program at
a glance

Please click on the buttons to see the programme of the different participant groups.

International Network Meeting –
for MPS Delegates only

Wednesday, April 03, 2024

You find the programme of the different days by clicking the buttons.

For MPS Delegates only

International Network Meeting

09:00 - 12:00  
For MPS Delegates only

International Network Meeting

03:00 - 05:30 pm
Opening ceremony

Opening presentation: “Auf Augenhöhe – On Eye Level”

Ali Mahlodji, Fredi Wiesbauer, Carmen Kunkel, Michaela Weigl, Eva Luise Köhler, Florian Lagler, Marianne Rohrbach, Nicole Muschol, Christina Lampe

“Auf Augenhöhe - On Eye Level” Communication on an equal footing
Panel Discussion

Jibreel Arshad, Jenny Klein, Julie Eisengart, Elke Schubert Hjalmarsson, Georg Schetter, Florian Lagler

05:30 - 08:00 pm

Get-together at the exhibition

07:30 - 09:30 pm

Biomarin Patients Workshop

08:00 - 09:30 pm
CHAMPS live webinar "at eye level"
Please note that this part of the programme will be held in German and not translated into English.

Title: Interdisciplinary diagnostics for rare diseases in Germany, Austria and Switzerland
Status, experiences, differences, future


Organiser:
- CME-Verlag - Fachverlag für medizinische Fortbildung GmbH
- hk-kommunikation.de

on behalf of:
- Society for Mucopolysaccharidoses Germany
- Society for Mucopolysaccharidoses Austria
- Society for Mucopolysaccharidoses Switzerland

Topic of the event:
- Interdisciplinary co-operation in diagnosis > where can we (the doctors) improve?
- Suspicion parents (something is wrong here) > do we take the parents seriously enough?
- Doctor (listening at eye level) > Do we listen to the patient/parents?
- What is the situation at country level with interdisciplinary co-operation (e.g. England, Spain or America)?

Management:
- Moderation: Kristina Hentschel
- Head physician: Dr Christina Lampe
- Chair of MPS Austria/Germany/Switzerland: A representative of the patient organisations.
- Scientific management of the congress: Florian B. Lagler, Christina Lampe, Nicole Maria Muschol, Marianne Rohrbach

Congress sponsors/supporters/supporters:
• Chiesi
• Sanofi-Aventis Deutschland GmbH
• Ultragenyx Pharmaceutical Inc.

07:15 – 08:30 am
Breakfast Symposium – registration will be offered via congress app

Breakfast Symposium sponsored by SANOFI

Journey through the MPS I history: a story of commitment and lessons learned
Maurizio Scarpa
Christina Lampe

08:45 – 10:15 am
Clinical Management
Chair: Maurizio Scarpa & Bob Stevens

Expanding outcomes beyond cognition in MPS

Julie Eisengart

One size does not fit all' -- Distangeling Sleep Disturbances & Disorders in Rare Diseases

Osman Ipsiroglu

Benefit and Limitations of Personalized Medicine

Suzanne McDonald

10:15 – 10:45 am

Coffee break

Additional workshop for parents of affected persons
10:45 – 12:00 pm

Workshop 1
How mindfulness can help parents/carers

Claire Garthwaite

10:45 – 12:15
Clinical research
Chairs: Barbara Plecko & Hanka Dekker

Neurosurgery in MPS and related diseases

Philip Kunkel

Airway disease and management in MPS

Joe Muenzer

Novel approaches to tracheal stenosis in MPSIVA

Iain Bruce

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Umut Akyol

12:15 – 02:00 pm

Lunch

12:30 – 01:45 pm
Lunch Symposium – registration will be offered via congress app

Takeda Lunch Symposium sponsored by TAKEDA
Neurocognitive Aspects of MPS II: From Developmental Assessment to Emerging Therapies

1. Dr. Christina Lampe: MPS II Disease Burden and Neuronopathic Manifestation
2. Dr. Hannerieke van den Hout: Neuropsychological and Behavioral Assessment of Patients with MPS II
3. Dr. Nicole Muschol: Emerging Therapies in MPS II

02:00 – 03:30 pm
Transition, Development and Challenges
Chairs: Mireia del Toro & Jordi Cruz

Transition and empowerment of patients with Lysosomal Storage Diseases

Karolina Stepien

Aging with MPS: physical aspects

John Mitchell

Aging with MPS: psychosocial aspects

Zsuzsanna Almassy

Quality of life in children and adolescents with chronic metabolic diseases

Daniela Pertl

Additional workshop for affected persons
02:00 – 06:00 pm

Workshop 2
“Simulation Workshop”

Florian Lagler

03:30 – 04:00 pm

Coffee break

04:00 – 06:00 pm
Diagnostic and Treatment Updates
Chairs: Joe Muenzer & Virginia Tsai   

Establishing consensus-based clinical care guidelines for Sanfilippo syndrome

Cara O’Neill

Overview on gene therapy in lysosomal disease

Simon Jones

Treatment of Alpha-Mannosidosis

Julia Hennermann

In utero enzyme replacement therapy for lysosomal storage disorders - interim results

Paul Harmatz

06:00 – 08:00 pm

Remembrance ceremony

08:45 – 10:15 am
Study Updates – Late Breaking News
Chair: Brian Bigger

An AAV Based Clinical Trial for Mucopolysaccharidosis IVA; 2022-BGTC-005

Shunji Tomatsu

AVP6, a promising small molecule therapy for Sanfilippo disease.

Patricia Dubot

Campsite™ Phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II).

Roberto Giugliani

Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brainpenetrant enzyme replacement therapy) in Mucopolysaccharidosis Type II

Joseph Muenzer

08:45 – 10:15 am
Additional workshop for affected persons

Workshop 3
“Important Aspects on Physiotherapy: The Hands (Carpal tunnel, contractures)”

Christine Wurlitzer

10:15 – 10:45 am

Coffee break

10:45 – 12:15  
Understanding new study approaches
Chairs: Marianne Rohrbach & Veronika Hübinette                              

New therapeutical approaches in MPS

Maurizio Scarpa

Overview on gene therapy in lysosomal diseases

Alex Broomfield

Repurposing of approved drugs

Anna Maria Wiesinger

Discussion

10:45 am - 12:15 pm
Additional workshop for affected persons

Workshop 4
“Important Aspects on Physiotherapy: Immobility and its Consequences”

Christine Wurlitzer

Workshop 5
"Mindfulness for pain and long-term conditions"

Claire Garthwaite

12:15 – 01:45 pm

Lunch

12:30 – 01:30 pm
LUNCH SYMPOSIUM
Registration will be offered via congress app

Lunch Symposium sponsored by BIOMARIN

Conversations to improve the identification and management of non-classical MPS:
a patient, an orthopaedic surgeon and an MPS specialist

Christina Lampe, Annalena Schulz, Lothar Seefried

01:45 – 03:15 pm
Anesthesia and Skeletal Disease Manifestations
Chairs Christina Lampe & Zoltan Ujfalusi

Anesthesia in MPS/ML and related diseases

Thorsten Dohrmann

The MPS spine (operative and non operative management)

Neil Oxborrow

Treatment options for hip dysplasia and lower limb deformities in MPS and ML

Sandra Breyer

02:00 – 03:30 pm
Additional workshop for affected persons

Workshop 6
"Orthopaedic technology: supply of aids at MPS"

Mike Unmacht

03:15 – 04:00 pm

Coffee break

04:00 – 06:00 pm
Living with MPS from an adult/juvenile perspective
Chairs: Stewart Rust & Manjit Singh

Patient Experiences “Aging with MPS and related diseases”

Balint Velich, Alexia Brandau, Rachel Siew, Jenny Klein, Manoe Susanna, Marielle Langseth

07:30 – 10:30 pm

Network Dinner at the congress hall
Champagne reception at 07:00 pm

09:00 – 10:30 am
Supportive Therapies
Chair: Sandra Breyer

Osteopathy - a complementary treatment method

Susanne Kiener

Pain Management – State of the art plus complementary approaches

Lucia de Zen

Psychological support for patients and families

Stewart Rust

10:30 – 11:00 am

Coffee break

11:00 – 12:00 pm
Future Prospectives  
Chair: Simon Jones

MPS like diseases

Kurt Ullrich

Shaping Safe Systems for MPS: A New Perspective on Patient Safety

Florian Lagler

Using AI to detect rare diseases in hospital electronic records

Jama Nateqi

12:00 – 01:15 pm
Closing Ceremony

Panel discussion: where are we going? Patients need driven development or product-driven demand?

Umut Akyol, Roberto Giugliani, Joseph Muenzer, Jama Nateqi, Terri Klein, Simon Bond

Abstract awards & Take home
Outlook on 2026/Farewell

You find the programme of the different days by clicking the buttons.

12:00 - 6:00 pm
MPS II & IV Challenging Airway

Experts Meeting

12:30 - 02:00 pm

Global Regulatory Experts Meeting

03:00 - 05:30 pm
Opening ceremony

Opening presentation: “Auf Augenhöhe – On Eye Level”

Ali Mahlodji, Fredi Wiesbauer, Carmen Kunkel, Michaela Weigl, Eva Luise Köhler, Florian Lagler, Christina Lampe, Nicole Muschol, Marianne Rohrbach

“Auf Augenhöhe - On Eye Level” Communication on an equal footing
Panel Discussion

Jibreel Arshad, Jenny Klein, Julie Eisengart, Elke Schubert Hjalmarsson, Georg Schetter, Florian Lagler

05:30 - 08:00 pm

Get-together at the exhibition

08:00 - 09:30 pm
CHAMPS live webinar "at eye level"
Please note that this part of the programme will be held in German and not translated into English.

Title: Interdisciplinary diagnostics for rare diseases in Germany, Austria and Switzerland
Status, experiences, differences, future


Organiser:
- CME-Verlag - Fachverlag für medizinische Fortbildung GmbH
- hk-kommunikation.de

on behalf of:
- Society for Mucopolysaccharidoses Germany
- Society for Mucopolysaccharidoses Austria
- Society for Mucopolysaccharidoses Switzerland

Topic of the event:
- Interdisciplinary co-operation in diagnosis > where can we (the doctors) improve?
- Suspicion parents (something is wrong here) > do we take the parents seriously enough?
- Doctor (listening at eye level) > Do we listen to the patient/parents?
- What is the situation at country level with interdisciplinary co-operation (e.g. England, Spain or America)?

Management:
- Moderation: Kristina Hentschel
- Head physician: Dr Christina Lampe
- Chair of MPS Austria/Germany/Switzerland: A representative of the patient organisations.
- Scientific management of the congress: Florian B. Lagler, Christina Lampe, Nicole Maria Muschol, Marianne Rohrbach

Congress sponsors/supporters/supporters:
• Chiesi
• Sanofi-Aventis Deutschland GmbH
• Ultragenyx Pharmaceutical Inc.

07:15 – 08:30 am
Breakfast Symposium – registration will be offered via congress app

Breakfast Symposium sponsored by SANOFI

Journey through the MPS I history: a story of commitment and lessons learned
Maurizio Scarpa
Christina Lampe

08:45 – 10:15 am
Clinical Management
Chair: Maurizio Scarpa & Bob Stevens

Expanding outcomes beyond cognition in MPS

Julie Eisengart

One size does not fit all' -- Distangeling Sleep Disturbances & Disorders in Rare Diseases

Osman Ipsiroglu

Benefit and limitations of personalized medicine

Suzanne McDonald

10:15 – 10:45 am

Coffee break

10:45 – 12:15 pm
Translational Research
Chairs: Roberto Giugliani & Terri Klein

The role of inflammation in MPS diseases

Brian Bigger

Genetic diagnostic tools in rare diseases

Holger Prokisch

NMR-metabolomics: Identifying indicators for neurodegeneration and disease progression in Metachromatic Leukodystrophy

Lucia Laugwitz

Computational Methods for Early Drug Discovery

Johannes Kirchmair

12:15 – 02:00 pm

Lunch

12:30 – 01:45 pm
Lunch Symposium – registration will be offered via congress app

Takeda Lunch Symposium sponsored by TAKEDA
Neurocognitive Aspects of MPS II: From Developmental Assessment to Emerging Therapies

1. Dr. Christina Lampe: MPS II Disease Burden and Neuronopathic Manifestation
2. Dr. Hannerieke van den Hout: Neuropsychological and Behavioral Assessment of Patients with MPS II
3. Dr. Nicole Muschol: Emerging Therapies in MPS II

02:00 – 03:30 pm  
Clinical Presentation and Diagnostics
Chairs: Fatih Ezgü & Georg Schetter

Newborn-screening in MPS and related diseases – benefits and challenges

Barbara Burton,
Maurizio Scarpa

Arylsulfatase K (ARSK) deficiency-A novel subtype of mucopolysaccharidosis

Barbara Plecko

Multiple Sulfatase Deficiency - understanding and treating an ultra-rare disease

Lars Schlotawa

Additional workshop for affected persons
02:00 – 06:00 pm

Workshop 2
“Simulation Workshop”

Florian Lagler

03:30 – 04:00 pm

Coffee break

04:00 – 06:00 pm
Diagnostic and Treatment Updates
Chairs: Joe Muenzer & Virginia Tsai   

Establishing consensus-based clinical care guidelines for Sanfilippo syndrome

Cara O’Neill

Overview on gene therapy in lysosomal disease

Simon Jones

Treatment of Alpha-Mannosidosis

Julia Hennermann

In utero enzyme replacement therapy for lysosomal storage disorders - interim results

Paul Harmatz

06:00 – 08:00 pm

Remembrance ceremony

07:15 – 08:30 am
SCIENTISTS BREAKFAST SYMPOSIUM
Registration will be offered via congress app

Breakfast Symposium for scientists
Sponsored by CHIESI

Emerging trends and persistent challenges in lysosomal storage diseases (LSDs)

Chair: Julia Hennermann (Germany)

Speaker 1: C. Colon (Spain)
Diagnostic assessment of LSDs

Speaker 2: N. Muschol (Germany)
Clinical management of patients with LSDs

Speaker 3: N. Guffon ( France)
Therapeutic strategies for the management of LSDs

Conclusion: Chair – Prof. J. Hennermann

08:45 – 10:15 am
Study Updates – Late Breaking News
Chair: Brian Bigger

An AAV Based Clinical Trial for Mucopolysaccharidosis IVA; 2022-BGTC-005

Shunji Tomatsu

AVP6, a promising small molecule therapy for Sanfilippo disease.

Patricia Dubot

Campsite™ Phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II).

Roberto Giugliani

Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brainpenetrant enzyme replacement therapy) in Mucopolysaccharidosis Type II

Joseph Muenzer

08:45 – 10:15 am
Additional workshop for affected persons

Workshop 3
“Important Aspects on Physiotherapy: The Hands (Carpal tunnel, contractures)”

Christine Wurlitzer

10:15 – 10:45 am

Coffee break

10:45 – 12:15  
New Study approaches
Chairs: Paul Harmatz  & Kim Angel                                                       

Gene therapy for mucolipidosis II and III with S1S3 phosphotransferase

Patty Dickson

Fusion proteins – ongoing clinical trials

Mireia del Toro

Update on clinical trials with PPS

Roberto Giugliani

ICV/IT ERT

Fatih Ezgü

10:45 am - 12:15 pm
Additional workshop for affected persons

Workshop 4
“Important Aspects on Physiotherapy: Immobility and its Consequences”

Christine Wurlitzer

12:15 – 01:45 pm

Lunch

12:30 – 01:30 pm
LUNCH SYMPOSIUM
Registration will be offered via congress app

Lunch Symposium sponsored by BIOMARIN

Conversations to improve the identification and management of non-classical MPS:
a patient, an orthopaedic surgeon and an MPS specialist

Christina Lampe, Annalena Schulz, Lothar Seefried

01:45 – 03:15 pm
Anesthesia and Skeletal Disease Manifestations
Chairs: Christina Lampe & Zoltan Ujfalusi

Anesthesia in MPS/ML and related diseases

Thorsten Dohrmann

The MPS spine (operative and non operative management)

Neil Oxborrow

Treatment options for hip dysplasia and lower limb deformities in MPS and ML

Sandra Breyer

02:00 – 03:30 pm
Additional workshop for affected persons

Workshop 6
"Orthopaedic technology: supply of aids at MPS"

Mike Unmacht

03:15 – 04:00 pm

Coffee break

04:00 - 05:30 pm

Poster session in the exhibition area

04:30 – 06:30 pm
Chair: Krzysztof Kuschidlo

Introduction to International Sanfilippo Syndrome Alliance (ISSA): goals, plans, initiatives, data and other research enablers.
Kerren Hosking, Lisa Melton, Cara O'Neill, Raquel Marques, Katia Moletta, Guilhain Higonnet

04:00 – 06:00 pm
Living with MPS from an adult/juvenile perspective
Chairs: Stewart Rust & Manjit Singh

Patient Experiences “Aging with MPS and related diseases”

Balint Velich, Alexia Brandau, Rachel Siew, Jenny Klein, Manoe Susanna, Marielle Langseth

07:30 – 10:30 pm

Network Dinner at the congress hall
Champagne reception at 07:00 pm

08:45 – 10:30 am
Best of Poster Session  
Chair: Maurizio Scarpa                                    

Longitudinal assessment of cognitive impairment in 23 patients with Mucopolysaccharidosis (MPS) Type II: a retrospective study of 15 years of follow-up.

Julia Holdorp

Insights into the Molecular Basis of Resveratrol-Induced Autophagy in a Mouse Model of Sanfilippo Syndrome Type IIIB

Estera Rintz

Alpha-mannosidosis international caregiver and patient survey: changes in mobility, pain or discomfort, and patients’ self-care over time

Christina Lampe

Insights into lysosomal, autophagic, and mitochondrial alterations in novel neuronal cell models of mucopolysaccharidosis III A

Maria Colonna

iPSC-Derived, Human Neural Stem Cell Therapy in the Brains of MPS I Mice

Shih-hsin Kan

Microglia-derived extracellular vesicles promote neuropathology in Sanfilippo Syndrome

Chloé Dias

Therapeutic potential of intracerebroventricular recombinant human Heparan-N-Sulfatase enzyme replacement therapy in MPSIIIA mice

Aram Yang

10:30 – 11:00 am

Coffee break

11:00 – 12:00 pm
Future Prospectives  
Chair: Simon Jones

MPS like diseases

Kurt Ullrich

Shaping Safe Systems for MPS: A New Perspective on Patient Safety

Florian Lagler

Using AI to detect rare diseases in hospital electronic records

Jama Nateqi

12:00 – 01:15 pm
Closing Ceremony

Panel discussion: where are we going? Patients need driven development or product-driven demand?

Umut Akyol, Roberto Giugliani, Joseph Muenzer, Jama Nateqi, Terri Klein, Simon Bond

Abstract awards & Take home
Outlook on 2026/Farewell

Here you can find our flyer for the children's programme:

DOWNLOAD PROGRAMME

A varied children's programme will take place parallel to the congress programme. This programme is tailored to the respective needs of your children and is suitable for all age groups.

We offer
– individual care for MPS patients by trained carers
– group care for children up to the age of five in the kindergarten area     
– group care for fit MPS children and adolescents and their siblings aged six and over
– evening programme for children from the age of eight

Childcare times:

Thursday, April 04, 2024
02:30 - 06:00 pm
Friday, April 05, 2024    
08:00 am - 06:00 pm
08:00 - 10:00 pm (evening supervision)
Saturday, April 06, 2024
08:00 am - 06:00 pm
09:00 - 10:00 pm (evening supervision)
Sunday, April 07, 2024
08:00 am - 12:00 pm
Our team consists of trained (special) educators, experienced mothers and siblings of MPS patients, students from the nursing schools in Kitzingen and Ochsenfurt. You can be sure that your children are in very good hands. Snacks and drinks are provided during the entire childcare period. Please inform us of any allergies and intolerances when registering and inform your child's carer personally. Naturally, the children will be catered at lunchtime. The kids will have lunch with their carers in the children's area.
1.       individual care for MPS patients by trained carers
For all children in 1:1 care, we provide a room that meets their needs. Room Q1 offers plenty of space for movement, as well as a quiet area, a ball pit, a creative corner and games. Our volunteers have been trained in MPS, but please take the time to inform your child's carer in detail about your child's individual needs at check-in. Please don't forget to mention any special behaviour patterns or reactions to noise, light and lots of movement that your child shows.
2.      group care for children up to the age of five in the kindergarden area
All children up to the age of five will have a great time in the kindergarden area!
3.      group supervision for MPS children and teenagers and their siblings aged six and older
A varied programme with three workshops is offered to meet different interests of our young participants. We are delighted to present outstanding professionals who will give the children a great time. Our volunteer team is there to take care of all the needs of the kids outside of the workshop program to ensure their well-being.
4.      evening programme
To give you the opportunity to socialise in the evenings, we offer a group supervision programme for all children aged eight and older who do not require individual supervision.The evening programme takes place on Friday and Saturday and offers fun together with Manuel and his team. Children's table:
For Saturday evening there is the possibility to register your children from eight years to have dinner at the children's table. Please register your child by
06:00 pm on Friday at the latest, if you have not already done so.
Check-in
Please register your child on Thursday between 01:00 and 02:00 pm in room Q1 for individual care and in the panoramic level for groupware to confirm attendance and to meet the carers in person. Please use this time to give detailed information so that we know all your child's needs. At check-in, we will need your signature and the telephone number where you can be reached during the day. Please bring all the important items your child will need during the childcare period.