Prader-Willi SyndromeGROW UR GENESNCT04463316
GROWing Up With Rare GENEtic Syndromes
An observational study of Prader-Willi Syndrome and PWS-like Syndrome, run by dr. Laura C. G. de Graaff-Herder at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome
- What is being tested?
- Retrospective file studies
- How many people
- 600 participants
- Where
- 1 siteNetherlands
- Study dates
- 1 Oct 2018to 1 Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with complex genetic syndromes
Who may be able to join
- 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.
Who cannot join
- None
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus Medical Center
Rotterdam, South Holland, 3015 GD
Laura CG de Graaff, MD, PhD, +31618843010, l.degraaff@erasmusmc.nl
Sabine E Hannema
About this study
Official title: 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.
Read more
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:
- 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.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism, Klinefelter (XXY-)Syndrome, Congenital Adrenal Hyperplasia
- Being tested
- Retrospective file studies
- Medical subject headings
- Prader-Willi Syndrome, Klinefelter Syndrome, Adrenal Hyperplasia, Congenital, Tetrasomy X, Disorders of Sex Development, Turner Syndrome, Disorder of Sex Development, 46,XY, Tuberous Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Retrospective file studiesDiagnostic test
No intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints.
What is being measured
The primary outcome is the main question the study is designed to answer.
Presence of physical health problems
For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.
Measured: 1 year
Laboratory values
For example: glucose, hemoglobin, hematocrit, thyroid hormone, TSH, estrogen, testosterone, LH, FSH, LDL-cholesterol, triglycerides, ASAT, ALAT, gamma-GT, etc
Measured: 1 year
Physical and psychological complaints
For example: daytime sleepiness, obstipation, back pain, headache, behavioral problems, fatigue, nycturia, blurry vision, depressive symptoms, etc.
Measured: 1 year
Medication use
Use of all medication
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2020
- Study start1 Oct 2018
- Primary completion1 Jan 2030 (estimated)
- Study completion1 Jan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Prader-Willi SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- dr. Laura C. G. de Graaff-Herder
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, dr. Laura C. G. de Graaff-Herder, Erasmus Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04463316
- Sponsor's protocol ID
- MEC-2018-1389
- Acronym
- GROW UR GENES
- Status last verified
- Sep 2023
- First submitted
- 2 Jul 2020
- Last updated
- 6 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Data available upon reasonable request.
Study at a glance
From the registry record, last updated by the sponsor on 6 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
- ClinicalTrials.gov ID
- NCT04463316
- Acronym / sponsor ID
- GROW UR GENES / MEC-2018-1389
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism, Klinefelter (XXY-)Syndrome, Congenital Adrenal Hyperplasia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 600 participants (estimated)
- Lead sponsor
- dr. Laura C. G. de Graaff-HerderUniversity, hospital or other
- Study start
- 1 Oct 2018 (actual)
- Primary completion
- 1 Jan 2030 (estimated)
- Study completion
- 1 Jan 2030 (estimated)
- First posted
- 9 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with complex genetic syndromes
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Retrospective file studiesNo intevention, retrospective file study: medical history, laboratory values, additional tests, physical and psychological complaints. | Diagnostic test | – |
Primary outcome
Presence of physical health problems
Time frame: 1 year
For example: presence of hypertension, diabetes mellitus, hypercholesterolemia, scoliosis, sleep apnea, hypothyroidism, obesity, psychosis etc.
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
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.
Medication use
Time frame: 1 year
Use of all medication
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Sep 2023.
- Individual participant dataSharing planned: Undecided. Data available upon reasonable request.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Prader-Willi Syndrome and PWS-like Syndrome, run by dr. Laura C. G. de Graaff-Herder at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Presence of physical health problems (time frame: 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Sep 2023.