Search Results
within category "Congenital & Chromosomal Abnormalities"
Here are the studies that match your search criteria. If you are interested in participating, please reach out to the contact listed for the study. If no contact is listed, contact us and we'll help you find the right person.
CHaractErizing CFTR Modulated Changes in Sweat Chloride and Their Association With Clinical Outcomes (CHEC-SC)
This is a multicenter, cross-sectional, cohort study which will collect contemporary sweat
chloride (SC) values from approximately 5000 Cystic Fibrosis (CF) patients prescribed and
currently receiving commercially approved Cystic Fibrosis transmembrane conductance regulator
(CFTR) modulator therapies.
Hara Levy, MD
All
4 Months and over
NA
This study is NOT accepting healthy volunteers
NCT03350828
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Inclusion Criteria:
1. Written informed consent (and assent when applicable) obtained from subject or
subject's legal representative
2. Enrolled in the CFFPR
3. Male or female ≥ 4 months of age on day of study visit
4. Diagnosis of CF.
5. Current treatment with a prescribed commercially approved CFTR modulator for at least
90 days prior to enrollment
6. Able to perform the testing and procedures required for this study, as judged by the
investigator
Additional Inclusion Criteria for CHEC-PKPD Sub-Study:
1. Male or female ≥ 6 years of age on day of study visit.
2. Current treatment with elexacaftor/tezacaftor/ivacaftor for at least 90 days prior to
enrollment.
3. Last dose of elexacaftor/tezacaftor/ivacaftor taken at least 24hours and last dose of
ivacaftor taken at least 12 hours prior to trough blood draw on day of visit.
Exclusion Criteria:
1. Presence of a condition or abnormality that, in the opinion of the Investigator, would
compromise the safety of the patient or the quality of the data
2. Currently enrolled in an investigational trial (including open-label follow-on studies
and Early Access Programs (EAP) of an agent expected to have an impact on sweat
chloride (refer to current list provided on study website)
CysticFibrosis, Respiration Disorders [C08], Other
Study to Evaluate Biological & Clinical Effects of Significantly Corrected CFTR Function in Infants & Young Children (BEGIN)
This is a two-part, multi-center, prospective longitudinal, exploratory study of highly
effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their
impact on children with cystic fibrosis (CF).
Christina Barreda
All
up to 5 Years old
NA
This study is NOT accepting healthy volunteers
NCT04509050
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Inclusion Criteria:
• Part A:
• Less than 5 years of age at the first study visit.
• Documentation of a CF diagnosis.
Part B:
• Participated in Part A OR less than 6 years of age at the first study visit.
• Documentation of a CF diagnosis.
• CFTR mutations consistent with FDA labeled indication of highly effective modulator
therapy (ivacaftor or elexacaftor/tezacaftor/ivacaftor).
• Physician intent to prescribe ivacaftor or elexacaftor/tezacaftor/ivacaftor.
Exclusion Criteria:
• Part A and Part B:
Use of an investigational drug within 28 days prior to and including the first study visit.
Use of ivacaftor or elexacaftor/tezacaftor/ivacaftor within the 180 days prior to and
including the first study visit.
Use of chronic oral corticosteroids within the 28 days prior to and including the first
study visit.
CysticFibrosis, Cysticfibrosis, Other, Children's & Adolescent Health
Prospective Study of Pregnancy in Women With CysticFibrosis (MAYFLOWERS)
In this study, the investigators aim to evaluate changes in lung function in women with
cystic fibrosis (CF) during pregnancy and for 2 years after pregnancy based on exposure to
highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators.
Erin Lowery
Female
16 Years and over
NA
This study is NOT accepting healthy volunteers
NCT04828382
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Inclusion Criteria:
• Pregnant, intending to continue pregnancy, enrolled in the Cystic Fibrosis Foundation
Patient Registry (CFFPR)
Exclusion Criteria:
• None
Pregnancy Related, CysticFibrosis, Cysticfibrosis, Other
A Study Evaluating the Long-term Safety and Efficacy of VX-121 Combination Therapy
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of
VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in participants with cystic fibrosis.
Andrew Braun
All
12 Years and over
Phase 3
This study is NOT accepting healthy volunteers
NCT05444257
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Key
Inclusion Criteria:
• Completed study drug treatment in a parent study VX20-121-102 (NCT05033080) and
VX20-121-103 (NCT05076149); or had study drug interruption(s) in a parent study but
did not permanently discontinue study drug, and completed study visits up to the last
scheduled visit of the Treatment Period in the parent study
Key
Exclusion Criteria:
• History of drug intolerance in a parent study
• Pregnant or breast-feeding females
Other protocol defined Inclusion/Exclusion criteria may apply.
Evaluation of VX-121/Tezacaftor/Deutivacaftor in CysticFibrosis (CF) Participants 1 Through 11 Years of Age
The purpose of this study is to evaluate the pharmacokinetics, safety, tolerability and
efficacy of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants with at
least 1 triple combination responsive (TCR) mutation in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene.
Hara Levy, MD
All
1 Year to 11 Years old
Phase 3
This study is NOT accepting healthy volunteers
NCT05422222
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Key
Inclusion Criteria:
• Participants with stable CF and at least 1 TCR mutation (including F508del) in the
CFTR gene
Key
Exclusion Criteria:
• History of solid organ, hematological transplantation, or cancer
• Hepatic cirrhosis with portal hypertension, moderate hepatic impairment (Child Pugh
Score 7 to 9), or severe hepatic impairment (Child Pugh Score 10 to 15)
• Lung infection with organisms associated with a more rapid decline in pulmonary status
Other protocol defined Inclusion/Exclusion criteria may apply.
Standardizing Treatments for Pulmonary Exacerbations - Aminoglycoside Study (STOP360AG)
The purpose of this study is to look at pulmonary exacerbations in people with cystic
fibrosis (CF) that need to be treated with antibiotics given through a tube inserted into a
vein (intravenous or IV). A pulmonary exacerbation is a worsening of respiratory symptoms in
people with CF that needs medical intervention. Both doctors and CF patients are trying to
understand the best way to treat pulmonary exacerbations. This study is trying to answer the
following questions about treating a pulmonary exacerbation:
- Do participants have the same improvement in lung function and symptoms if they are
treated with one type of antibiotic (called beta-lactams or β-lactams) versus taking two
different types of antibiotics (tobramycin and β-lactams)?
- Is taking one type of antibiotic just as good as taking two types?
Andrew Braun
All
6 Years and over
Phase 4
This study is NOT accepting healthy volunteers
NCT05548283
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Inclusion Criteria:
• All genders ≥ 6 years of age at Visit 1
• Documentation of a CF diagnosis
• Clinician intent to treat index CF PEx with a planned 14-day course of IV
antimicrobials
• At least one documented Pa positive culture within two years prior to Visit 1
Exclusion Criteria:
• Participant is not pregnant
• No known renal impairment or history of solid organ transplantation
• No IV antimicrobial treatment, ICU admission, pneumothorax, or hemoptysis within 6
weeks prior to Visit 1
• No use of investigational therapies, new CF transmembrane conductance regulator (CFTR)
modulators, or treatment for Nontuberculous mycobacteria (NTM) within 4 weeks prior to
Visit 1
• No history of hypersensitivity, vestibular, or auditory toxicity with aminoglycosides
• No more than one day of IV aminoglycosides administered for the current PEx treatment
prior to Visit 1
CysticFibrosis, CysticFibrosis Pulmonary Exacerbation, Other
A Phase 1/2 Study of VX-522 in Participants With CysticFibrosis (CF)
The purpose of this study is to evaluate the safety, and tolerability and efficacy of VX-522
in participants 18 years of age and older with cystic fibrosis and a cystic fibrosis
transmembrane conductance regulator (CFTR) genotype not responsive to CFTR modulator therapy.
Andrew Braun
All
18 Years to 65 Years old
Phase 1/Phase 2
This study is NOT accepting healthy volunteers
NCT05668741
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Key
Inclusion Criteria:
• Body mass index is less than (<) 30.0 kilograms per meter square (kg/m^2)
• A total body weight greater than (>) 50 kg
• Stable CF disease
• CFTR gene mutations on both alleles that are not responsive to CFTR modulator therapy
o Example mutations include but are not limited to, mutations that do not produce CFTR
protein (i.e., Class I): nonsense mutations (e.g., G542X, W1282X) and canonical splice
mutations (e.g., 621+1G->T)
• Forced expiratory volume in 1 second (FEV1) value for SAD: greater than or equal to
(≥)40 percent (%), MAD: ≥ 40% to less than or equal to (≤) 90%
Key
Exclusion Criteria:
• History of uncontrolled asthma within a year prior to screening
• History of solid organ or hematological transplantation
• Hepatic cirrhosis with portal hypertension, moderate hepatic impairment (Child Pugh
Score 7 to 9), or severe hepatic impairment (Child Pugh Score 10 to 15)
• Arterial oxygen saturation on room air less than (<) 94% at screening
Other protocol defined Inclusion/Exclusion criteria may apply.
Evaluation of Long-Term Safety and Efficacy of Vanzacaftor/Tezacaftor/Deutivacaftor in CysticFibrosis Participants 1 Year of Age and Older
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of
vanzacaftor/tezacaftor/deutivacaftor (VNZ/TEZ/D-IVA) in participants with cystic fibrosis
(CF).
Hara Levy, MD
All
1 Year and over
Phase 3
This study is NOT accepting healthy volunteers
NCT05844449
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Key
Inclusion Criteria:
• Participants who have completed study drug treatment in the parent study
(VX21-121-105; NCT Number: NCT05422222)
Key
Exclusion Criteria:
• Hepatic cirrhosis with portal hypertension, moderate hepatic impairment, or severe
hepatic impairment that might pose an additional risk in administering study drug
• History of solid organ, hematological transplantation, or cancer
• History of drug intolerance in the parent study
Other protocol defined Inclusion/Exclusion criteria may apply.
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