Clinical trials: Neurodegeneration With Brain Iron Accumulation (NBIA)
Neurodegeneration With Brain Iron Accumulation (NBIA)
Testing of NBIA Genes: Analysis of Genetic Heterogeneity and Validation of Mitochondrial Markers for Assessing Causality of Sequence Variants.
Neurodegeneration with brain iron accumulation (NBIA) represent a group of rare neurodevelopmental diseases, genetically as well as phenotypically heterogeneous. The diagnosis is based on brain MRI.
- Trial name
- NBIA MITO (NCT05615571)
- Testing
- Establishment of mitochondrial markers, Sequencing tests
- Where
- France
- Volunteers
- 70 people
- Sponsor
- University Hospital, Bordeaux
Pantothenate Kinase-Associated Neurodegeneration
Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
Patients with PKAN will be treated with the iron chelator deferiprone for 18 months. Only patients who have completed the earlier study TIRCON2012V1 (NCT01741532), a double-blind placebo-controlled trial in which participants…
- Trial name
- TIRCON-EXT (NCT02174848)
- Testing
- Deferiprone oral solution
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 68 people
- Sponsor
- ApoPharma
Pantothenate Kinase-Associated Neurodegeneration
CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
The purpose of this study is to learn more about how people with the condition pantothenate kinase-associated neurodegeneration (PKAN) respond to a specialized study product.
- Trial name
- NCT04182763
- Testing
- CoA-Z
- Where
- United States
- Volunteers
- 77 people
- Sponsor
- Oregon Health and Science University
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Neurodegenerative Diseases, Parkinson Disease
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal…
- Conditions
- Neurodegenerative Diseases, Parkinson Disease, Synucleinopathies, Lewy Body Disease
- Trial name
- MARKERS-NDD (NCT06596746)
- Testing
- Observation
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- Casa di Cura San Raffaele Cassino
Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders
Brain Iron in Beta-Propeller Protein Associated Neurodegeneration (BPAN)
This study aims to quantify intracerebral iron load in patients with Beta-Propeller Protein-Associated Neurodegeneration (BPAN) using Quantitative Susceptibility Mapping (QSM) technique.
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Iron Metabolism Disorders, Brain Disease
- Trial name
- QUBIPAN (NCT07868120)
- Testing
- Standardized brain MRI including specific sequences usable for Quantitative Susceptibility Mapping (QSM)
- Where
- France
- Volunteers
- 3 people
- Sponsor
- University Hospital, Bordeaux
Neurodegeneration With Brain Iron Accumulation (NBIA)
NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN)…
- Trial name
- NCT02587858
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Susan J. Hayflick
Pantothenate Kinase-associated Neurodegeneration (PKAN)
Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
The purpose of this study is to learn whether blood flow in the brain is normal in people with pantothenate kinase-associated neurodegeneration (PKAN).
- Trial name
- NCT01838018
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Susan J. Hayflick
Neurodegenerative Disease, Iron Overload
Ferrochelating Treatment in Patients Affected by Neurodegeneration With Brain Iron Accumulation (NBIA)
This trial is a multicenter, unblinded, single-arm pilot study, lasting one year (plus one year extension Amendment n.3 25 August 2009, plus two years follow-up Amendment n.7) , to evaluate the efficacy and safety of the chelator…
- Trial name
- NCT00907283
- Testing
- Deferiprone
- Where
- 3 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Ente Ospedaliero Ospedali Galliera
Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN)
TIRCON International NBIA Registry
TIRCON-reg aims to continue the provision of a global registry and natural history study for NBIA disorders harmonize and cover existing national and single site registries enable participation of countries and single sites that…
- Conditions
- Neurodegeneration With Brain Iron Accumulation (NBIA), Pantothenate Kinase-associated Neurodegeneration (PKAN), Beta-Propeller Protein-Associated Neurodegeneration (BPAN), Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)
- Trial name
- TIRCON (NCT05522374)
- Where
- 9 sites in Canada, Czechia and 6 more
- Volunteers
- 2,000 people
- Sponsor
- LMU Klinikum
Pantothenate Kinase-Associated Neurodegeneration
Compassionate Use of Deferiprone in Patients With PKAN
Patients with pantothenate kinase-associated neurodegeneration (PKAN) who have completed the ApoPharma-sponsored study TIRCON2012V1-EXT and who wish to continue to take deferiprone will be offered the opportunity to receive it on…
- Trial name
- NCT02635841
- Testing
- Deferiprone
- Sponsor
- Chiesi Canada Corp
Pantothenate Kinase-Associated Neurodegeneration
Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
A multi-center, placebo controlled, double-blind trial comparing the efficacy and safety of 18 months of treatment with deferiprone versus placebo in patients with PKAN.
- Trial name
- NCT01741532
- Testing
- Deferiprone oral solution
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 89 people
- Sponsor
- ApoPharma