primary outcome ventilation defect percentage (VDP).

4 weeks
Multiple visits for MRI scanning

Phase 2: Observational Study with Triple-Combination Modulator Therapy

Patients assessed before and after the clinical initiation of triple-combination modulator therapy, with primary endpoint being the change of VDP after 28 days.

12 months
Visits at 28 days, 6 months, and 12 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

  • Hyperpolarized Imaging
Trial Overview The trial tests a new way to monitor lung health in Cystic Fibrosis using MRI with hyperpolarized gas, which shows both structure and function of lungs without radiation. It aims to see if this can detect early changes better than current methods when starting triple combination CFTR modulator therapy.
Participant Groups
2Treatment groups
Experimental Treatment
Group I: Phase 1Experimental Treatment1 Intervention
Phase 1 will include implementation of a centralized analysis program of repeated 129Xe MRI scanning in CF patients with mild lung disease to define the intra-subject variability of the primary outcome ventilation defect percentage (VDP). Patients will undergo baseline 129Xe MRI scanning and repeated measurements the same day, as well as at 28 days (± 7 days). Phase 1 will establish the intra-subject reproducibility to facilitate future use of 129Xe MRI in multi-site studies. Furthermore, the reproducibility limits defined will inform the overall design of future studies and will compare to established pulmonary function and multiple-breath washout testing (via measurement of the lung clearance index, LCI).
Group II: Initiation of CFTR ModulatorExperimental Treatment1 Intervention
Phase 2 will be an observational study of patients assessed before and after the clinical initiation of triple-combination modulator therapy (after presumed FDA and Health Canada approval). The primary endpoint for Phase 2 is the change of VDP after 28 days of triple-combination modulator therapy. Within Phase 2, this study will also address how highly-effective modulator therapies affect lung function trajectories by measuring 129Xe MRI at 28 days (± 7 days), 6 months (± 28 days), and 12 months (± 28 days) after start of therapy (paralleling time points of the PROMISE study). Finally, to understand how 129Xe MRI can be used in combination with existing measures of lung function (e.g. spirometry, multiple breath washout), the investigators will directly compare the repeated data collected in both Phase 1 and Phase 2 to these established measures of lung function that are currently used in observational and interventional studies.

Find a Clinic Near You

Who Is Running the Clinical Trial?

Children's Hospital Medical Center, Cincinnati

Lead Sponsor

Trials
844
Recruited
6,566,000+

University of Virginia

Collaborator

Trials
802
Recruited
1,342,000+

University of Wisconsin, Madison

Collaborator

Trials
1,249
Recruited
3,255,000+

The Hospital for Sick Children

Collaborator

Trials
724
Recruited
6,969,000+

Findings from Research

Hyperpolarized 129Xe MRI can effectively detect ventilation defects in pediatric patients with mild cystic fibrosis (CF), even when traditional measures like FEV1 show normal results, indicating its potential as a sensitive diagnostic tool.
In a study of 22 participants (11 healthy controls and 11 CF patients), the ventilation defect percentage (VDP) was significantly higher in CF patients (18.3%) compared to controls (6.4%), suggesting that 129Xe MRI may be a valuable method for monitoring lung function and disease progression in young CF patients.
Hyperpolarized 129Xe for investigation of mild cystic fibrosis lung disease in pediatric patients.Thomen, RP., Walkup, LL., Roach, DJ., et al.[2022]
In a study involving 10 participants with mild cystic fibrosis, both dynamic 19F and hyperpolarized 129Xe MRI effectively detected ventilation abnormalities, but they provided different insights into lung function.
The results showed that while both imaging techniques identified ventilation defects, they were not entirely congruent, indicating that using both methods together can give a more comprehensive view of lung ventilation status in cystic fibrosis patients.
Comparison of single breath hyperpolarized 129 Xe MRI with dynamic 19 F MRI in cystic fibrosis lung disease.McCallister, A., Chung, SH., Antonacci, M., et al.[2021]
Real-world studies indicate that while CFTR modulator therapies for cystic fibrosis are generally well-tolerated, there may be a higher frequency of adverse events (AEs) and discontinuation compared to clinical trials, particularly with lumacaftor/ivacaftor (LUM/IVA) which showed more respiratory-related AEs.
All four CFTR modulators were associated with potential mental health and neurocognitive AEs, highlighting the need for systematic monitoring and the important role of pharmacists in managing these therapies and their side effects.
Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review.Dagenais, RVE., Su, VCH., Quon, BS.[2022]

References

Combination therapy with cystic fibrosis transmembrane conductance regulator modulators augment the airway functional microanatomy. [2020]
Hyperpolarized 129Xe for investigation of mild cystic fibrosis lung disease in pediatric patients. [2022]
Use of hyperpolarized helium-3 MRI to assess response to ivacaftor treatment in patients with cystic fibrosis. [2019]
Comparison of single breath hyperpolarized 129 Xe MRI with dynamic 19 F MRI in cystic fibrosis lung disease. [2021]
Advances in Imaging Cystic Fibrosis Lung Disease. [2022]
Update on Clinical Outcomes of Highly Effective Modulator Therapy. [2023]
Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review. [2022]
Trials and tribulations of highly effective modulator therapies in cystic fibrosis. [2023]
Ivacaftor restores CFTR-dependent sweat gland fluid secretion in cystic fibrosis subjects with S945L alleles. [2019]
Optical Nanosensors for in vivo Physiological Chloride Detection for Monitoring Cystic Fibrosis Treatment. [2021]
11.United Statespubmed.ncbi.nlm.nih.gov
Rectal potential difference and the functional expression of CFTR in the gastrointestinal epithelia in cystic fibrosis mouse models. [2019]