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[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…

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…

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…

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 .

Bèta-TCP (bèta-tricalcium phosphate) as a bone substitute in patients undergoing repair of the alveolar cleft in CLP(Cleft Lip Palate) patients.

This current study aims to investigate the use of Curios bèta-TCP, a synthetic tricalcium phosphate for repair of the alveolar cleft in patients with clefts of lip, alveolus and palate.The specific properties of Progentix TCP result in optimal and…

The feasibility, reliability and validity of the MOX-accelerometer in measuring daily physical endurance in children with a mitochondrial disorder

In this study, we aim to test the feasibilty, reliability and validity of the MOX-accelerometer in measuring daily physical activity in children with mitochondrial disease.

Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects.

To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder

Prospective study on the treatment of congenital vaginal agenesis or vaginal hypoplasia - genital reconstruction, gynecological and urological aspects, psychosexual and social aspects and quality of life

Evaluation study on the effectiveness of a new developed vaginal dilatation programme for medical-psychological treatment of vaginal hypoplasia / agenesis.

Taste, Speech and oro-facial relations following partial tongue reduction: A single-center, longitudinal, functional outcome study in patients with Beckwith-Wiedemann Syndrome that have undergone tongue reduction surgery

The aim of this study is to investigate the long-term outcomes in patients with BWS that have been surgically treated at our institution with the help of simple, non-invasive, objective study tools. We hope to gain valuable information regarding the…

Mucoviscidosis and Inflammation, Variability through Exercise and Training: physical exercise program

Primary objective:What is the effect of a 12 weeks physical exercise program on the exercise induced inflammatory response in patients with cystic fibrosis?Secundary objectives:- What are the differences in pre-training basal immune values of…

A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

To evaluate the long-term safety and efficacy of BMN 110 administration at 2.0 mg/kg/qw and 2.0 mg/kg/qow in patients with MPS IVA.

Nipple sensitivity after prophylactic nipple-sparing mastectomy compared to healthy BRCA1/2 gene mutation carriers.

The aim of this study is to objectify nipple-areola complex sensitivity in women who underwent unilateral or bilateral prophylactic NSM in Erasmus MC-Daniel den Hoed Cancer Center and their satisfaction with this operation, compared to healthy women…

The efficacy of a physical intervention study for the improvement of the rest-activity rhythm and working memory in persons with Down*s syndrome suffering from Alzheimer*s disease. A pilot-study

The primary objective of the study is to examine the feasibility of measurements, program design and implementation adherence of a cardiovascular exercise program in persons with Down*s syndrome suffering from Alzheimer*s disease. Secondary…

Prospective study in congenital giant melanocytic naevi after curettage and laser ablation with the Erbium YAG laser (left-right comparison)

Proof that laser treatment will be better than the routine method using curettage. Besides it is claimed that laser treatment is less painfull.This will be assessed by photography, in which only black white (grey) evaluations are made. Colours are…

The use of β-TCP (bèta-tricalcium phosphate) as a filler of the autologous symphyseal bone graft harvest site in patients undergoing grafting of alveolar clefts in CLAP(Cleft Lip Alveolus Palate) patients

This current study aims to investigate the use of bèta-TCP, a synthetic tricalcium phosphate, as a filler of the autologous symphyseal bone graft harvest site in patients undergoing grafting of clefts of lip, alveolus and palate.The specific…

Mucoviscidosis and Inflammation, Variability through Exercise and Training: Maximal exercise test

Primary objective: *What is the effect of an incremental maximal exercise test on inflammation in patients with cystic fibrosis and in healthy people?*Secundary objectives:- What are the differences in basal immune values between HP and CF patients…

Evaluation of the ex vivo effect of AG-348 treatment on pyruvate kinase-deficient cell metabolism and erythroid development

To extend and strengthen the initial pilot observations on PKD red blood cells, and thereby further establish the activity of AG-348 treatment for PKD, UMC Utrecht and Agios Pharmaceuticals will collaborate in this pre-clinical study. In particular…

[PETDE10] Imaging of phosphodiesterase 10 A (PDE10A) enzyme levels in the living human brain of Huntington*s disease gene expansion carriers and healthy controls with positron emission tomography

The primary objective is to measure the availability of the PDE10A enzyme in Huntington*s Disease (HD)gene expansion carriers (HDGECs) by estimating and comparing the distribution volume (VT) of the radioligand [18F]MNI-659 in the striatum (caudate…

A Phase 3, Single-Blind Study to Evaluate the Effect of Eleclazine on Shortening of the QT Interval, Safety, and Tolerability in Subjects with Long QT Syndrome type 3.

The primary objective of this study is to evaluate in subjects with LQT3:- The effect of oral eleclazine on mean daytime QTcF interval (in msec) after 24 weeks of treatment with eleclazine (based on standard 12-lead electrocardiogram [ECG] data)The…

Optimal timing and technique for surgical correction of peri-orbital osseous deformities in congenital craniofacial disorders

Primary objective:To determine the most optimal technique and timing of surgery for correction of peri-orbital osseous deformities (hypertelorism, vertical orbital dystopia, and/or midface hypoplasia) for each specific condition (1. syndromic…