GROWing Up With Rare GENEtic Syndromes

Prader-Willi Syndrome Clinical Trial

— GROW UR GENES  

Official title:

GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04463316
• Other study ID #: MEC-2018-1389
• Status: Recruiting
• Start date: October 1, 2018
• Est. completion date: January 1, 2030

Study information

• Verified date: September 2023
• Source: Erasmus Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: January 1, 2030
• Est. primary completion date: January 1, 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

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

Intervention

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

Locations

Country	Name	City	State
Netherlands	Erasmus Medical Center	Rotterdam	Zuid-Holland

Sponsors (1)

Lead Sponsor	Collaborator
dr. Laura C. G. de Graaff-Herder

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Presence of physical health problems	For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.	1 year
Primary	Laboratory values	For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc	1 year
Primary	Physical and psychological complaints	For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.	1 year
Primary	Medication use	Use of all medication	1 year