A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases

NCT07497581 | Not Yet Recruiting

• 2 other identifiers: BASEC NR: 2025-023792025-02379
• Study Type: observational
• Target: 240
• Locations: 1 country
• Sites: 1

Brief 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. 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.

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

Outcome Measures

Primary Outcomes (1)

• 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

  Baseline, 3 months, 6 months, and 12 months

Secondary Outcomes (1)

• Parental and family-level factors

  Baseline, 3 months, 6 months, 12 months, 24 months, 36 months, and 48 months

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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).
• 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).

You may not qualify if:

• 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).
• 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).

Sponsors & Collaborators

• Markus A. Landolt: lead

Study Sites (1)

University Children's Hospital Zurich

Zurich, 8008, Switzerland

Location

Related Links

• Related Info

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Prof. Dr. phil. Markus A. Landolt

CONTACT

+41 44 249 63 88; markus.landolt@kispi.uzh.ch

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 12 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Prof. Dr. phil.

Study Record Dates

• First Submitted: March 23, 2026
• First Posted: March 27, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): April 1, 2031
• Study Completion (Estimated): April 1, 2031
• Last Updated: March 27, 2026

Record last verified: 2026-03

Locations

CH (1)