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Semen analysis in males with IGSF1 deficiency syndrome

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…

Thyroid hormone analog therapy of patients with severe psychomotor retardation caused by mutations in the MCT8 thyroid hormone transporter: The Triac Trial.

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.

Unraveling genetic causes of congenital multiple pituitary hormone deficiencies

To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.

Cardiac sympathetic activity in 22q11 deletion syndrome.

The objective of this study is to investigate cardiac sympathetic ativity in subjects with 22q11DS and the effect of catecholamine depletion.

Outcome study on gender identity, sexual functioning and psychological well being in patients with a disorder of sexual differentiation

In this study the prevalence and kind of sexual and psychosexual problems will be assessed. Psychological well being is studied as well

Blood pressure and steroid metabolism in the first year of life in patients with congenital adrenal hyperplasia (CAH): a longitudinal study

To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…

Transition of care in women with Turner syndrome: Oxandrolone follow-up study

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,…

Betacell and endothelial function in subjects with EXT-1 or EXT-2 mutations

Assessment of glucose homeostasis and endothelial function and glycocalyx status in 30 subjects with heterozygous mutations in EXT1 or EXT2 and 30 unaffected related controls.

Characterization of functionality of HDL in patients with familial hypercholesterolemia

1. to investigate whether the known chronic inflammatory and hyperoxidative state in patients with severely increased LDL is associated with dysfunctional HDL.2. to investigate whether CVD in FH is associated with dysfunctional HDL.

Genotype-phenotype relation within families with various forms of hereditary hemochromatosis

Which combinations of mutations in the HFE and HJV and other genes involved in iron metabolism are associated to iron overload?

A Phase 4 Randomised, Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Centre Study of Colesevelam as Add-on Therapy in Patients with Familial Hypercholesterolaemia.

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 (…

Effect of treatment with levothyroxine in a patient with thyroid hormone receptor *1 deficiency

Objective: The primary objective of the study is to determine the effect of standard treatment with levothyroxine in TR*1 deficiency on:- Neutrophil and macrophage function- Erythropoiesis- Thyroid hormone target gene expression- Plasma metabolome

Young adult Prader-Willi (YAP) Syndrome Study: Effects of growth hormone after final height: A clinical care to the optimal dosage of growth hormone in young adults with PWS.

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…

A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Reducing Supraphysiologic Glucocorticoid Use in Adult Subjects with Classic Congenital Adrenal Hyperplasia

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…

A Randomized, Double-Blind, Placebo-Controlled, Dose-Ranging Study to Evaluate the Efficacy and Safety of SPR001 (Tildacerfont) in Adult Subjects with Classic Congenital Adrenal Hyperplasia

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 *…

Withdrawal of Tiratricol Treatment in Males with Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency): A Double-blind, Randomized, Placebo-controlled Study

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)…

A Phase 1, Double-blind, Randomized, Placebo-controlled, Single Ascending Dose Study To Evaluate The Safety, Tolerability, And Pharmacokinetics Of Paltusotine In Healthy Subjects

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…

Consequences of (recurrent) hypoglycaemia on cardiovascular and inflammatory responses in patients with diabetes mellictus type 1, type 2 and healthy volunteers

Primary objective:* To investigate the consequences of (recurrent) hypoglycaemia on inflammatory responsesSecondary objectives:* To study the atherogenic consequences of (recurrent) hypoglycaemia* To study the molecular mechanisms involved in the…

Congenital central hypothyroidism plusminus ACTH or growth hormone deficiency: etiology and outcome

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…

Do mutations in the TBL1X gene alter sensitivity to thyroid hormone?

To determine the effect of mutations in the TBL1X gene on TH dependent signalling in liver cells generated from iPSCs.