Wednesday, Sept 30 - Saturday, Oct. 3, 2020

Times: 7 – 11:20 am (PDT) / 16 – 20.20 h (CEST) – daily end times may vary slightly

 

Day 1: Wednesday, Sept. 30, 2020 – PKAN / CoPAN

Time

Speaker/s

Topics

16:00

Thomas Klopstock & Patricia Wood

Welcome & Introduction of Patient Representative

PKAN Part 1 - Moderator: Suzanne Jackowski

16:10

Susan Hayflick / Suh Young Jeong

PKAN pathogenesis and treatment

16:30

Ivan Karin

Phenotype and natural history – the TIRCON cohort

16:40

Allison Gregory

Phenotype and natural history – the OHSU collaborative cohort and PKANready

16:50

Penny Hogarth

Update on the CoA-Z clinical trial

17:10

Ody Sibon

CoA pathomechansims and overlap to other disorders

17:30

Thomas Klopstock

Things to learn from the completed Deferiprone and Fosmetpantotenate trials

17:50

Suzanne Jackowski

A novel scientific approach - pantazines

18:10

Short Break

PKAN Part 2 and CoPAN – Moderator: Susan Hayflick

18:20

Susan Hayflick

Status of PKAN gene therapy

18:30

Ivan Gout

Protein CoAlation and antioxidant function of coenzyme A in neurodegeneration

18:45

Ivano DiMeo

A new mouse model for CoPan

19:00

Giovanna Zorzi

CoPan: Clinical aspects

19:20

ALL

Roundtable discussion on urgent needs and next steps in PKAN/CoPAN

20: 20

End of Day 1

 

 


 

Day 2: Thursday, Oct. 1, 2020 – General Mechanisms / BPAN

Time

Speaker/s

Topics

16:00

Thomas Klopstock & Markus Nielbock

Welcome & Introduction of Patient Representative

GENERAL MECHANISMS – Moderator: Agnès Rötig

16:10

Sonia Levi

Brain iron metabolism: implication for aging and neurodegeneration

16:30

Agnès Rötig

Abnormal regulation of transferrin receptor in NBIA

16:50

Randy Woltjer

Insights from pathology of the NBIA Disorders

17:10

Short Break

BPAN – Moderator: Arcangela Iuso

17:20

Tassula Proikas-Cezanne

Molecular function of WDR45/WIPI4 in autophagy

17:40

Robin Ketteler

Small molecule compound screening in iPSC-derived neurons from BPAN patients

18:00

Mario Mauthe

Autophagy involvement in BPAN

18:20

Puneet Rai

Natural history of BPAN and BPANready

18:40

Hong Zhang

BPAN mouse model

19:00

Bertrand Mollereau

Drosophila model of BPAN

19:20

ALL

Roundtable discussion on urgent needs and next steps in BPAN

20:20

End of Day 2

 

 


 

Day 3: Friday, Oct. 2, 2020 - MPAN

Time

Speaker/s

Topics

16:00

Thomas Klopstock & Maciej Cwyl

Welcome & Introduction of Patient Representative

MPAN Part 1 – Moderator: Susanne Schneider

16:10

Arcangela Iuso

MPAN: from basic mechanism to a potential therapeutic approach

16:30

Ana Messias

Using structural biology to dissect the molecular mechanisms underlying MPAN

16:50

Susan Hayflick

Autosomal Dominant MPAN

17:10

Tomasz Kmiec

Clinical features of MPAN

17::30

Marta Skowronska

The MPAN Scale

17:50

Susanne Schneider

MPAN Natural History

18:10

Short Break

MPAN Part 2 – Moderator: Valeria Tiranti

18:20

Miguel Sena Esteves

Gene Therapy for MPAN

18:40

Lorenz Studer

Stem cell-based approaches

19:00

Susanne Schneider

About trial readiness: What do we need before for a successful clinical trial in MPAN?

19:15

Olav Zilian

MPAN-day: Summary and outlook

19:20

ALL

Roundtable discussion on urgent needs and next steps in MPAN

20:20

End of Day 3

 

 


 

Day 4: Saturday Oct. 3, 2020 – PLAN and FAHN

Time

Speaker/s

Topics

16:00

Thomas Klopstock & Michelle Sheppard-Whalen

Welcome & Introduction of Patient Representative

PLAN / INAD and FAHN – Moderator: Manju Kurian

16:10

Ahad Rahim

Gene therapy in a mouse model of INAD

16:30

Manju Kurian

Preparing a clinical gene therapy trial in INAD – state of the art

16:50

Paul Kotzbauer

Therapeutic Approaches to Restore PLA2G6 Enzyme Function in INAD

17:10

Alexander Fay

Development and Progress of a Treatment Trial for Infantile Neuroaxonal Dystrophy with RT001

17:30

Allison Gregory

Natural history of PLAN and PLANready

17:40

Sunita Venkateswaran

The natural history of FAHN - clinical and MRI findings; Exploring next steps in FAHN using lipidomics and animal models

18:15

ALL

Roundtable discussion on urgent needs and next steps in PLAN/FAHN

19:15

Fatemeh Mollet

Farewell and Outlook to 2021 Symposium

19:20

End of day 4