Search for a trial

Abnormal number of fetal ribs or vertebrae and associated congenital abnormalities and adverse fetal outcome; The need for prenatal detection of rib and vertebral abnormalities by 2D&3D-ultrasound.

The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…

Epigenetic biomarkers to predict psoriasis disease progression * towards tailored therapy.

Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…

Development of individual therapy for cystic fibrosis using primary epithelial tissue cultures

The overall aim of the study is to improve diagnostic and therapeutic options for people with CF, especially in the context of young children and novel CFTR-targeting drugs. Primary Objective: 1. to demonstrate relations between CFTR genotype,…

Fatigability in Spinal Muscular Atrophy

To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.

Optical coherence tomography (OTC) in the follow-up of patients with X-linked adrenoleukodystrophy (X-ALD) and Zellweger spectrum disorders (ZSD).

Objective of this study is to determine if Optical Coherence Tomography (OCT) measurements are a reliable measure of the severity of neurological impairment in patients with X-ALD and ZSD and therefore if OCT is an acceptable "surrogate"…

Cerebrovascular manifestations of vascular Amyloid deposition in HCHWA-D | An assessment of the cerebrovascular reactivity in Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) patients using Magnetic Resonance Imaging and transcranial Doppler.

The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…

Assessment of real life and trained inhalation of Tobramycin Inhalation Powder (TIP) and Tobramycin Inhalation Solution (TIS) TIPTIS study.

Primary objective of the study is to record TIP inhalations on video at home to study the association between inhalation manoeuver and cough. Secondary objectives are: To study the inhalation maneuvers of patients using TIP in the home situation; to…

Sexual functioning in women with the Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) and their partners and physiological sexual arousal responses in these women with a surgical or non-surgical created neovagina

The study comprises 2 parts.Part 1: Primary: to assess sexual functioning, sexual self image and psychological and relational functioning in MRKH women with surgical or non- surgical created neovaginas and their partners and make a comparison with…

Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms

Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.

Mastication training in adult patients with mitochondrial diseases: a pilot study.

The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .

Effectiveness of Eye Movement Desensitization and Reprocessing on Post Traumatic Stress Disorder in persons with mild intellectual disability and psychosis: A multiple baseline study

The main purpose of this study is to find out whether EMDR is a safe and effective treatment to reduce the symptoms of PTSD in people with mild intellectual disability and borderline intellectual functioning. In addition, it is expected to reduce…

Triple X syndrome in adults: cognitive, psychiatric and neuroanatomical profile

Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…

Searching for Explanations for Cryptogenic Stroke in the
Young: Revealing the Etiology, Triggers, and Outcome

Area of interest (study setting): Specific aims:Transient triggers and chronic riskfactors (case-crossover and casecontrol)(1) To investigate frequency and strength of association between transient physical andpsychological triggers and early-onset…

Assessment of degeneration of the auditory nerve by diffusion tensor imaging in unilaterally and bilaterally deaf adults

Firstly, comparison of DTI outcome variables between the auditory nerve of a deaf ear with that of a normal ear. Secondly, in patients who receive a CI, DTI measures will be compared to measures derived from electrically evoked compound action…

Phenotype prediction in patients with X-linked adrenoleukodystrophy: a prospective study.

The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…

Creation of disease model systems to understand and correct genetic diseases through gene or other therapy using iPS cells derived from somatic cells: *the iPS study*
Addendum A: "Informatie voor proefpersonen en bijbehorend toestemmingsformulier voor de vervaardiging en het gebruik van geïnduceerde Pluripotente Stamcellen (iPS cellen) voor patiënten met een cardiovasculaire aandoening."

Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…

Executive and social functioning in early- and continuously-treated patients with PKU: A follow-up study 10 years later

The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…

[LONGPDE10] Follow-up measurement of brain phosphodiesterase 10 A (PDE10A) enzyme levels in Huntington*s disease gene expansion carriers, 18 to 28 months after initial PET measurement in CHDIKI1201/PET-HD-PDE10A

The primary objective is to measure the longitudinal changes of PDE10A enzyme availability in the caudate, putamen, and globus pallidus of Huntington*s Disease Gene Expansion Carrier (HDGECs) by comparison of the follow-up and initial Positron…

Assessment of laser speckle contrast imaging (LSCI) and dynamic light scattering (mDLSTM) to detect differences in blood flow and coagulation between healthy volunteers and patients with coagulation disorders or hemoglobinopathies

Primary objective- Short- and mid-term repeatability of mDLS and LSCI measures;- Comparison of blood flow obtained by LSCI and blood flow obtained by mDLS;- Comparison of coagulation status obtained by mDLS and coagulation status assessed by…

Neuropsychological assessment in X-linked adrenoleukodystrophy

The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…