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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04463316
Other study ID # MEC-2018-1389
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


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
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