GROWing Up With Rare GENEtic Syndromes
-
- STATUS
- Recruiting
-
- End date
- Jan 1, 2030
-
- participants needed
- 600
-
- sponsor
- dr. Laura C. G. de Graaff-Herder
Summary
Introduction Rare complex syndromes Patients with complex
Increased life expectancy Although many
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
The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:
- comorbidities
- medical and their impact on quality of life
- medication use
- 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.
Details
| Condition | Prader-Willi Syndrome, Noonan Syndrome, Male Pseudohermaphroditism, Tuberous Sclerosis, Neurofibromatosis, Neurofibromatosis, Hermaphroditism, Rett Syndrome, Cornelia De Lange Syndrome, Kallmann's Syndrome, CHARGE Syndrome, CONNECTIVE TISSUE DISEASE, dermatomyositis (connective tissue disease), Congenital adrenal hyperplasia, Congenital adrenal hyperplasia, Hypogonadism, Hypogonadism, Klinefelter's Syndrome, Congenital Heart Defect, Congenital Heart Disease, NF1 gene, Williams Syndrome, Hereditary Neoplastic Syndrome, hereditary cancer syndromes, Bardet-Biedl Syndrome, Obesity, Obesity, DiGeorge Syndrome, Turner's Syndrome, Saethre-Chotzen Syndrome, 22q11 Deletion Syndrome, Congenital Heart Disease, dermatomyositis (connective tissue disease), hereditary cancer syndromes, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism, XXXX Syndrome (Tetra-X Syndrome), Albright Hereditaire Osteodystrofie, 17p- Deletiesyndrome, POLR3A Mutatie, Ohdo Syndrome, Jacobsen Syndrome / 11 q Syndrome, Myrhe Syndrome, 1q25-32 Deletie, Allan-Herndon-Dudley Syndrome, Rare Bone Disorders |
|---|---|
| Age | 18years - 100years |
| Treatment | Retrospective file studies |
| Clinical Study Identifier | NCT04463316 |
| Sponsor | dr. Laura C. G. de Graaff-Herder |
| Last Modified on | 19 February 2024 |
How to participate?
,
Select a site
Enter your location to find study centers near you
study centers available
Send a message
Enter your contact details to connect with study team
Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.
Learn moreIf you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.
Learn moreComplete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.
Learn moreSimilar trials to consider
Browse trials for
Not finding what you're looking for?
Sign up as a volunteer to stay informed
Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.
Sign up as volunteerStudy AnnotationsStudy Notes
Enable the functional cookies in order to view/reply the sharedadd your annotations.
Add a private note
- Select a piece of text from the left.
- Add notes visible only to you.
- Send it to people through a passcode protected link.
Publish Annotation
Are you sure you want to publish the annotation?
Delete AnnotationNote
Are you sure you want to delete the annotationnote?
Study Definition
WikipediaAdd a private note
- Select a piece of text.
- Add notes visible only to you.
- Send it to people through a passcode protected link.