Clinical trials: Brain Malformation, active
Phenylketonuria (PKU)
A Study of MZE782 in Adults With PKU
The purpose of this study is to evaluate the safety, tolerability, and efficacy of MZE782 in adults with Phenylketonuria (PKU).
- Trial name
- CIPheR (NCT07694440)
- Testing
- MZE782
- Where
- 9 sites in United States, France and 1 more
- Volunteers
- 38 people
- Sponsor
- Maze Therapeutics
Acute Liver Failure, Wilson Disease
Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity.
- Trial name
- NCT06698991
- Testing
- Plasma Exchange, Standard Medical Treatment
- Where
- India
- Volunteers
- 20 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Gut-Brain Disorders, GERD Without Erosive Esophagitis
Neuroregulators for the Treatment of Diseases Associated With Esophageal-brain-gut Axis Communication Abnormalities.
Gastroesophageal reflux disease (GERD) poses a challenging medical condition to manage, with up to 40% of patients showing refractory to standard medical intervention, which usually begins with a proton pump inhibitor (PPI).
- Trial name
- NCT06778824
- Testing
- Takepron, Zoloft 50Mg Tablet, Imipramine Pill
- Where
- Taiwan
- Volunteers
- 610 people
- Sponsor
- Hualien Tzu Chi General Hospital
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Huntington Disease
A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease
The main goal of this study is to evaluate the safety, tolerability, and preliminary efficacy of SPK-10001 in participants with Huntington's Disease.
- Trial name
- NCT06826612
- Testing
- SPK-10001
- Where
- 5 sites in United States
- Volunteers
- 53 people
- Sponsor
- Hoffmann-La Roche
Tourette Syndrome
Tourette Deep Brain Stimulation (DBS) Target Detection & Suppression
The investigators will implant and monitor 8 research subjects with a subcortical closed-loop system for detection and suppression of tics in subjects with medically refractory debilitating Tourette Syndrome.
- Trial name
- NCT05371041
- Testing
- Medtronic Percept Neurostimulator
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Florida
Spastic Diplegia, Periventricular Leukomalacia
Randomized Controlled Trial of Early Intensive Leg Exercise to Improve Walking in Children With Diplegia
This is a randomized controlled trial, comparing 3 months of intensive leg exercise to standard physiotherapy care for the improvement of gross motor function in young children with spastic diplegia.
- Trial name
- NCT03672877
- Testing
- Intensive exercise
- Where
- 2 sites in Canada
- Volunteers
- 60 people
- Sponsor
- University of Alberta
Huntington Disease
GENERATION HD2. A Study to Evaluate the Safety, Biomarkers, and Efficacy of Tominersen Compared With Placebo in Participants With Prodromal and Early Manifest Huntington's Disease
This study will evaluate the safety, biomarkers, and efficacy of tominersen compared with placebo in participants with prodromal and early manifest Huntington's Disease (HD).
- Trial name
- NCT05686551
- Testing
- Tominersen
- Where
- 70 sites in United States, Argentina and 13 more
- Volunteers
- 301 people
- Sponsor
- Hoffmann-La Roche
Hereditary Hemorrhagic Telangiectasia, HHT
CHORUS - Comprehensive HHT Outcomes Registry of the United States (Formerly OUR HHT Registry)
The goal of this study is to better understand HHT, the symptoms and complications it causes ("outcomes") and how the disease impacts people's lives.
- Conditions
- Hereditary Hemorrhagic Telangiectasia, HHT, Arteriovenous Malformation of Brain
- Trial name
- NCT04150822
- Testing
- Registry and Saliva sample
- Where
- Canada
- Volunteers
- 296 people
- Sponsor
- Unity Health Toronto
Brain Arteriovenous Malformations
In Situ Injection of Anti-angiogenics in Patients With Brain Arteriovenous Malformations Not Eligible for Exclusion Treatment
Brain arteriovenous malformations (bAVMs) are rare aggressive vascular malformations affecting mostly young and healthy adults. The most frequent revealing condition (in almost 50% of cases) is an intra-cerebral hemorrhage, which…
- Trial name
- BLITZ (NCT07075757)
- Testing
- Single in situ intra-arterial injection of bevacizumab
- Where
- 5 sites in France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Neurodevelopmental Disorder With or Without Variable Brain Abnormalities
Personalized Antisense Oligonucleotide for a Single Participant With MAPK8IP3 Neurodevelopmental Disorder With or Without Variable Brain Abnormalities (NEDBA)
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Neurodevelopmental Disorder with or without Brain Abnormalities (NEDBA) due to a heterozygous…
- Trial name
- NCT07197294
- Testing
- nL-MAPK8-001
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Cardiovascular Abnormalities, Arterial Blood Pressure
Multicenter Study on Cardiovascular and Metabolic Complications in Patients With Biochemically Silent Pheochromocytomas and Paragangliomas
The aim of the study is to characterise the cardiovascular and metabolic complications pre- and post-surgery of patients with biochemically negative PPGL and to compare them with normal individuals and patients with secreting…
- Conditions
- Cardiovascular Abnormalities, Arterial Blood Pressure, Heart Rate, Congestive Heart Failure Chronic
- Trial name
- NCT07316075
- Where
- Greece
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Laikο General Hospital, Athens
Fabry Disease
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.
- Trial name
- NCT06906367
- Testing
- migalastat HCl, ERT
- Where
- 8 sites in United States
- Volunteers
- 450 people
- Sponsor
- Amicus Therapeutics
Cerebral Arteriovenous Malformation, Intracranial Arterial Diseases
Cerebral Arteriovenous Malformation With Aneurysm: Epidemiology, Clinical Features, and Prognosis
The study is a multicenter, prospective cohort study designed to assess the natural history, clinical safety and efficacy of various treatment strategies in patients with cerebral arteriovenous malformations (AVMs) and…
- Conditions
- Cerebral Arteriovenous Malformation, Intracranial Arterial Diseases, Intra Cerebral Hemorrhage, Intracranial Aneurysm
- Trial name
- NCT07353736
- Where
- China
- Volunteers
- 630 people
- Sponsor
- Duan Chuanzhi
Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia
Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve…
- Conditions
- Mucopolysaccharidoses, Progressive Pseudorheumatoid Dysplasia, Farber Disease, Osteogenesis Imperfecta
- Trial name
- NCT07173010
- Volunteers
- 35 people
- Sponsor
- Assiut University
Huntington's Disease
HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease
HDClarity will seek at least 2500 research participants at different stages of Huntington's disease (HD). The primary objective is to collect a high quality CSF sample for evaluation of biomarkers and pathways that will enable…
- Trial name
- HDClarity (NCT02855476)
- Where
- 40 sites in United States, Canada and 8 more
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University College, London
Hypothalamic Obesity, Hypothalamic Tumor
Efficacy and Safety of Phentermine/Topiramate in Youth With Hypothalamic Obesity
Hypothalamic obesity (HO) refers to the substantial weight gain that often complicates hypothalamic brain tumors. Children with this treatment-recalcitrant form of obesity have excess rates of metabolic sequelae compared to…
- Conditions
- Hypothalamic Obesity, Hypothalamic Tumor, Craniopharyngioma
- Trial name
- NCT06299891
- Testing
- Phentermine / Topiramate Extended Release Oral Capsule [Qsymia]
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- Seattle Children's Hospital
Tourette Syndrome, Chronic Tic Disorder
Internet-based Behavior Therapy for Adults With Tourette Syndrome
This study protocol outlines a parallel-group, randomized controlled trial (RCT) designed to evaluate the effectiveness of Internet-delivered behavior therapy (BT) based on exposure with response prevention (ERP) for adults with…
- Trial name
- TICNET (NCT06271083)
- Testing
- Exposure with response prevention, Brief psychoeducation with general psychological support
- Where
- Sweden
- Volunteers
- 110 people
- Sponsor
- Karolinska Institutet