Alpha-Mannosidosis Peer-to-Peer Exchange

Lyon, France

March 24th & 25th 2026

Hôpital Femme Mère Enfant (HFME)

About the Programme

This two-day educational programme has been designed to cover a range of important and topical areas in the field of alpha-mannosidosis (AM). The programme will comprise lecture-based teaching and discussions with the hospital's rare disease specialists.

Delegates will have the opportunity to observe and participate in patient case study discussion sessions, meet the multidisciplinary team, and learn how they work in a practical way to manage the care of their patients.

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Expert Faculty

Learn from Lyon's leading rare disease specialists

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Interactive Sessions

Participate in case studies & MDT discussion

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Research Insights

Hear the latest findings and Real World Evidence

Key Topics

The programme will address critical areas in alpha-mannosidosis management:

Multidisciplinary Approach

Collaborative MDT working on the AM patient journey

Treatment Options

Current & emerging therapies for AM

Diagnostics & Screening

Genetic testing, early recognition & newborn screening

Clinical Management

Audiology, pulmonology, cardiology, orthopaedics & more

Patient Registries

SPARKLE Registry & the role of prospective data

AM & MPS

Diagnosis, overlaps & differential diagnosis

Functional Assessment

Physiotherapy, life-span care & outcomes

Holistic Care

Psychological aspects & patient-centred management

Case Studies

Discuss compplex case studies with your fellow experts

Programme Chair

Dr Nathalie Guffon

Dr Nathalie Guffon is a Lyon-based paediatrician and metabolic specialist leading lysosomal disorder care at Hôpital Femme Mère Enfant (Hospices Civils de Lyon), with globally recognised expertise in alpha-mannosidosis and mucopolysaccharidoses (MPS).

Dr Guffon has been principal investigator and advisor on international studies and registries. She has shaped diagnostic pathways, enzyme replacement therapy, and real-world care standards, and is an active voice at global forums, championing integrated patient-centred care focused on early diagnosis, longitudinal follow-up, and quality of life.

Programme Agenda

Day 1 – Tuesday March 24th 2026

09:00 - 09:10

Welcome

Dr Nathalie Guffon

09:10 - 09:20

Delegate Introductions

09:20 - 09:45

Introduction of the Reference Centre for Hereditary Metabolic Diseases MDT

Collaborating as an MDT on the AM patient journey

Dr Nathalie Guffon

09:45 - 10:15

Pathomechanism, Clinical Characteristics & Natural History of AM

Dr Karla Cifuentes

10:15 - 10:30

Q & A

10:30 - 11:00

BREAK

11:00 - 11:45

Diagnostic Methods & Genetic Testing

Improving early recognition, Newborn Screening (NBS), and differential diagnosis for AM vs MPS

Magali Pettazzoni

11:45 - 12:15

Current & Emerging Treatment Options for AM & MPS

Dr Nathalie Guffon / Dr Karla Cifuentes

12:15 - 12:45

Cardiology: Monitoring, Management & Treatment in AM & MPS

Dr Nicolas Pangaud

12:45 - 13:30

LUNCH

13:30 - 14:10

Orthopaedic Issues in AM and MPS

Dr Pierre Journeau

14:10 - 14:30

Radiological Diagnostics in AM and MPS

Sara Cabet

14:30 - 15:00

Physiotherapy: Life-span Care, Functional Assessment, and Outcomes

Françoise Aubert

15:00 - 15:15

Q & A

15:15 - 15:30

BREAK

15:30 - 16:25

Ask the MDT: Real World Examples of AM Patients

All Delegates

16:25 - 16:30

Close of Day 1

Day 2 – Wednesday March 25th 2026

09:00 - 09:05

Welcome & Introduction to Day 2

Dr Nathalie Guffon

09:05 - 09:35

ENT & Audiological Management in AM & MPS

Dr Sonia Ayari-Khalfallah

09:35 - 10:20

Pulmonary Aspects in AM, and Anaesthetic Risks

Dr Karla Cifuentes

10:20 - 10:30

Q & A

10:30 - 10:50

BREAK

10:50 - 11:20

Lyon Case Studies: Diagnostic Challenges and Long Term Outcome

Dr Nathalie Guffon / Dr Karla Cifuentes

11:20 - 11:50

Eye Manifestations of AM

Dr Nicolas Pianton

11:50 - 12:15

SPARKLE Registry & Etoile Alpha

The role of patient registries, prospective & retrospective data

Dr Nathalie Guffon

12:15 - 12:30

Q & A

12:30 - 13:30

LUNCH

13:30 - 14:00

Holistic Management & Psychological Aspects

Agathe Rizet

14:00 - 14:45

Experience Sharing: What is the Situation in Delegate Countries?

Discussion on challenges, psychosocial management, resources, patient pathways, referrals, communication, etc.

All Delegates

14:45 - 15:00

BREAK

15:00 - 16:00

Hospital/Clinic Visit

All Delegates

16:00 - 16:15

Close of Day 2

Register Now

Spaces are limited for this Peer-to-Peer Exchange. Please register on the link below:

Register for the Event

Registration Password: Lyon2026

This is a non-promotional meeting organised by Pi Healthcare. For information about sponsorship, please see the Industry page.

Venue: Hôpital Femme Mère Enfant (HFME), Floor 10, Cardiology Building | Lyon, France