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GROWing Up With Rare GENEtic Syndromes (GROW UR GENES)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04463316
Recruitment Status : Recruiting
First Posted : July 9, 2020
Last Update Posted : July 9, 2020
Information provided by (Responsible Party):
dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center

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.

Condition or disease Intervention/treatment
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 Diagnostic Test: Retrospective file studies

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Actual Study Start Date : October 1, 2018
Estimated Primary Completion Date : January 1, 2030
Estimated Study Completion Date : January 1, 2030

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

Primary Outcome Measures :
  1. Presence of physical health problems [ Time Frame: 1 year ]
    For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.

  2. Laboratory values [ Time Frame: 1 year ]
    For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc

  3. Physical and psychological complaints [ Time Frame: 1 year ]
    For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.

  4. Medication use [ Time Frame: 1 year ]
    Use of all medication

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with complex genetic syndromes

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04463316

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Erasmus Medical Center Recruiting
Rotterdam, Zuid-Holland, Netherlands, 3015 GD
Contact: Laura CG de Graaff, MD, PhD    +31618843010   
Sub-Investigator: Sabine E Hannema         
Sponsors and Collaborators
dr. Laura C. G. de Graaff-Herder
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Responsible Party: dr. Laura C. G. de Graaff-Herder, Principal investigator, Erasmus Medical Center Identifier: NCT04463316    
Other Study ID Numbers: MEC-2018-1389
First Posted: July 9, 2020    Key Record Dates
Last Update Posted: July 9, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Data available upon reasonable request.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Tuberous Sclerosis
Noonan Syndrome
22q11 Deletion Syndrome
Prader-Willi Syndrome
Rett Syndrome
Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Williams Syndrome
De Lange Syndrome
CHARGE Syndrome
Turner Syndrome
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Klinefelter Syndrome
Kallmann Syndrome
Disorders of Sex Development
Jacobsen Distal 11q Deletion Syndrome
Pathologic Processes
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type