Observing the health management of patients with rare genetic syndromes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on patients with rare genetic syndromes, such as Prader-Willi Syndrome and Klinefelter Syndrome, who receive multidisciplinary care at a specialized outpatient clinic. The study aims to assess the complexities of managing these syndromes as patients transition from pediatric to adult care, highlighting the need for coordinated health management to address ongoing medical issues. By analyzing patient files, the study seeks to improve understanding of the long-term care needs of individuals with these conditions.

Why it matters

Who can join: the full rules

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

Where it's running

• Erasmus Medical Center
  Rotterdam, South Holland, Netherlands Recruiting

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Registry for Rare Diseases

  This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.

  Recruiting Hospital Italiano de Buenos Aires · Buenos Aires, Buenos Aires · NCT06573723

• Comparing Sertraline and Placebo for Treating Anxiety in Children with Neurodevelopmental Disorders

  This study is testing if the medication sertraline can help reduce anxiety in children and teens aged 8-17 with neurodevelopmental disorders like autism and Fragile X syndrome compared to a placebo.

  Recruiting at 6 sites Phase 2 Holland Bloorview Kids Rehabilitation Hospital · Calgary, Alberta and 6 other locations · NCT06081348

• National Registry for Noonan Syndrome (Italy)

  This registry will collect genetic and clinical information from people with Noonan syndrome in Italy to understand how the condition changes over time and how treatments like growth hormone may work.

  Recruiting at 35 sites Istituto Giannina Gaslini · Ancona and 34 other locations · NCT07881159

• Neuroradiology Features in Noonan Syndrome and Gene-Linked Brain Differences

  This study tests brain MRI and MR angiography in people with Noonan syndrome to see how brain imaging patterns relate to their specific genetic mutations.

  Recruiting at 10 sites Istituto Giannina Gaslini · Bari and 9 other locations · NCT07881081

• Setmelanotide in BBS and related genetic obesity: real-world effects

  This study tests how well Setmelanotide works and is tolerated in people with Bardet-Biedl syndrome or similar genetic obesity conditions in routine clinical care.

  Recruiting Phase 4 University Hospital, Essen · Essen · NCT07674290

• Inpegsomatropin vs Givopegsomatropin for short stature in girls with Turner syndrome

  A 52-week, multicenter, randomized study tests whether Inpegsomatropin injections help prepubertal girls with Turner syndrome grow taller compared with a known treatment.

  Recruiting at 49 sites Phase 3 Xiamen Amoytop Biotech Co., Ltd. · Anyang and 50 other locations · NCT07614152

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.