GROWing Up With Rare GENEtic Syndromes

NCT04463316 | Recruiting

• 1 other identifier: MEC-2018-1389
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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. 1.comorbidities
2. 2.medical and their impact on quality of life
3. 3.medication use
4. 4.the need for adaption of medication dose according to each syndrome

Conditions

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

Outcome Measures

Primary Outcomes (4)

• 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

Interventions

Retrospective file studies DIAGNOSTIC_TEST

No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with complex genetic syndromes

You may qualify if:

• 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.

You may not qualify if:

• None

Sponsors & Collaborators

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

Study Sites (1)

Erasmus Medical Center

Rotterdam, South Holland, 3015 GD, Netherlands

RECRUITING

MeSH Terms

Conditions

Prader-Willi Syndrome; Klinefelter Syndrome; Adrenal Hyperplasia, Congenital; Tetrasomy X; Disorders of Sex Development; Turner Syndrome; Disorder of Sex Development, 46,XY; Tuberous Sclerosis; Neurofibromatoses; De Lange Syndrome; Acrocephalosyndactylia; DiGeorge Syndrome; Blepharophimosis syndrome Ohdo type; Jacobsen Distal 11q Deletion Syndrome; CHARGE Syndrome; Bardet-Biedl Syndrome; Rett Syndrome; 22q11 Deletion Syndrome; Allan-Herndon-Dudley syndrome; Kallmann Syndrome; Noonan Syndrome; Williams Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Sex Chromosome Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Adrenogenital Syndrome; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Adrenal Gland Diseases; Gonadal Dysgenesis; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Craniosynostoses; Synostosis; Dysostoses; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Syndactyly; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Limb Deformities, Congenital; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypoparathyroidism; Parathyroid Diseases; Thrombocytopenia; Blood Platelet Disorders; Hematologic Diseases; Cytopenia; Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Blindness; Vision Disorders; Coloboma; Eye Diseases, Hereditary; Eye Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Retinitis Pigmentosa; Ciliopathies; X-Linked Intellectual Disability; Genetic Diseases, X-Linked; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal investigator

Study Record Dates

• First Submitted: July 2, 2020
• First Posted: July 9, 2020
• Study Start: October 1, 2018
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030
• Last Updated: September 6, 2023

Record last verified: 2023-09

Locations

NL (1)