13 results
Primary objective: To evaluate whether intellectual disability and facial dysmorphology are associated with an increased clinical diagnostic yield of genetic testing among patients with a psychiatric illness.Secondary objective: To investigate the…
This will be an explorative study to examine the value of high-resolution ultrasound (HRUS) of the peripheral nerves in NF1 patients. The primary objective of this study is to determine HRUS abnormalities in a large group of NF1 patients, and to…
This study has been transitioned to CTIS with ID 2023-508365-33-00 check the CTIS register for the current data. To determine the efficacy of ALNTTRSC02 in patients with hATTR amyloidosis by evaluating the effect on neurologic impairment. To…
The primary objective is the development of a computer-aided diagnosis tool (CAD-tool) that enables specialists to improve the diagnosis, treatment, and evaluation of hyperkinetic movement disorders. The secondary objectives is are: 1) To analyze…
Primary: To assess the efficacy of GNX compared with PBO, as adjunctive therapy for the treatment of primary seizure types in children with genetically-confirmed PCDH19-related epilepsy during the 17-week double-blind (DB) phase. Secondary: • To…
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…
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
To develop a feasible assessment protocol to quantify the impaired upper extremity function in terms of muscle weakness, spasticity, synergy and viscoelastic properties around the elbow.To evaluate the reliability (test-retest, measurement error)…
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 (…
The primary objective of the study is to develop new sensitive and quantitative outcome measures for clinical trials in ALD. The secondary objective is to identify biomarkers to stratify patients based on disease progression rate.
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…
The goals of this study are to examine the aetiology and daily impact of peripheral neuropathy in MLD patients over time, and to identify dynamic biomarkers that correlate with the severity of peripheral neuropathy over time, and might predict…
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…