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Clinicopathological MRI and CSF correlates of iron accumulation, neurodegeneration and neuroinflammation in Huntington*s disease.

1. To quantify brain iron accumulation in patient with HD using quantitative susceptibility mapping (QSM) at ultrahigh field (7T) as compared to healthy controls (case-control design).2. To link QSM results with specific and well-known clinical CSF…

Biomarkers in Intermediate Allele Carriers, Adult-, and Early-onset Huntington*s Disease Patients.

The primary objective:To identify fluid and radiological biomarkers, in IA carriers, AHD patients, and EoHD patients, that can be linked to clinical outcome measures. We aim to link longitudinal changes in these biomarkers to disease progression.…

Trial readiness and fitness for congenital myopathies: A 2-year prospective natural history study including a cross-sectional study on muscle fatigability

Part 1: Assess the natural disease course of three congenital myopathies during 24 months. This will enable us to obtain a detailed assessment of the phenotype and genotype, evaluate and optimize the current care, determine the rate of disease…

PROSPAX: An integrated multimodal progression chart in spastic ataxias

Primary Objective: • To chart longitudinal disease progression rates for SPG7 and ARSACS by a multisite, prospective natural history study. Secondary Objective(s): • Development of a new clinical SPAX composite scale.• To identify (a combined set of…

Natural history and biomarker identification in Spinocerebellar Ataxia type 1

Primary Objective- To identify (a combined set of) clinical and non-clinical markers most sensitive to disease progression in Dutch SCA1 mutation carriers. Secondary Objectives:- To quantify the annual change in disease-relevant clinical scales and…

Oxytocin treatment in neonates and infants aged from 0 to 3 months with prader-willi syndrome: a study of the safety and efficacy on oral and social skills and, feeding behavior of intranasal administrations of oxytocin vs. placebo (phase iii clinical trial)

The primary objective is to demonstrate the superiority versus placebo of a 4 weeks intranasal OT administration on oral skills assessed by the Neonatal Oral-Motor Assessment Scale (NOMAS) in infants with PWS aged less than or equal to 3 months at…

Quantifying disease progression in LBSL

Objective: The primary objective of this proposal is to develop new sensitive and quantitative outcome measures for clinical trials in LBSL. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.

A Phase 3 Study of Lenti-D Drug Product After Myeloablative Conditioning Using Busulfan and Fludarabine in Subjects <=17 Years of Age With Cerebral Adrenoleukodystrophy (CALD)

To evaluate the efficacy and safety of Lenti-D Drug Product (also known as elivaldogene autotemcel or Skysona, hereafter referred to as eli-cel) after myeloablative conditioning with busulfan and fludarabine in subjects with CALD

A study to explore the safety, tolerability, pharmacokinetic profile, and potential efficacy of Guanabenz in patients with early childhood onset Vanishing White Matter (VWM)

To evaluate safety, tolerability pharmacokinetic profile; to explore pharmacodynamics; to evaluate major effects of Guanabenz on quantitative MRI and clinical parameters in pediatric patients with VWM; explore biomarkers in blood and cerebrospinal…

Neuroimaging biomarkers in Huntington*s Disease after 16 years of disease progression

Our primary objective is to compare neuroimaging markers on a 3T MRI-scan with the MRI-scans that were performed during TRACK-HD in 2008-2011. We will assess the following neuroimaging markers, starting with the most important marker: 1. Structural…

Evaluating the value of neuromechanical assessment in spasticity treatment

1. Evaluate the relation between pretreatment muscle weaknesses, spasticity, abnormal synergies, and changes in viscoelastic joint properties on the one hand, and changes in upper extremity spasticity following treatment on the other hand in…

Phenotyping behaviour and development in Dravet Syndrome

In this study, we aim to describe cognition and behaviour in patients with DS and analyse correlations between behavioural difficulties and various characteristics including: seizure severity; medication use; level of cognitive functioning; and…

Prospective, Retrospective, Multicenter, Observational Study of Disease Progression in Adults with Inherited Forms of Spastic Paraplegia

Study Objectives:• To characterize disease progression (clinical and rehabilitation) in adults diagnosed with AMN• To characterize the change in Quality of Life (QoL) parameters• To characterize the change in electrophysiological (EP) parameters• To…

A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension (RESILIENT)

This study has been transitioned to CTIS with ID 2024-511852-42-00 check the CTIS register for the current data. Primary Objective:To evaluate the efficacy of taldefgrobep alfa in participants who are already taking a stable dose of nusinersen or…

AN OPEN-LABEL, MULTI-CENTRE STUDY TO EVALUATE THE LONG-TERM SAFETY AND TOLERABILITY OF REN001 IN SUBJECTS WITH PRIMARY MITOCHONDRIAL MYOPATHY (PMM)

Primary Objective:To evaluate long-term safety and tolerability of REN001 in subjects with PMM.Secondary Objective:To evaluate subjects with mtDNA-PMM who are receiving long-term treatment with REN001 in terms of PMM associated symptoms, exercise…

Metabolomics in Dravet syndrome

Primary Objectives: 1. To assess the metabolic profile of patients with Dravet syndrome and identify metabolic variations that contribute to the pathophysiology of seizures and developmental delaySecondary Objectives:2. To assess the association…

Old Title: International, multi-center, open label 9-month FOLLOW-UP extension study assessing the long term safety and tolerability of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A.;New title : International, multi-center, open label FOLLOW-UP extension study assessing the long term safety and tolerability of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A.

The primary objectives:Period 1:The primary objective is to assess the long-term (up to 2 years) safety and tolerability of two doses of PXT3003.Period 2:For patients continuing after V9, the main objective will be to offer patients the opportunity…

A phase 1/2a, open-label trial to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of multiple ascending doses of intrathecally administered VO659 in participants with spinocerebellar ataxia types 1, 3 and Huntington*s disease

This study has been transitioned to CTIS with ID 2024-514328-18-00 check the CTIS register for the current data. Primary Objective:To evaluate the safety and tolerability of multiple doses of intrathecal lumbar bolus administrations of VO659 in…

A Phase 1-3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION363 in Amyotrophic Lateral Sclerosis patients with Fused in Sarcoma mutations (FUS-ALS)

This study has been transitioned to CTIS with ID 2024-512163-31-00 check the CTIS register for the current data. Primary objective: To evaluate the clinical efficacy of ION363 in clinical functioning and survival in FUS-ALS patients. Secondary…

Longterm Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product

This study has been transitioned to CTIS with ID 2024-513904-33-00 check the CTIS register for the current data. • Monitor for long-term safety of the eli-cel administered in parent clinical studies• Monitor for long-term efficacy of eli-cel…