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A Multicenter, Open-Label, Extension Study to Evaluate the Long-term Safety and Efficacy of Patisiran in Patients with Familial Amyloidotic Polyneuropathy Who Have Completed a Prior Clinical Study with Patisiran

To assess the safety and efficacy of long-term dosing with patisiran in transthyretin-mediated amyloidosis (ATTR) patients with familial amyloidotic polyneuropathy (FAP)

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 (…

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 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…

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…

The effect of Lamotrigine on cognitive deficits associated with Neurofibromatosis type 1: a phase II randomized controlled multi-centre trial (NF1-EXCEL)

The objective of this proposal is to determine the effect of Lamotrigine on cognitive functioning and neurophysiology in adolescents with NF1.

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…

International, multi-center, randomized, double-blind, placebo-controlled phase III study assessing in parallel groups the efficacy and safety of 2 doses of PXT3003 in patients with Charcot-Marie-Tooth Disease type 1A treated 15 months

Primary objective:To assess the efficacy of PXT3003 compared to Placebo on the disability measured by the ONLS score in CMT1A patients treated for 15 months.Secondary objectives:- To assess the efficacy of PXT3003 compared to Placebo on clinical and…