Clinical trials: Brain Malformation
- Condition Brain Malformation
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Unverricht-Lundborg Disease
Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults
The study will compare the efficacy and safety of brivaracetam with placebo in patients with Unverricht-Lundborg disease.
- Trial name
- NCT00357669
- Testing
- Brivaracetam 25 mg, Brivaracetam 50 mg
- Where
- 13 sites in Finland, France and 5 more
- Volunteers
- 50 people
- Sponsor
- UCB Pharma SA
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Epilepsy, Dravet Syndrome
An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Adults With Dravet or Lennox-Gastaut Syndromes
To investigate the potential antiepileptic effects of cannabidiol (GWP42003-P) in children and adults with Dravet or Lennox-Gastaut syndromes.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- GWPCARE5 (NCT02224573)
- Testing
- GWP42003-P
- Volunteers
- 681 people
- Sponsor
- GW Research Ltd
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by deficient activity of the enzyme acid β-glucosidase, causing glucosylceramide to accumulate within macrophages and leading to hepatosplenomegaly, anemia…
- Trial name
- NCT05447494
- Testing
- Low-dose CAN103, High-dose CAN103
- Where
- China
- Volunteers
- 40 people
- Sponsor
- CANbridge (Suzhou) Bio-pharma Co., Ltd.
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
Phenylketonuria (PKU)
PKU EASY Microtabs Plus - Acceptability and Tolerance
PEMP-AT is a prospective, single-arm, open-label, 1-week acceptability study to evaluate PKU EASY Microtabs Plus for the dietary management of participants with phenylketonuria (PKU).
- Trial name
- PEMP-AT (NCT06694662)
- Testing
- PKU EASY Microtabs Plus
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Galen Limited
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Cerebral Adrenoleukodystrophy (CALD)
A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
This trial assessed the efficacy and safety of autologous cluster of differentiation 34 (CD34+) hematopoietic stem cells, transduced ex-vivo with Lenti-D lentiviral vector (also called elivaldogene autotemcel or eli-cel), for the…
- Trial name
- NCT01896102
- Testing
- Lenti-D Drug Product (eli-cel)
- Where
- 8 sites in United States, Argentina and 4 more
- Volunteers
- 32 people
- Sponsor
- Genetix Biotherapeutics Inc.
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3
Multicenter, doubleblinded, randomized placebo-controlled study of arimoclomol in patients with Gaucher Disease Type 1 or 3
- Trial name
- NCT03746587
- Testing
- Arimoclomol
- Where
- 8 sites in India
- Volunteers
- 39 people
- Sponsor
- ZevraDenmark
Tourette Syndrome
Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette's Syndrome
This study is a multicenter, randomized, double-blind, placebo-controlled trial designed to assess the safety, efficacy, tolerability and steady-state plasma trough concentration of flexible-dosed aripiprazole once-daily…
- Trial name
- NCT03487783
- Testing
- Aripiprazole Oral Solution
- Where
- China
- Volunteers
- 121 people
- Sponsor
- Otsuka Beijing Research Institute
Phenylketonurias, PKU
Evaluation of PKU Sphere in Italy
20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so.
- Trial name
- NCT04679467
- Testing
- PKU sphere
- Where
- 4 sites in Italy
- Volunteers
- 13 people
- Sponsor
- Vitaflo International, Ltd
Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency
Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
Kuvan® is a synthetic copy of a body's own substance called tetrahydrobiopterin (BH4). BH4 is required by the body to use an amino acid called phenylalanine in order to build another substance called tyrosine.
- Trial name
- KAMPER (NCT01016392)
- Where
- 69 sites in Austria, France and 7 more
- Volunteers
- 627 people
- Sponsor
- BioMarin Pharmaceutical
Pompe Disease
Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease
This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.
- Trial name
- NCT03865836
- Testing
- ATB200, AT2221
- Sponsor
- Amicus Therapeutics
Infantile Globoid Cell Leukodystrophy
The Natural History of Infantile Globoid Cell Leukodystrophy
The purpose of this natural history study is to understand more about the progression of infantile Krabbe disease, a very rare genetic disease. There is very little published longitudinal data with only anecdotal cases.
- Trial name
- NCT00983879
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Zymenex A/S
Niemann-Pick Diseases
Induced Pluripotent Stem Cells for Niemann Pick Disease
Establishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
- Trial name
- IPSNPABC (NCT03883750)
- Where
- Pakistan
- Volunteers
- 40 people
- Sponsor
- CENTOGENE GmbH Rostock
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Lennox-Gastaut Syndrome
A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304)
To confirm that the combination therapy of rufinamide has superior efficacy compared to placebo in patients with Lennox-Gastaut syndrome.
- Trial name
- NCT01146951
- Testing
- Rufinamide (E2080)
- Where
- 23 sites in Japan
- Volunteers
- 66 people
- Sponsor
- Eisai Limited