A Study of Females With CF Throughout Pregnancy and Post-partum, and Follow up of Their Offspring (MATRIARCH_CF)

An Observational Study to Evaluate the Impact of Pregnancy and Parenthood in Females With Cystic Fibrosis and Their Offspring in the CFTR Modulator Era.

In this study, investigators aim to study in detail the physical (including nutritional and pulmonary) and mental health of females with cystic fibrosis (CF) planning a pregnancy, during pregnancy, and in the early parenthood period.

Additionally the health of offspring in infancy and early life will be studied to understand if further screening investigations or clinical care models should be part of clinical guidelines

Study Overview

• Status: Recruiting
• Conditions: Pregnancy; Cystic Fibrosis (CF); Infant, Newborn; Exposure During Pregnancy

Detailed Description

Improvements in treatments for people with CF have meant that more are becoming pregnant. CFTR modulators (CFTRm) are one of these treatments. They work by tackling the underlying cause of CF. These changes have created a need and an opportunity for research into the health and experiences of people with CF and their children in the CFTRm era.

The study is called 'MATRIARCH_CF' and includes 3 related sub-studies:

'Mama' is enrolling participants aged 16 years or older with CF under the care of the Royal Brompton Hospital (RBH) adult CF Unit who are planning a pregnancy or pregnant. The aim is to describe the impact of pregnancy and the first 12-24 months of parenthood in females with CF on their physical and psychological health. Investigations in eight visits include blood tests, lung function, imaging, and interviews.

'Mini' is enrolling biological offspring of people with CF (mothers and fathers) cared for by the RBH Adult CF Service, from birth to age two. The aim is to collect information that will allow for assessment of health outcomes in offspring of parents with CF in the short term. There will be up to four visits over two years with investigations including blood tests, sweat tests, and brain ultrasound.

'Midi' explores the same question as 'Mini' but in the longer term for those aged three-to-six. There will be up to two visits, and they include lung function testing and a lung MRI.

This study is described as 'observational' as investigators will not provide or change any treatment. Participant's health will be monitored with a range of investigations, many of which are optional. Knowledge gained from this study will be used to create guidelines to help families with CF and their medical teams make decisions around pregnancy and their offspring.

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Amy Downes; Phone Number: 84935 020 7352 8121; Email: a.downes@imperial.ac.uk
• Study Contact Backup: Name: Idan Bokobza; Email: i.bokobza@imperial.ac.uk

Study Locations

• United Kingdom
  • London, United Kingdom
    • Recruiting
    • Royal Brompton Hospital
    • Contact: Amy Downes; Phone Number: +44 (0) 207 351 8997; Email: a.downes@imperial.ac.uk
    • Contact: Idan Bokobza; Phone Number: +44 (0) 207 351 8997; Email: i.bokobza@imperial.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

1. Females aged 16 years or older with CF under the care of the Royal Brompton Hospital adult CF Unit who are planning a pregnancy or pregnant.
2. Biological offspring of people with CF (both mothers and fathers) cared for by the Royal Brompton Hospital Adult CF Service, from birth to aged six years.

Description

Inclusion Criteria:

'Mama' sub-study:

• Written informed consent obtained from participant.
• Under the care of Royal Brompton Hospital CF Reproductive and Maternal Health Service
• Age 16 years or above at time of recruitment
• Confirmed diagnosis of CF
• Planning a pregnancy or pregnant at time of recruitment.
• Ability to adhere to the required visits and investigations.

'Mini' sub-study:

• Written informed consent obtained from participant's legal guardian.
• Infants who have one biological parent with a confirmed diagnosis of CF under care of Royal Brompton Hospital Adult CF Service
• Less than 12 months of age at first visit.
• Ability to adhere to the required visits and investigations.

'Midi' sub-study:

• Written informed consent obtained from participant's legal guardian.
• Children who have one biological parent with a confirmed diagnosis of CF who is under the care of Royal Brompton Hospital Adult CF Service.
• Age three to six years at time of visit
• Ability to adhere to the required visits and investigations.

Exclusion Criteria:

'Mama' sub-study:

• Any significant health condition which would cause inability to comply with protocol based on investigator discretion.
• History of lung transplantation

'Mini' sub-study:

• Legal guardians' inability to provide consent to participate in the study.
• Mother of infant has significant comorbidities unrelated to CF which could affect infant outcomes based on investigator discretion.

'Midi' sub-study:

• Legal guardians' inability to provide consent to participate in the study.
• A significant health condition which is known to affect lung function or imaging based on investigator discretion

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Mama; Females with Cystic Fibrosis who are pregnant or planning a pregnancy
Mini; Children aged 0-24 months with one biological parent who has a diagnosis of cystic fibrosis
Midi; Children aged 3-6 years with one biological parent who has a diagnosis of cystic fibrosis

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in FEV1	Change in FEV1 percent predicted (ppFEV1) from pre-conception/baseline to end of pregnancy, and at 12- and 24-months post-partum.	9 months
Incidence of CF-related pulmonary complications during pregnancy.		9 months
Incidence of premature delivery	Defined as birth <37 weeks gestation.	3 years
Frequency of liver dysfunction in infants	Defined as ALT/AST/GGT/bilirubin above upper limit of normal using laboratory normal ranges. This is prospectively obtained in the 'Mini' sub-study, and retrospectively reviewed from medical records in the 'Midi' sub-study.	2 years
Incidence of congential abnormalities	Based on medical history and examination	3 years
Frequency of CF diagnoses in infants despite negative newborn screen testing	The number of participants with normal IRT subsequently diagnosed with CF (based on a combination of CF genetic tests, sweat chloride, and faecal elastase where appropriate).	3 years
Frequency of abnormal lung clearance index results in young children	A lung clearance index (LCI) measurement above the normal levels as defined by investigating laboratory values (Midi only)	3 years

Collaborators and Investigators

• Sponsor: Royal Brompton & Harefield NHS Foundation Trust
• Collaborators: King's College London; Imperial College London; Cystic Fibrosis Trust
• Investigators: Principal Investigator: Imogen Felton, Royal Brompton Hospital and NHLI Imperial College London; Principal Investigator: Jane Davies, Royal Brompton Hospital and NHLI Imperial College London

Study record dates

Study Major Dates

• Study Start (Actual): June 12, 2025
• Primary Completion (Estimated): April 1, 2028
• Study Completion (Estimated): May 1, 2028

Study Registration Dates

• First Submitted: January 16, 2025
• First Submitted That Met QC Criteria: January 22, 2025
• First Posted (Actual): January 28, 2025

Study Record Updates

• Last Update Posted (Estimated): October 1, 2025
• Last Update Submitted That Met QC Criteria: September 26, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Pregnancy; CFTR modulators; Pregnancy/obstetric health in women with cystic fibrosis
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Respiratory Tract Diseases; Digestive System Diseases; Lung Diseases; Infant, Newborn, Diseases; Pancreatic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cystic Fibrosis
• Other Study ID Numbers: 352398

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No