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Dietary treatment of children with Angelman Syndrome and refractory epilepsy

Primary objective: - 50% seizure reduction or more at 3 months of dietary treatment .Secondary objectives: -level of ketosis on KD and MAD.-number of patients maintaining >50% seizure reduction on MAD.-number of withdrawals (not able to…

A Multi-Center, Open-Label Study Evaluating the Safety, Tolerability, and
Efficacy of Pridopidine in Patients with Huntington's Disease

Primary Objective: The primary objective of this study is to evaluate safety and tolerability of pridopidine in patients with HD.Secondary Objectives: The secondary objectives of the study are to assess the effects of long-term, open-label dosing…

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…

[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…

SPACE trial
SMA and Pyridostigmine in Adults and Children; Efficacy trial
Phase II, mono-center, doubleblind, placebo-controlled, crossover trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2, 3 and 4

to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA.

[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…

HORIZON-Plus: An Open-Label Extension of the HORIZON Protocol (DIM20) Evaluating the Safety of Dimebon (Latrepirdine) in Subjects with Huntington Disease

To determine the safety and efficacy of Dimebon in patients with mild to moderate Huntington Disease

Botulinum toxin for treating calf muscle spasticity in Hereditary Spastic Paraparesis (HSP): functional effects on dynamic balance and gait

To show that an individually tailored treatment of the calf muscles with BTX-A promotes the balance capacity and mobility of HSP patients by an effective reduction of spasticity while preserving muscle strength. This explorative study uses a pre-…

Clinical study of the effect of PEEP ventilation on right ventricular afterload in pediatric patients after cardiac surgery.

The objective of the study is to investigate the effect of PEEP ventilation with or without a recruitment maneuver on right ventricular afterload in infants undergoing cardiac surgery.

Robotic toys within occupational therapy for children with developmental disabilities.

Objective:This study has as its aim to examine the short-term effect of a robotic-facilitated play therapy within occupational therapy on the level of playfulness of children with developmental disabilities aged 2-16 years.

*Utrecht Spina Bifida And Graded Exercise (USAGE) Study: physical activity, physical fitness and development of an exercise program to improve daily activities and participation in ambulatory children with Spina Bifida*. Part 1: Development of protocols to measure physical fitness in ambulatory children with Spina Bifida

To develop valid and reproducible protocols to measure cardiorespiratory fitness (VO2peak and energy cost of locomotion) in ambulatory children with SB. These protocols will allow further studies regarding physical fitness in these children.

The effect of additional foot support with or without seat surface forward tilting on upper extremity function in children with spastic cerebral palsy*

To evaluate the effect of additional foot support during sitting and the effect of forward tilting of the seat surface on 1) postural adjustments during reaching and 2) the quality of reaching movement in school age children with CP.

The TRAIN study: Trametinib in neurofibromatosis type 1 related symptomatic plexiform neurofibromas

Primary objective: Response to trametinib treatment defined as a tumor volume decreases from baseline of >=20%, monitored by using volumetric MRI analysis. Secondary objectives are: patient reported outcomes of pain and disability and quality…

An open-label, adaptive multiple-dose study to investigate the pharmacokinetics and pharmacodynamics of RO7234292 in csf and plasma, and safety and tolerability following intrathecal administration in patients with Huntington's disease.

To date, non-clinical and clinical data have been generated to support further investigation of RO7234292 in patients with early manifest HD. Building on the recently completed Phase I/IIa study and the ongoing OLE study, this Phase Ia study (…

A Mindfulness-Based Stress Reduction programme in at-risk mutation carriers of genetic frontotemporal dementia

The present study aims to investigate whether a standardized 8-week group MBSR treatment can significantly reduce symptoms of stress, anxiety and depression, and improve quality of life in at-risk mutation carriers for FTD. The primary objective is…

Effects of sodium lactate infusion in patients with glucose transporter 1 deficiency syndrome (GLUT1DS)

The purpose of this explorative study is to investigate whether treatment with lactate has any positive effect on the symptoms of GLUT1DS, especially the drug-resistant epilepsy.Primary Objective: - To assess changes in EEG during and shortly after…

A Prospective and Retrospective Data Collection Study to Evaluate Outcomes in males <= 17 years of age undergoing Allogeneic Hematopoietic Stem Cell Transplantation for the Treatment of Cerebral Adrenoleukodystrophy.

-Evaluate the safety and efficacy of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in male subjects &lt;= 17 years of age with cerebral adrenoleukodystrophy (CALD)

Applicability of an arm exoskeleton for persons with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

The primary objective of this study is to evaluate upper extremity and trunk function in persons with SMA in different stages of the disease using 3D movement analysis, muscle force measurements, surface electromyography and activity scales. The…

Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1)

The overall goal of this study is to accelerate the development of new therapies for DM1 by validating new clinical assessments for measuring disease status and collecting data and biological samples to help understand disease progression and…

A randomized open-label Phase 2a study to assess the pharmacokinetics and pharmacodynamic parameters of PXL770 after 12 weeks of treatment in male subjects with adrenomyeloneuropathy (AMN)

The primary objective of the study is to assess the pharmacokinetics (PK) of PXL770 in AMN subjects at the dose of 500mg once daily (OD) and 250mg twice daily (BID) after 4 weeks of treatment.