Clinical trial NCT04463316: GROWing Up With Rare GENEtic Syndromes
Official title: GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Prader-Willi Syndrome
PWS-like Syndrome
Silver Russel Syndrome
Congenital Hypopituitarism
Klinefelter (XXY-)Syndrome
Congenital Adrenal Hyperplasia
XXXXY Syndrome
XXYY Syndrome
XXXX Syndrome (Tetra-X Syndrome)
Disorders of Sex Development
Turner Syndrome
46, XY DSD
Tuberous Sclerosis
Neurofibromatosis
Albright Hereditaire Osteodystrofie
Cornelia de Lange Syndrome
Saethre-Chotzen Syndrome
17p- Deletiesyndrome
VCF Syndrome
POLR3A Mutatie
Ohdo Syndrome
Jacobsen Syndrome / 11 q Syndrome
Myrhe Syndrome
CHARGE Syndrome
1q25-32 Deletie
Bardet Biedl Syndrome
Rett Syndrome
22q11 Deletion Syndrome
Allan-Herndon-Dudley Syndrome
Kallmann Syndrome
Rare Bone Disorders
Noonan Syndrome
Williams-Beuren Syndrome
Lead sponsor: Erasmus Medical Center
Sponsor class: OTHER
First posted: 2020-07-09
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with complex genetic syndromes

Brief summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.

Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.

Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.

The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:

1. comorbidities
2. medical and their impact on quality of life
3. medication use
4. the need for adaption of medication dose according to each syndrome

Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.


Eligibility criteria: Inclusion Criteria:

* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.

Exclusion Criteria:

* None

Primary outcomes:
measure: Presence of physical health problems
timeFrame: 1 year
measure: Laboratory values
timeFrame: 1 year
measure: Physical and psychological complaints
timeFrame: 1 year
measure: Medication use
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Rotterdam
country: Netherlands
facility: Erasmus Medical Center
state: Zuid-Holland
Study officials:
References: