Rare DiseasesFAIRNCT07497581
A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases
An observational study of Rare Diseases, run by Markus A. Landolt at 1 site in Switzerland.
Trial summary
Rare diseases in children can affect not only the child's health but also the well-being and relationships within the entire family. Parents often experience stress, uncertainty, and emotional strain, which may in turn influence their child's mental health and quality of life. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Rare Diseases
- How many people
- 240 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Apr 2026to 1 Apr 2031
- How long will I take part?
- 12 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The study population consists of families (children/adolescents and their caregivers) affected by a pediatric rare disease. Participants are recruited through two primary sources: * Clinical Source: Patients and their families are identified and recruited through supervising physicians at the University Children's Hospital Zurich, Switzerland. * Community Source: Families are also reached via patient organizations dedicated to rare diseases, using their mailing lists and communication channels. The population includes children and adolescents across various functional statuses (primarily somatic vs. primarily cognitive limitations) to capture a broad spectrum of family adaptation processes. Recruitment is focused on German-speaking families (with English as an additional option for caregivers) who reside at home, ensuring that the collected data reflects daily family life and relationship dynamics in a natural setting.
Who may be able to join
- For children and adolescents:
- Diagnosed with an RD listed in Table 2.
- Age between 8 and 18 years.
- Sufficient knowledge of the German language.
- Declaration of informed consent must be signed by at least one legal guardian for all participants under 18; adolescents aged 14 - 17 additionally provide their own written consent.
- Lives at home (defined as sleeping inside of the home for more than four days per week, including weekends).
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- For parents:
- The child is affected by an RD listed in Table 2.
- The child's age is between 1 and 18 years.
- Sufficient knowledge of the German or English language.
- Availability of the signed declaration of informed consent.
- Only one child with a diagnosed RD.
- Up to two caregivers may participate per child. A stepparent may be included if they reside with the child, defined as spending at least three nights per week (including weekends) in the same household.
- Requirement ESM: Child lives at home (defined as sleeping inside of the home for more than four days per week, including weekends).
Who cannot join
- For children and adolescents:
- The child is affected by an RD other than listed in Table 2.
- Age under 8 or over 18 years.
- Not sufficient knowledge of the German language.
- Lack of informed consent from at least one legal guardian (required for all participants under 18); and, for adolescents aged 14 - 17, absence of adolescent's own written consent.
- Lives outside of the home (defined as sleeping outside of the home for more than three days per week, including weekends).
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- Cognitive impairment.
- For parents:
- The child is affected by an RD other than listed in Table 2.
- The child's age is under 1 or over 18 years.
- Not sufficient knowledge of the German nor English language.
- Declaration of informed consent not signed.
- More than one child with a diagnosed RD.
- Requirement ESM: Child lives outside of the home (defined as sleeping outside of the home for more than three days per week, including weekends).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases.
Rare diseases in children can affect not only the child's health but also the well-being and relationships within the entire family. Parents often experience stress, uncertainty, and emotional strain, which may in turn influence their child's mental health and quality of life. However, little is known about how families adapt over time to living with a rare disease or how daily experiences and family interactions shape this process.
This study aims to better understand how children with rare diseases and their caregivers adjust psychologically and emotionally over time. It will examine how factors such as parental stress, uncertainty, coping strategies, and family communication are linked to the mental health and quality of life of both children and parents.
Read more
The study will include children and adolescents (ages 1-18) with a diagnosed rare disease and their caregivers. Participants will complete online questionnaires at four time points over one year. A subgroup of families will also take part in a two-week smartphone-based assessment, where parents report their daily experiences, such as stress, emotions, and worries, several times per day. Some children and adolescents will additionally participate in interviews to share their own perspectives.
The main outcomes of interest are the child's mental health and quality of life. The study will also assess parental well-being and family functioning to understand how these factors influence each other over time.
By combining long-term and daily data, this study will provide a detailed picture of how families cope with rare diseases in everyday life. The findings may help improve psychological support and guide the development of targeted interventions for families affected by rare pediatric conditions.
Read the detailed description
Rare diseases (RDs) are chronic conditions that often begin in childhood and can have lifelong consequences for affected individuals and their families. In addition to physical health challenges, families frequently face significant psychological and social burdens, including stress, uncertainty about the future, and disruptions in daily life. While prior research has mainly focused on medical aspects of rare diseases, less is known about how families adapt over time and how interactions between children and their caregivers influence psychological outcomes.
This study is based on a theoretical model of family adaptation that integrates individual, relational, and contextual factors. In particular, it focuses on cognitive and emotional processes such as intolerance of uncertainty, illness perceptions, and coping strategies, as well as family-level processes including communication, parenting, and shared experiences of illness ("we-disease"). The study adopts a systemic perspective, recognizing that the well-being of children and caregivers is interdependent and evolves over time.
The project uses a longitudinal design with four assessment waves over a 12-month period, complemented by annual follow-ups. This design allows for the investigation of both stability and change in psychological adjustment. Data will be collected using standardized, validated questionnaires assessing mental health, health-related quality of life, stress, and family functioning. To better capture the child's perspective, a subset of children and adolescents will participate in structured interviews at each time point.
In addition to the longitudinal component, a subgroup of families will participate in an Ecological Sampling Method (ESM) phase. During this two-week period, caregivers will report multiple times per day on their current emotional state, stress levels, worries, perceived uncertainty, and coping responses using a smartphone application. This intensive data collection approach enables the examination of short-term, real-life dynamics and within-person fluctuations that cannot be captured through traditional survey methods.
The study will apply advanced statistical methods to analyze both longitudinal and intensive repeated-measures data. Actor-Partner Interdependence Models (APIM) and related approaches will be used to examine reciprocal relationships between child and caregiver outcomes over time, while multilevel modeling will be used to analyze daily processes captured in the ESM phase. By integrating these approaches, the study aims to identify both long-term adaptation patterns and short-term mechanisms that contribute to psychological adjustment.
The overall goal of the project is to generate a comprehensive understanding of how families adapt to pediatric rare diseases, including identifying risk and protective factors at the individual and family level. The findings are expected to inform the development of targeted psychosocial interventions, improve clinical support for affected families, and contribute to a more holistic approach to rare disease care that addresses both medical and psychosocial needs.
- Conditions
- Rare Diseases
- Keywords
- rare diseases, family adaptation, family functioning, psychological adjustment, psychosocial adjustment, quality of life, longitudinal study, caregiver experience, ecological momentary assessment, children and adolescents
- Medical subject headings
- Rare Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Child Mental Health and Health-Related Quality of Life
The primary endpoints of this study are the mental health and health-related quality of life (HRQoL) of the children and adolescents affected by an RD. Mental health includes internalizing and externalizing symptoms, as well as general psychological well-being. HRQoL encompasses subjective evaluations of physical, emotional, and social functioning, as well as the perceived impact of health conditions on daily life and overall well-being
Measured: Baseline, 3 months, 6 months, and 12 months
Secondary outcomes (1)
Parental and family-level factors
These include parental psychological well-being (e.g., depression, anxiety, stress, HRQoL), intolerance of uncertainty, worrying, communication patterns, daily coping, illness appraisal, parenting, and family functioning - assessed through longitudinal and ESM data.
Measured: Baseline, 3 months, 6 months, 12 months, 24 months, 36 months, and 48 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Mar 2026
- Study start1 Apr 2026 (estimated)
- Primary completion1 Apr 2031 (estimated)
- Study completion1 Apr 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 240 participants (estimated)
- Target duration
- 12 Months
Sponsor and investigators
- Lead sponsor
- Markus A. Landolt
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Markus A. Landolt, University Children's Hospital, Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07497581
- Sponsor's protocol ID
- BASEC NR: 2025-02379
- Other IDs
- 2025-02379, 2025
- Acronym
- FAIR
- Status last verified
- Mar 2026
- First submitted
- 23 Mar 2026
- Last updated
- 27 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Not decided yet
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases.
- ClinicalTrials.gov ID
- NCT07497581
- Acronym / sponsor ID
- FAIR / BASEC NR: 2025-02379
- Conditions
- Rare Diseases
- Keywords
- rare diseases, family adaptation, family functioning, psychological adjustment, psychosocial adjustment, quality of life, longitudinal study, caregiver experience
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 240 participants (estimated)
- Lead sponsor
- Markus A. LandoltUniversity, hospital or other
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 1 Apr 2031 (estimated)
- Study completion
- 1 Apr 2031 (estimated)
- First posted
- 27 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Rare diseases in children can affect not only the child's health but also the well-being and relationships within the entire family. Parents often experience stress, uncertainty, and emotional strain, which may in turn influence their child's mental health and quality of life. However, little is known about how families adapt over time to living with a rare disease or how daily experiences and family interactions shape this process.
This study aims to better understand how children with rare diseases and their caregivers adjust psychologically and emotionally over time. It will examine how factors such as parental stress, uncertainty, coping strategies, and family communication are linked to the mental health and quality of life of both children and parents.
The study will include children and adolescents (ages 1-18) with a diagnosed rare disease and their caregivers. Participants will complete online questionnaires at four time points over one year. A subgroup of families will also take part in a two-week smartphone-based assessment, where parents report their daily experiences, such as stress, emotions, and worries, several times per day. Some children and adolescents will additionally participate in interviews to share their own perspectives.
The main outcomes of interest are the child's mental health and quality of life. The study will also assess parental well-being and family functioning to understand how these factors influence each other over time.
By combining long-term and daily data, this study will provide a detailed picture of how families cope with rare diseases in everyday life. The findings may help improve psychological support and guide the development of targeted interventions for families affected by rare pediatric conditions.
Detailed description
Rare diseases (RDs) are chronic conditions that often begin in childhood and can have lifelong consequences for affected individuals and their families. In addition to physical health challenges, families frequently face significant psychological and social burdens, including stress, uncertainty about the future, and disruptions in daily life. While prior research has mainly focused on medical aspects of rare diseases, less is known about how families adapt over time and how interactions between children and their caregivers influence psychological outcomes.
This study is based on a theoretical model of family adaptation that integrates individual, relational, and contextual factors. In particular, it focuses on cognitive and emotional processes such as intolerance of uncertainty, illness perceptions, and coping strategies, as well as family-level processes including communication, parenting, and shared experiences of illness ("we-disease"). The study adopts a systemic perspective, recognizing that the well-being of children and caregivers is interdependent and evolves over time.
The project uses a longitudinal design with four assessment waves over a 12-month period, complemented by annual follow-ups. This design allows for the investigation of both stability and change in psychological adjustment. Data will be collected using standardized, validated questionnaires assessing mental health, health-related quality of life, stress, and family functioning. To better capture the child's perspective, a subset of children and adolescents will participate in structured interviews at each time point.
In addition to the longitudinal component, a subgroup of families will participate in an Ecological Sampling Method (ESM) phase. During this two-week period, caregivers will report multiple times per day on their current emotional state, stress levels, worries, perceived uncertainty, and coping responses using a smartphone application. This intensive data collection approach enables the examination of short-term, real-life dynamics and within-person fluctuations that cannot be captured through traditional survey methods.
The study will apply advanced statistical methods to analyze both longitudinal and intensive repeated-measures data. Actor-Partner Interdependence Models (APIM) and related approaches will be used to examine reciprocal relationships between child and caregiver outcomes over time, while multilevel modeling will be used to analyze daily processes captured in the ESM phase. By integrating these approaches, the study aims to identify both long-term adaptation patterns and short-term mechanisms that contribute to psychological adjustment.
The overall goal of the project is to generate a comprehensive understanding of how families adapt to pediatric rare diseases, including identifying risk and protective factors at the individual and family level. The findings are expected to inform the development of targeted psychosocial interventions, improve clinical support for affected families, and contribute to a more holistic approach to rare disease care that addresses both medical and psychosocial needs.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 12 Months
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The study population consists of families (children/adolescents and their caregivers) affected by a pediatric rare disease. Participants are recruited through two primary sources: * Clinical Source: Patients and their families are identified and recruited through supervising physicians at the University Children's Hospital Zurich, Switzerland. * Community Source: Families are also reached via patient organizations dedicated to rare diseases, using their mailing lists and communication channels. The population includes children and adolescents across various functional statuses (primarily somatic vs. primarily cognitive limitations) to capture a broad spectrum of family adaptation processes. Recruitment is focused on German-speaking families (with English as an additional option for caregivers) who reside at home, ensuring that the collected data reflects daily family life and relationship dynamics in a natural setting.
Key inclusion criteria (14 listed)
- Diagnosed with an RD listed in Table 2.
- Age between 8 and 18 years.
- Sufficient knowledge of the German language.
- Declaration of informed consent must be signed by at least one legal guardian for all participants under 18; adolescents aged 14 - 17 additionally provide their own written consent.
- Lives at home (defined as sleeping inside of the home for more than four days per week, including weekends).
Key exclusion criteria (14 listed)
- The child is affected by an RD other than listed in Table 2.
- Age under 8 or over 18 years.
- Not sufficient knowledge of the German language.
- Lack of informed consent from at least one legal guardian (required for all participants under 18); and, for adolescents aged 14 - 17, absence of adolescent's own written consent.
- Lives outside of the home (defined as sleeping outside of the home for more than three days per week, including weekends).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Child Mental Health and Health-Related Quality of Life
Time frame: Baseline, 3 months, 6 months, and 12 months
The primary endpoints of this study are the mental health and health-related quality of life (HRQoL) of the children and adolescents affected by an RD. Mental health includes internalizing and externalizing symptoms, as well as general psychological well-being. HRQoL encompasses subjective evaluations of physical, emotional, and social functioning, as well as the perceived impact of health conditions on daily life and overall well-being
1 secondary outcome
Parental and family-level factors
Time frame: Baseline, 3 months, 6 months, 12 months, 24 months, 36 months, and 48 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2026.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. Not decided yet
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases, run by Markus A. Landolt at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 27 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Prof. Dr. phil. Markus A. Landolt (+41 44 249 63 88, markus.landolt@kispi.uzh.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Child Mental Health and Health-Related Quality of Life (time frame: Baseline, 3 months, 6 months, and 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Mar 2026.