GROWing Up With Rare GENEtic Syndromes (GROW UR GENES)

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

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.

Study Overview

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

• Study Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

Study Locations

• Netherlands
  • Zuid-Holland
    • Rotterdam, Zuid-Holland, Netherlands, 3015 GD
      • Recruiting
      • Erasmus Medical Center
      • Contact: Laura CG de Graaff, MD, PhD; Phone Number: +31618843010; Email: l.degraaff@erasmusmc.nl
      • Sub-Investigator: Sabine E Hannema

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with complex genetic syndromes

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: dr. Laura C. G. de Graaff-Herder

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2018
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: July 2, 2020
• First Submitted That Met QC Criteria: July 3, 2020
• First Posted (Actual): July 9, 2020

Study Record Updates

• Last Update Posted (Estimated): September 6, 2023
• Last Update Submitted That Met QC Criteria: September 4, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neoplasms by Histologic Type; Neoplasms; Lymphatic Diseases; Eye Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Endocrine System Diseases; Disease; Gonadal Disorders; Urogenital Abnormalities; Congenital Abnormalities; Hematologic Diseases; Overnutrition; Nutrition Disorders; Overweight; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Connective Tissue Diseases; Parathyroid Diseases; Otorhinolaryngologic Diseases; Neurodegenerative Diseases; Neoplasms, Nerve Tissue; Ear Diseases; Aortic Valve Disease; Heart Valve Diseases; Hypothalamic Diseases; Eye Diseases, Hereditary; Bone Diseases; Metabolism, Inborn Errors; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Thrombocytopenia; Blood Platelet Disorders; Sensation Disorders; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Disorder of Sex Development, 46,XY; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Pituitary Diseases; Abnormalities, Multiple; Chromosome Disorders; Hearing Disorders; Obesity; Bone Diseases, Developmental; Vision Disorders; Sex Chromosome Disorders; Limb Deformities, Congenital; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Adrenal Gland Diseases; Deaf-Blind Disorders; Blindness; Ciliopathies; Aortic Valve Stenosis; Steroid Metabolism, Inborn Errors; Sex Chromosome Disorders of Sex Development; Hamartoma; Neoplasms, Multiple Primary; Neurofibroma; Dysostoses; Hearing Loss; Retinitis Pigmentosa; Deafness; Lymphatic Abnormalities; Hypoparathyroidism; Aortic Stenosis, Supravalvular; Hypogonadism; Synostosis; Syndactyly; Gonadal Dysgenesis; Coloboma; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Syndrome; Hyperplasia; Kallmann Syndrome; Prader-Willi Syndrome; Neurofibromatoses; Rett Syndrome; Hypopituitarism; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Turner Syndrome; Williams Syndrome; Noonan Syndrome; Tuberous Sclerosis; Bardet-Biedl Syndrome; Laurence-Moon Syndrome; DiGeorge Syndrome; 22q11 Deletion Syndrome; Disorders of Sex Development; Klinefelter Syndrome; Craniosynostoses; De Lange Syndrome; Acrocephalosyndactylia; CHARGE Syndrome; Jacobsen Distal 11q Deletion Syndrome
• Other Study ID Numbers: MEC-2018-1389

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: Data available upon reasonable request.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No