Neurodegeneration w/ Brain Iron Accumulation (NBIA) Worldwide, Updated: Nov. 27, 2020; contact John Anastasiadis with any updates to this map, email: anastasiadis77@gmail.com, tel: +1 908 200 5063
Disease States
Clinical Centers & Research Organizations
Pharmaceutical Industry
BPAN (Beta-propeller Protein-associated Neurodegeneration)
PKAN (pantothenate kinase-associated neurodegeneration)
PLAN (PLA2G6-associated neurodegeneration)
MPAN (mitochondrial membrane protein-associated neurodegeneration)
FAHN (Fatty Acid Hydroxylase-associated Neurodegeneration)
CoPAN (COASY Protein-Associated Neurodegeneration)
Woodhouse-Sakati syndrome
Neuroferritinopathy
Aceruloplasminemia
Kufor-Rakeb syndrome
North America
Europe
Oregon Health & Science University
Susan Hayflick, MD & Penny Hogarth, MD
3181 SW Sam Jackson Park Road
Portland, OR 97239, USA
Phone: (+1) 503 494 7703
Email: hayflick@ohsu.edu, hogarthp@ohsu.edu
Website: www.nbiacure.org
👥 International NBIA Patient Registry Clinical Center
BPAN-RETT Project, study to translate basic science discovery gained through laboratory experiments into useful medical practices"
PKAN READY, 5 year study to better understand the natural history of PKAN, how symptoms appear and change over time
PLAN READY, study to better understand the natural history of PLAN, how symptoms appear and change over time
NBIA RATING SCALES, NBIA specific rating scale to measure disease progression
MOUSE MODELS, "knock-out" and "knock-in" are the two main types of transgenic mouse models
PKAN Knock-Out Mice, ❌
PKAN Knock-In Mice :Funded by NBIA Disorders Association and developed by OzGene
BPAN, tissue samples taken June 2016
Other NBIA Transgenic Mice
NBIA Gene Discovery
Brain Iron Metabolism
Communities & Organizations
United Kingdom
North America
Europe
AIDNAI (French), www.aidnai.org
Hoffnungsbaum e.V. (German), http://www.hoffnungsbaum.de
AISNAF (Italian), http://aisnaf.org,* Norton Security thinks this site is a computer threat*
Stichting Ijzersterk (Dutch),* www.stichtingijzersterk.nl
Virtual / International
NBIA Disorders Association, www.nbiadisorders.org
ENACH Asociacion (Spanish), www.enach.org
University College London, Dr Manju Kurian Email: manju.kurian@ucl.ac.uk; Dr Apostolos Papandreou Email: apostolos.papandreou@ucl.ac.uk
PKAN, Best Practices, guidelines on recommendations and instructions for taking care of someone with PKAN
RareConnect, www.rareconnect.org
BPAN
Events
International Symposium on NBIA & Related Disorders
Biennial International NBIA Disorders Association Family Conference
Italy
The Foundation of the Carlo Besta Neurological Institute, IRCCS
Nardo Nardocci
Via Celoria 11
20133 Milano, Italy
Phone: (+39) 02 2394 2210
Email: nardo.nardocci@istituto-besta.it
Website: http://www.istituto-besta.com/
👥 International NBIA Patient Registry Clinical Center
NBIA Suisse (Swiss), Fatemeh Mollet, Email: Nbiasuisse@gmail.com
Germany
Institute of Human Genetics at the Technical University Munich (TUM) , Dr. Holger Prokisch, Email: prokisch@helmholtz-muenchen.de Tel: +49 89 3187-2890
PLAN gene therapy
Retrophin, Inc., USA
NBIA Alliance, www.nbiaalliance.org
NBIA Canada, www.nbiacanada.com
Post TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration)
AciesBio, Slovenia
MPAN research
Klinikum der Universität München
Friedrich-Baur-Institute at the Department of Neurology
Prof. Thomas Klopstock & Dr. Ivan Karin
Ziemssenstr. 1a
80336 Munich, Germany
Phone: (+49) 089-44005-7421
Email: tircon@med.uni-muenchen.de
Website: http://www.baur-institut.de/
👥 International NBIA Patient Registry Clinical Center
PKAN research
Poland
Instytut Pomnik Centrum Zdrowia Dziecka
Klinika Neurologii i Epileptologii
Dr. Tomasz Kmiec
Aleja Dzieci Polskich 20
04730 Warsaw, Poland
Phone: (+48) 22 815 7797
Email: t.kmiec@czd.pl
Website: http://www.czd.pl/
👥 International NBIA Patient Registry Clinical Center
BPAN cell research
University of Newcastle upon Tyne
The Medical School
Mitochondrial Research Group
Prof. Rita Hovarth and Dr. Hannah Steele
NE2 4HH, Newcastle upon Tyne, UK
Website: http://www.ncl.ac.uk/biomedicine/
👥 International NBIA Patient Registry Clinical Center
UCSF Benioff Children’s Hospital Oakland
Elliott Vichinsky, MD
747 52nd Street
Oakland, CA 94609, USA
Phone: (+1) 510 612-6202
Email: evichinsky@mail.cho.org
Website: http://www.childrenshospitaloakland.org/
👥 International NBIA Patient Registry Clinical Center
Czech Republic
Neurologická klinika Všeobecné fakultní nemocnice a 1.lékařské fakulty Univerzity Karlovy
MU Dr. Petr Dušek Ph.D.
Kateřinská 30
120 00 Praha 2, Czech Republic
Phone: (+42)0 22496 5528
Email: pdusek@gmail.com
👤 International NBIA Patient Registry Associated Clinical Center
Hungary
Department of Neurology, University of Pécs
Dr. Peter Acs, MD, PhD
Neurologist
Rét u. 2., 7623. Pécs, Hungary
Phone: (+36) 072-536-000 / 37624
Email: acs.peter@pte.hu
👤 International NBIA Patient Registry Associated Clinical Center
University of Pecs and Markusovszky University Teaching Hospital
Prof. Dr. Bernadette Kalman, MD, PhD, DSc.
Neurologist, Head of Molecular Pathology
Markusovszky u. 5. 9700. Szombathely
Phone(+ 36) 094-515-624
Email: bernadett.kalman@etk.pte.hu; kalman.bernadett@markusovszky.hu
👤 International NBIA Patient Registry Associated Clinical Center
Semmelweis University
Institute of Genomic Medicine and Rare Disorders
Prof. Dr. Maria Judit Molnar
Tömö u. 25-29
1083 Budapest, Hungary
Phone: (+36) 01459 1492
E-mail: molnarmj@gmail.com
👤 International NBIA Patient Registry Associated Clinical Center
Spain
Hospital Sant Joan de Déu, Universitat de Barcelona
Servei de Neurología
Dr. Belen Perez Duenas & Dr. Alejandra Darling
Passeig de Sant Joan de Deu 2
08950 Esplugues de Llobregat, Barcelona, Spain
Phone: (+34) 0932804000
E-mail: bperez@hsjdbcn.org; adarling@hsjdbcn.org
👤 International NBIA Patient Registry Associated Clinical Center
Washington University - St. Louis
Paul T Kotzbauer, MD, PhD
kotzbauerp@neuro.wustl.edu
Phone: (314) 362-7165
Department of Neurology Administrative Office
Campus Box 8111
660 S. Euclid Ave
St. Louis, MO 63110
St. Jude Children's Research Hospital
Suzanne Jackowski, PhD
Infectious Diseases
MS 320, Room E8051
St. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis, TN 38105-3678
Email: suzanne.jackowski@stjude.org
Phone: (901) 595-3494
Netherlands
University of Groningen Medical Center
Ody Sibon, Ph.D.
Email: o.c.m.sibon@umcg.nl
ApoPharma Inc, USA (involved in deferiprone trial)
PLAN natural history study
Helmholtz Zentrum München, Dr. Ana Messias, Email: ana.messias@helmholtz-muenchen.de Tel. +49 89 3187-4706
MPAN research
San Raffaele Scientific Institute, Milano Dr. Sonia Levi, Email: levi.sonia@hsr.it
PKAN research
Neuroferritinopathy research
NBIA-PKAN, PLAN, NKAN, MPAN
NBIA Families, UK
NBIA Families, Australia
Umbrella Groups for rare disorders
NORD - National Organization for Rare Diseases, https://rarediseases.org
Eurordis
Global Genes
Genetic Alliance
Middle East
Iran
BPAN mouse model
International NBIA Biobank ; Dr. Arcangela Iuso; Email: arcangela.iuso@helmholtz-muenchen.de Tel: +49 89 3187-2495
International NBIA Patient Registry ; Dr. Thomas Klopstock, Email: thomas.klopstock@med.uni-muenchen.de; Dr. Doriana Buechner, Tel: 089/4400-57421 Email: boriana.buechner@med.uni-muenchen.de
University of Teheran, Department of Molecular Biology and Genetics, Professor Dr. Elahe Elahi, elahe.elahi@gmail.com
University Faculty of Medicine
Dr. Mohammad Rohani
mohammadroohani@gmail.com
Prof. Gholamali Shahidi, gholamali.shahidi@gmail.com
NBIA Suisse
Universidad Pablo de Olavide
Centro Andaluz De Biología del Desarrollo-CSIC
Grupo de Fisiopatología Celular en la Enfermedad y el DesarrolloLaboratorio 210
Dr. José A. Sánchez Alcázar
jasanalc@upo.es
Carretera de Utrera Km 1
41013 Sevilla, Spain
telephone: 954978071
954978019
954349381
PKAN, experimental treatment on 3 PKAN patients
PLAN, "treatment for PLAN patients coming soon."
MPAN
Aceruloplasminemia
IBiS /HOSPITAL UNIVERSITARIO VIRGEN DEL ROCIO
Dr. Pablo Mir and Dr. Marcos Madruga
pmir@us.es and mmadruga@us.es
Avda. Manuel Siurot, s/n.
41013 · Sevilla
+34 955 923 000
They are neurologists and researchers in very narrow cooperation with the Universidad Pablo de Olavide.
This institution is in charge of transferring the knowledge from the laboratory to the patients
PKAN Families
NBIA Families and Supporters
NBIA Disorders Association
Asia
China
Institute of Biophysics, Chinese Academy of Sciences
Hong Zhang, Ph.D, Prof., Principal Investigator
National Laboratory of Biomacromolecules, IBP
Mechanism and regulation of autophagy in multicellular organisms, email: hongzhang@sun5.ibp.ac.cn
Tel：010-64848238
BPAN Wdr45 knockout mice
ENACH Asociación
Switzerland
CHUV (Cantonal hôpital universitaire Vaud)
Dr. Diana Ballhausen, neuropediatrie département (has three PKAN patients)
diana.ballhausen@chuv.ch
Inselspital Bern
Universitatskinderspital Zurich
Basler Kenderspital
Hospital Universitaire HUG Geneve
Peking University First Hospital Beijing
Ye Wu M.D.
Department of Pediatrics
Cambridge University
MRC Mitochondrial Biology Unit
Wellcome Trust / MRC Building
Cambridge Biomedical Campus
Hills Road, Cambridge CB2 0XY
Prof. Patrick Chinnery pfc25@medschl.cam.ac.uk
Neuroferritinopathy research
Idiopathic
MePAN
Cyprus
The Cyprus Institute of Neurology and Genetics
Neurology and Clinical Genetics Clinics
Nicosia, CYPRUS
+357-22358600
Dr. Kleopas A. Kleopa and Dr. George Tanteles
kleopa@cing.ac.cy
PKAN
Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN
University of Pennsylvania
BPAN READY, Study to better understand the natural history of BPAN, how symptoms appear and change over time
TM3 Therapeutics B.V., Leiden Netherlands (developed PKAN therapy)
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Unit U703, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
Casma Therapeutics, USA (focused on autophagy) www.casmatx.com
BPAN Warriors, www.bpanwarriors.org
Autour du BPAN, www.autourdubpan.fr
Kaan vor PKAN
Don't Forget Morgan, www.dontforgetmorgan.org
NBIA Australia
BridgeBio, USA
Boston Children's