<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04463316</url>
  </required_header>
  <id_info>
    <org_study_id>MEC-2018-1389</org_study_id>
    <nct_id>NCT04463316</nct_id>
  </id_info>
  <brief_title>GROWing Up With Rare GENEtic Syndromes</brief_title>
  <acronym>GROW UR GENES</acronym>
  <official_title>GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>dr. Laura C. G. de Graaff-Herder</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Erasmus Medical Center</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition,&#xD;
      have combined medical problems affecting multiple organ systems, and intellectual disability&#xD;
      is often part of the syndrome. During childhood, patients with rare genetic syndromes receive&#xD;
      multidisciplinary and specialized medical care; they usually receive medical care from 3-4&#xD;
      medical specialists.&#xD;
&#xD;
      Increased life expectancy Although many genetic syndromes used to cause premature death,&#xD;
      improvement of medical care has improved life expectancy. More and more patients are now&#xD;
      reaching adult age, and the complexity of the syndrome persists into adulthood. However,&#xD;
      until recently, multidisciplinary care was not available for adults with rare genetic&#xD;
      syndromes. Ideally, active and well-coordinated health management is provided to prevent,&#xD;
      detect, and treat comorbidities that are part of the syndrome. However, after transition from&#xD;
      pediatric to adult medical care, patients and their parents often report fragmented poor&#xD;
      quality care instead of adequate and integrated health management. Therefore, pediatricians&#xD;
      express the urgent need for adequate, multidisciplinary adult follow up of their pediatric&#xD;
      patients with rare genetic syndromes.&#xD;
&#xD;
      Medical guidelines for adults not exist and the literature on health problems in these adults&#xD;
      is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e.&#xD;
      the fact that in the past patients with rare genetic syndromes often died before reaching&#xD;
      adult age), there is an urgent need for an overview of medical issues at adult age, for 'best&#xD;
      practice' and, if possible, for medical guidelines.&#xD;
&#xD;
      The aim of this study is to get an overview of medical needs of adults with rare genetic&#xD;
      syndromes, including:&#xD;
&#xD;
        1. comorbidities&#xD;
&#xD;
        2. medical and their impact on quality of life&#xD;
&#xD;
        3. medication use&#xD;
&#xD;
        4. the need for adaption of medication dose according to each syndrome&#xD;
&#xD;
      Methods and Results This is a retrospective file study. Analysis will be performed using SPSS&#xD;
      version 23 and R version 3.6.0.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">October 1, 2018</start_date>
  <completion_date type="Anticipated">January 1, 2030</completion_date>
  <primary_completion_date type="Anticipated">January 1, 2030</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Presence of physical health problems</measure>
    <time_frame>1 year</time_frame>
    <description>For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Laboratory values</measure>
    <time_frame>1 year</time_frame>
    <description>For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Physical and psychological complaints</measure>
    <time_frame>1 year</time_frame>
    <description>For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Medication use</measure>
    <time_frame>1 year</time_frame>
    <description>Use of all medication</description>
  </primary_outcome>
  <enrollment type="Anticipated">600</enrollment>
  <condition>Prader-Willi Syndrome</condition>
  <condition>PWS-like Syndrome</condition>
  <condition>Silver Russel Syndrome</condition>
  <condition>Congenital Hypopituitarism</condition>
  <condition>Klinefelter (XXY-)Syndrome</condition>
  <condition>Congenital Adrenal Hyperplasia</condition>
  <condition>XXXXY Syndrome</condition>
  <condition>XXYY Syndrome</condition>
  <condition>XXXX Syndrome (Tetra-X Syndrome)</condition>
  <condition>Disorders of Sex Development</condition>
  <condition>Turner Syndrome</condition>
  <condition>46, XY DSD</condition>
  <condition>Tuberous Sclerosis</condition>
  <condition>Neurofibromatosis</condition>
  <condition>Albright Hereditaire Osteodystrofie</condition>
  <condition>Cornelia de Lange Syndrome</condition>
  <condition>Saethre-Chotzen Syndrome</condition>
  <condition>17p- Deletiesyndrome</condition>
  <condition>VCF Syndrome</condition>
  <condition>POLR3A Mutatie</condition>
  <condition>Ohdo Syndrome</condition>
  <condition>Jacobsen Syndrome / 11 q Syndrome</condition>
  <condition>Myrhe Syndrome</condition>
  <condition>CHARGE Syndrome</condition>
  <condition>1q25-32 Deletie</condition>
  <condition>Bardet Biedl Syndrome</condition>
  <condition>Rett Syndrome</condition>
  <condition>22q11 Deletion Syndrome</condition>
  <condition>Allan-Herndon-Dudley Syndrome</condition>
  <condition>Kallmann Syndrome</condition>
  <condition>Rare Bone Disorders</condition>
  <condition>Noonan Syndrome</condition>
  <condition>Williams-Beuren Syndrome</condition>
  <intervention>
    <intervention_type>Diagnostic Test</intervention_type>
    <intervention_name>Retrospective file studies</intervention_name>
    <description>No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with complex genetic syndromes&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients with rare syndromes or rare congenital diseases visiting the&#xD;
             multidisciplinary outpatient clinic for patients with rare diseases at the department&#xD;
             of endocrinology, internal medicine, Erasmus Medical Center.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  None&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Erasmus Medical Center</name>
      <address>
        <city>Rotterdam</city>
        <state>Zuid-Holland</state>
        <zip>3015 GD</zip>
        <country>Netherlands</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Laura CG de Graaff, MD, PhD</last_name>
      <phone>+31618843010</phone>
      <email>l.degraaff@erasmusmc.nl</email>
    </contact>
    <investigator>
      <last_name>Sabine E Hannema</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>Netherlands</country>
  </location_countries>
  <verification_date>September 2023</verification_date>
  <study_first_submitted>July 2, 2020</study_first_submitted>
  <study_first_submitted_qc>July 3, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 9, 2020</study_first_posted>
  <last_update_submitted>September 4, 2023</last_update_submitted>
  <last_update_submitted_qc>September 4, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">September 6, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor-Investigator</responsible_party_type>
    <investigator_affiliation>Erasmus Medical Center</investigator_affiliation>
    <investigator_full_name>dr. Laura C. G. de Graaff-Herder</investigator_full_name>
    <investigator_title>Principal investigator</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Neurofibromatoses</mesh_term>
    <mesh_term>Tuberous Sclerosis</mesh_term>
    <mesh_term>Noonan Syndrome</mesh_term>
    <mesh_term>DiGeorge Syndrome</mesh_term>
    <mesh_term>22q11 Deletion Syndrome</mesh_term>
    <mesh_term>Acrocephalosyndactylia</mesh_term>
    <mesh_term>Craniosynostoses</mesh_term>
    <mesh_term>CHARGE Syndrome</mesh_term>
    <mesh_term>Prader-Willi Syndrome</mesh_term>
    <mesh_term>Rett Syndrome</mesh_term>
    <mesh_term>Hypopituitarism</mesh_term>
    <mesh_term>Bardet-Biedl Syndrome</mesh_term>
    <mesh_term>Laurence-Moon Syndrome</mesh_term>
    <mesh_term>Williams Syndrome</mesh_term>
    <mesh_term>De Lange Syndrome</mesh_term>
    <mesh_term>Turner Syndrome</mesh_term>
    <mesh_term>Adrenal Hyperplasia, Congenital</mesh_term>
    <mesh_term>Adrenogenital Syndrome</mesh_term>
    <mesh_term>Klinefelter Syndrome</mesh_term>
    <mesh_term>Kallmann Syndrome</mesh_term>
    <mesh_term>Disorders of Sex Development</mesh_term>
    <mesh_term>Jacobsen Distal 11q Deletion Syndrome</mesh_term>
    <mesh_term>Syndrome</mesh_term>
    <mesh_term>Hyperplasia</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
    <ipd_description>Data available upon reasonable request.</ipd_description>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04463316
org study id: MEC-2018-1389
nct id: NCT04463316
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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.
observational model: Cohort
time perspective: Retrospective
measure: Presence of physical health problems
time frame: 1 year
description: For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.
measure: Laboratory values
time frame: 1 year
description: For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc
measure: Physical and psychological complaints
time frame: 1 year
description: For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.
measure: Medication use
time frame: 1 year
description: Use of all medication
intervention type: Diagnostic Test
intervention name: Retrospective file studies
description: No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
facility: 
status: Recruiting
contact: 
investigator: 
country: Netherlands
responsible party type: Sponsor-Investigator
investigator affiliation: Erasmus Medical Center
investigator full name: dr. Laura C. G. de Graaff-Herder
investigator title: Principal investigator
mesh term: Neurofibromatoses
mesh term: Tuberous Sclerosis
mesh term: Noonan Syndrome
mesh term: DiGeorge Syndrome
mesh term: 22q11 Deletion Syndrome
mesh term: Acrocephalosyndactylia
mesh term: Craniosynostoses
mesh term: CHARGE Syndrome
mesh term: Prader-Willi Syndrome
mesh term: Rett Syndrome
mesh term: Hypopituitarism
mesh term: Bardet-Biedl Syndrome
mesh term: Laurence-Moon Syndrome
mesh term: Williams Syndrome
mesh term: De Lange Syndrome
mesh term: Turner Syndrome
mesh term: Adrenal Hyperplasia, Congenital
mesh term: Adrenogenital Syndrome
mesh term: Klinefelter Syndrome
mesh term: Kallmann Syndrome
mesh term: Disorders of Sex Development
mesh term: Jacobsen Distal 11q Deletion Syndrome
mesh term: Syndrome
mesh term: Hyperplasia
sharing ipd: Undecided
ipd description: Data available upon reasonable request.