GROWing Up With Rare GENEtic Syndromes

Sponsor
dr. Laura C. G. de Graaff-Herder
Study ID
NCT04463316
Status
Recruiting
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Conditions

  • 17p- Deletiesyndrome
  • 1q25-32 Deletie
  • 22q11 Deletion Syndrome
  • 46, XY DSD
  • Albright Hereditaire Osteodystrofie
  • Allan-Herndon-Dudley Syndrome
  • Bardet Biedl Syndrome
  • CHARGE Syndrome
  • Congenital Adrenal Hyperplasia
  • Congenital Hypopituitarism
  • Cornelia de Lange Syndrome
  • Disorders of Sex Development
  • Jacobsen Syndrome / 11 q Syndrome
  • Kallmann Syndrome
  • Klinefelter (XXY-)Syndrome
  • Myrhe Syndrome
  • Neurofibromatosis
  • Noonan Syndrome
  • Ohdo Syndrome
  • POLR3A Mutatie
  • PWS-like Syndrome
  • Prader-Willi Syndrome
  • Rare Bone Disorders
  • Rett Syndrome
  • Saethre-Chotzen Syndrome
  • Silver Russel Syndrome
  • Tuberous Sclerosis
  • Turner Syndrome
  • VCF Syndrome
  • Williams-Beuren Syndrome
  • XXXX Syndrome (Tetra-X Syndrome)
  • XXXXY Syndrome
  • XXYY Syndrome

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • Retrospective file studies — DIAGNOSTIC_TEST
    No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.

Study Details

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.

Key Dates

Start date
Oct 1, 2018
Status verified
Sep 2023
Primary completion
Jan 1, 2030
Completion
Jan 1, 2030

Study Design

Enrollment
600 participants (estimated)

Primary Outcome Measure

Presence of physical health problems [ Time Frame: 1 year ]

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