Clinical trials: Brain Malformation
Telangiectasia, Hereditary Hemorrhagic
Studies of Hereditary Hemorrhagic Telangiectasia
OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations. II.
- Trial name
- NCT00004648
- Volunteers
- 65 people
- Sponsor
- National Center for Research Resources (NCRR)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Phenylketonuria (PKU)
Safety and Efficacy of Self Administered Injections of Pegvaliase (>40mg/Day Dose) in Adults With PKU
This is a Phase 3 open-label extension study enrolling adult patients with PKU who were previously treated with pegvaliase in Studies PAL-003 (NCT00924703) or 165-302 (NCT02468570).
- Trial name
- NCT03694353
- Testing
- Pegvaliase
- Where
- 17 sites in United States
- Volunteers
- 37 people
- Sponsor
- BioMarin Pharmaceutical
Gaucher Disease Type 1
Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease
Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration…
- Trial name
- NCT04055831
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Cerebral Small Vessel Disease
Neural Correlates (EEG and fMRI) of Gait in Small Vessel Disease
What is the purpose of this study? This observational study is being done to understand how cerebral small vessel disease (SVD) affects walking and balance.
- Trial name
- doesn't exist (NCT07372937)
- Testing
- No Intervention: Observational
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Fabry's Disease, Pregnancy
Fabry's Disease and Pregnancy (PREFAB)
Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease…
- Trial name
- PREFAB (NCT02582294)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Groupe Hospitalier Diaconesses Croix Saint-Simon
Stroke/Brain Attack
Physiological and Functional Effects of Percutaneous Neuromodulation vs Transcutaneous Neuromodulation
INTRODUCTION: Clubfoot, drop foot or clubfoot, is a disorder that prevents reaching 100º of dorsiflexion actively. Its etiology is varied, and may be due to congenital problems, direct alteration of the bone structure, spasticity…
- Trial name
- NCT06365931
- Testing
- Percutaneous neuromodulation, Transcutaneous neuromodulation, Percutaneous neuromodulation or Transcutaneous neuromodulation (optional)
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- University of Extremadura
Hepatolenticular Degeneration; Wilson
Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson's Disease
In earlier studies, it was found that patients of Wilson disease with new diagnosed who only has neurological symptoms often had DWI hyper-intensity in brain MRI, which was more common in putamen and midbrain, indicating that the…
- Trial name
- NCT06196931
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Hospital Affiliated to the Institute of Neurology, Anhui University of Chinese Medicine
Huntington Disease
Open-label Extension Study to Evaluate the Safety and Tolerability of WVE-120102 in Patients With Huntington's Disease
WVE-HDSNP2-002 is an open-label extension (OLE) study to evaluate the safety, tolerability, PK, PD, and clinical effects of WVE-120102 in adult patients with early manifest HD who carry a targeted single nucleotide polymorphism…
- Trial name
- NCT04617860
- Testing
- WVE-120102
- Where
- 20 sites in Australia, Canada and 5 more
- Volunteers
- 36 people
- Sponsor
- Wave Life Sciences USA, Inc.
Intellectual Disability, Epilepsy
MEHMO Natural History and Biomarkers
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have…
- Conditions
- Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly
- Trial name
- NCT06019182
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Brain Arteriovenous Malformations
Study Comparing Onyx and TRUFILL in Brain Arteriovenous Malformations (AVMs)
Test whether AVMs treated with Onyx is equivalent to treatment with n-BCA. Success is defined as an AVM size reduction greater than 50%
- Trial name
- NCT00857662
- Testing
- Onyx, TRUFILL
- Where
- United States
- Volunteers
- 117 people
- Sponsor
- Medtronic Neurovascular Clinical Affairs
Niemann-Pick Disease, Type C1
Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1
A prospective, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 3 and older with confirmed diagnosis of Niemann Pick disease type C1 (NPC1).
- Trial name
- TransportNPC (NCT04860960)
- Testing
- Hydroxypropyl-beta-cyclodextrin
- Where
- 35 sites in United States, Argentina and 11 more
- Volunteers
- 94 people
- Sponsor
- Cyclo Therapeutics, Inc.
Tyrosinemias, Alkaptonuria
Evaluation of TYR Sphere
For 28 days, 20 patients with tyrosinaemia will take TYR sphere as part of the usual dietary management of their condition. Patients will record their adherence to recommended intakes each day, gastrointestinal symptoms (if any)…
- Conditions
- Tyrosinemias, Alkaptonuria, Tyrosinemia, Type I, Tyrosinemia, Type II
- Trial name
- NCT04196959
- Testing
- TYR sphere
- Where
- 2 sites in United Kingdom
- Volunteers
- 18 people
- Sponsor
- Vitaflo International, Ltd
Muscular Dystrophies, Spinal Muscular Atrophy
Schulze Muscular Dystrophy Ability Clinical Study
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home…
- Conditions
- Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT05409079
- Testing
- Abilitech Assist
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- AbiliTech Medical Inc.
Fabry Disease, Proteinuria
The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study
The primary hypothesis is that titration of ACE inhibitor and Angiotensin Receptor Blockers (ARBs)to reduce urine protein excretion to < 500 mg per day in Fabry Patients receiving agalsidase beta therapy at 1 mg/kg every two…
- Trial name
- FAACET (NCT00446862)
- Testing
- enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
- Where
- 6 sites in United States, Slovenia
- Volunteers
- 36 people
- Sponsor
- University of Alabama at Birmingham
Dementia, Neurodegenerative Diseases
Retinal Hyperspectral Imaging in Neurodegenerative Diseases
Hyperspectral retinal imaging is a non-invasive imaging modality in which a series of images of the retina are captured using light of different wavelengths.
- Conditions
- Dementia, Neurodegenerative Diseases, Alzheimer Disease, Parkinson Disease
- Trial name
- NCT07545473
- Testing
- Hyperspectral camera
- Where
- Australia
- Volunteers
- 930 people, healthy volunteers welcome
- Sponsor
- Center for Eye Research Australia
Rett Syndrome, Dysbiosis
Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT)
The study will examine the potential efficacy and safety of two pre- and post-biotics on markers for gut inflammation and intestinal microbiota ecology in patients with Rett syndrome.
- Conditions
- Rett Syndrome, Dysbiosis, Epilepsy, Quality of Life
- Trial name
- Biotics_RTT (NCT05420805)
- Testing
- ALAC, inulin, FOS, and sodium butyrate, Sodium butyrate and zinc oxide
- Where
- Italy
- Volunteers
- 28 people
- Sponsor
- Azienda Ospedaliera Universitaria Senese
Urea Cycle Disorder
Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
This is a randomized, controlled, open-label parallel arm study to assess the safety, tolerability, pharmacokinetics and ammonia control, of RAVICTI® as compared to Sodium phenylbutyrate (NaPBA) in urea cycle disorder subjects…
- Trial name
- NCT03335488
- Testing
- RAVICTI, NaPBA
- Where
- 11 sites in United States, Italy and 2 more
- Volunteers
- 16 people
- Sponsor
- Amgen
Hemangioma, Cavernous, Central Nervous System
Study on Treatment Decision-Making and Prognostic Follow-Up for Untreated Cerebral Cavernous Malformations
The goal of this observational study is to evaluate and predict the risk associated with cerebral cavernous malformations (CCMs) using advanced artificial intelligence and radiomics analysis technology.
- Trial name
- NCT06214767
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- Beijing Tiantan Hospital
Huntington's Disease
FuRST 2.0 Cognitive Pre-Testing
The FuRST 2.0 scale is being developed as a Patient Reported Outcome (PRO) with information coming directly from the Huntington's Disease Gene Expansion Carrier (HDGEC) and companion through self-report.
- Trial name
- NCT02881931
- Testing
- FuRST 2.0
- Where
- 4 sites in United States, Canada
- Volunteers
- 75 people
- Sponsor
- CHDI Foundation, Inc.