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| Name | Class |
|---|---|
| Cystic Fibrosis Trust | OTHER |
| King's College London | OTHER |
| Imperial College London | OTHER |
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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
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| 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 |
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Inclusion Criteria:
'Mama' sub-study:
'Mini' sub-study:
'Midi' sub-study:
Exclusion Criteria:
'Mama' sub-study:
'Mini' sub-study:
'Midi' sub-study:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amy Downes | Contact | 020 7352 8121 | 84935 | a.downes@imperial.ac.uk |
| Idan Bokobza | Contact | i.bokobza@imperial.ac.uk |
| Name | Affiliation | Role |
|---|---|---|
| Imogen Felton | Royal Brompton Hospital and NHLI Imperial College London | Principal Investigator |
| Jane Davies | Royal Brompton Hospital and NHLI Imperial College London | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Royal Brompton Hospital | Recruiting | London | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 42379640 | Derived | Downes A, Bokobza I, Weitnauer L, Scott R, Dobra R, Short C, Semple T, Beaumont O, Williamson C, Davies JC, Felton I. Maternal, Infant, Reproductive and Child Health in Cystic Fibrosis (MATRIARCH_CF): a prospective, observational study to evaluate pregnancy and parenthood in females with cystic fibrosis and health of the offspring in the CFTR-modulator era. BMJ Open Respir Res. 2026 Jun 30;13(1):e004270. doi: 10.1136/bmjresp-2026-004270. |
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| ID | Term |
|---|---|
| D003550 | Cystic Fibrosis |
| ID | Term |
|---|---|
| D010182 | Pancreatic Diseases |
| D004066 | Digestive System Diseases |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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Sputum, serum and urine
| D030342 |
| Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007232 | Infant, Newborn, Diseases |