22 results
Primary objective: 1) To examine the effect of IGSF1 deficiency syndrome on semen quality when compared to WHO reference ranges;2) The comparison of semen quality of these patients to that of healthy controls.To investigate the association between…
The aim of this study is to determine novel (bio)markers that show a stronger correlation with signs of over- and under-treatment than the conventional adrenal steroid profile in children with CAH.
1. Normalization of the abnormal serum TH parameters and thereby improving the clinical condition of the AHDS patients2. Observation of changes in cognitive and motor function.
To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.
The family with the TRα2 premature stop enables us to investigate the biological role of the orphan wild-type TRα2 and the consequences of its dysfunction. The primary objectives of this proposal are (i) to search for a biological function of TRα2…
The objective of this study is to investigate cardiac sympathetic ativity in subjects with 22q11DS and the effect of catecholamine depletion.
Objective 1: To improve clinical practice in the management of disorders of sex development (DSD)Objective 2: To develop accepted evidence-based clinical guidelines for a better clinical care of patients with DSD affected by distinct genetic…
The primary objective is to determine if disease associated lesions in patients with VHLD can be visualized with 89Zr-bevacizumab PET scans. Secondary objectives are to explore if 89Zr-bevacizumab PET imaging can differentiate progressive from non-…
The aim of the study is to assess the long-term effects (at adult age) of the TOS study medication (growth hormone and estrogen with or without Ox), with specific attention to adult height and body proportions, body composition, virilization,…
Which combinations of mutations in the HFE and HJV and other genes involved in iron metabolism are associated to iron overload?
This study is being conducted in patients with familial hypercholesterolaemia (FH) to:1. Assess the efficacy of colesevelam added to a maximal tolerated and stable regimen of statin and ezetimibe in further decreasing the low-density lipoprotein (…
The main study aim is the in vivo and ex vivo investigation of the expression and distribution of the GLP-1R in the pancreas of children (< 16 years) with proven endogenous congenital hyperinsulinism who qualify for surgery based on response…
To evaluate the effects of GH, after final height is reached, on weight, body composition, psychosocial functioning, carbohydrate metabolism and serum lipids. To find an optimal dose growth hormone for adults with PWS. We aimed to stabilize the body…
This study has been transitioned to CTIS with ID 2023-503771-13-00 check the CTIS register for the current data. The purpose of this study is to see if tildacerfont can reduce the amount of GC (e.g., hydrocortisone) you need to take and reduce the…
The primary purpose of this study is to assess the dose response of several doses of tildacerfont in controlling hormone levels and reducing testicular tumors over 12 weeks by comparing the tildacerfont hormonal control response to a placebo, a *…
The perception of adult females diagnosed with CAH, who underwent genital surgery in childhood, on early feminizing surgery.
This study has been transitioned to CTIS with ID 2024-514337-38-00 check the CTIS register for the current data. PrimaryTo evaluate the efficacy of DTX301 on the improvement of OTC function by maintaining safe plasma ammonia levelsSecondaryTo…
This study has been transitioned to CTIS with ID 2024-516124-34-00 check the CTIS register for the current data. Primary Objective:• To evaluate the effects of withdrawal of tiratricol treatment (placebo group) on serum total triiodothyronine (T3)…
In this study we will investigate how safe specific doses of the compound paltusotine are and how well these are tolerated when they are used by healthy participants.We also investigate how much of the compound is broken down and absorbed in the…
In this predominantly observational study all patients diagnosed with CH-C in the Netherlands between 1-1-1995 and 1-1-2015 will be traced and the following research questions will be addressed:1) What is the mortality rate associated with early…