Personalized Theratyping Trial

Purpose

The purpose of this study is to explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs.

Condition

  • Cystic Fibrosis

Eligibility

Eligible Ages
Over 6 Years
Eligible Genders
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • Diagnosis of CF - Age ≥6 y.o. - CFTR mutation that may respond to approved correctors/potentiators in the opinion of the study investigators - Informed Consent/Assent - Stable CF pulmonary regimen

Exclusion Criteria

  • Exacerbation requiring antibiotic or steroids for >28 days before trial entry - Ongoing participation in a CFTR modulator study - Active smoking in the past 6 months - History of solid organ transplant - Any condition which precludes the use of CFTR modulators: e.g. advanced cirrhosis, End-stage Renal Disease (ESRD) - Any condition that precludes the patient from participation in the opinion of the investigator - Any meds that have significant drug-drug interactions or any other off label use of CFTR modulators

Study Design

Phase
Early Phase 1
Study Type
Interventional
Allocation
Non-Randomized
Intervention Model
Parallel Assignment
Primary Purpose
Treatment
Masking
None (Open Label)

Arm Groups

ArmDescriptionAssigned Intervention
Experimental
Symdeko 		Patients who have a mutation that responds to a CFTR corrector from in vitro study will be given Symdeko, depending on the in vitro response pattern
  • Drug: Symdeko
    explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs.
    Other names:
    • Orkambi
    • Ivacaftor
Experimental
Ivacaftor 		Patients who have mutation response to a potentiator of CFTR function will be given Ivacaftor monotherapy.. Patients with a mutation equivalent to wild type will be given Ivacaftor.
  • Drug: Symdeko
    explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs.
    Other names:
    • Orkambi
    • Ivacaftor
Experimental
Orkambi 		Patients who have a mutation that responds to a CFTR corrector from in vitro study will be given Orkambi, depending on the in vitro response pattern
  • Drug: Symdeko
    explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs.
    Other names:
    • Orkambi
    • Ivacaftor

Recruiting Locations

University of Alabama at Birmingham
Birmingham, Alabama 35233
Contact:
Heather Hathorne, PhD
205-638-9568
hhathorne@peds.uab.edu

More Details

Status
Recruiting
Sponsor
University of Alabama at Birmingham

Study Contact

Heather Hathorne, PhD
205-638-9568
hhathorne@peds.uab.edu

Detailed Description

The purpose of this study is to explore the use of off-label CFTR modulators that may affect CFTR function in patients with CFTR mutations that are not currently approved for these drugs. Symdeko (Tezacaftor/Ivacaftor), Orkambi (Ivacaftor and Lumacaftor), correctors of CFTR misfolding and Kalydeco (Ivacaftor), a potentiator of abnormal CFTR gating, will be explored as a treatment for patients with other CF mutations than those currently approved. Patients who have a mutation that responds to a CFTR corrector from in vitro study will be given Symdeko, or Orkambi, depending on the in vitro response pattern. Patients who have mutation response to a potentiator of CFTR function will be given Ivacaftor monotherapy. Patients with a mutation equivalent to wild type will be given Ivacaftor. If the patient is 6-12 years old, we will only study Orkambi or ivacaftor as symdeko is not yet FDA approved in this patient population.