I International Meeting on : Menkes & Other Rare Copper Diseases (MARCO I) & Charity Gala

12-13 September 2024,
Málaga, Spain

Basic Details

Hybrid modality (in-person and online)
Thursday, 12 September 2024 and Friday, 13 September 2024 (full days)
Friday, 13 September 2024, 20:00 hrs – Charity Gala
Simultaneous interpretation (English-Spanish available)
Link to live streaming: vimeo.com/event/4380080
Detailed Schedule: Program Breakdown
Recommended hotel: Hotel Maestranza (154 eur/night).
Email (accommodation): malaga@mshoteles.com
Price: 30 euros (meeting) & 100 euros (gala dinner)
Payment: BIC/Swift: CAIXESBBXXX- IBAN: ES40 2100 0928 1302 0006 3432

Organising Committee

Day 1 : Thursday, 12 September 2024,

Menkes Day

Schedule Breakdown

08:30-09:30 Registration of participants
09.30-09:50 Opening and welcoming addresses
09:50-10:30 Inaugural lecture: Copper metabolism and the brain by Svetlana Lutsenko
10:30-11:00 Menkes disease: the challenges of a rare disease by Francesc Palau

— Coffee Break —

11:30-12:00 Ethics of prenatal sequencing of the whole genome for rare disorders: the case of Menkes disease by Anne-Marie Gerdes
12:00-12:30 The role of hospital compounding in access to treatments by Miquel Villaronga, Rubén Varela
12:30-13:00 Drug repurposing in rare diseases: the case of elesclomol-copper by Vishal Gohil
13:00-13:40 Approaches to early diagnosis and clinical management of Menkes patients by José Miguel Ramos-Fernández, Elena Godoy Molina

— Lunch —

15.00-15.30 The role of philanthropy in rare diseases: the case of Menkes disease by Yusuf Hamied
15:30-16:15 Round Table 1: The Copper(less) Committee: a unique initiative of international scientific cooperation. Moderator: Denis Broun
Members : Michael J. Petris, Francesc Palau, Aurora Mateos, Nina Horn.
16:15-16:45 Challenges of a clinical trial for Menkes disease by Vikram Sudarsam

— Tea Break —

17:15-18:00 Round Table 2: Clinical follow-up and support for Menkes patients
with exceptional treatment with elesclomol-copper. Moderator: Francesc Palau
Members : Elena Godoy, Stephanie Lotz, Rosa Marqués.
18:00-19:00 Round table 3: the voice of Menkes families. Moderator: Aurora Mateos
Members : Association Angelli per la Vita (Menkes Italy), family of a child following Menkes exceptional treatment, Foundation Amigos de Nono (Menkes Spain), Other Menkes families

Day 1 Speakers

* Svetlana Lutsenko, Professor of Physiology at the Johns Hopkins School of Medicine and Associate Director for Basic Science and Clinical Relations at Institute for Basic Biomedical Sciences

* Francesc Palau, Director of the Department of Genetic Medicine and Pediatric Institute of Rare Diseases (IPER and CIBERER), Hospital Sant Joan Déu, Barcelona, Spain

* Diego Martinelli, Head, Metabolic Diseases Unit at Bambino Gesù Paediatric Hospital, Rome, Italy

* Elena Godoy Molina, Attending Pediatrician, Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Regional University Hospital, Málaga, Spain

* Anne-Marie Gerdes, Professor, Dept of Genetics Rigshospitalet, Copenhagen University, Denmark

* Miquel Villaronga, Hospital Pharmacist, Hospital Sant Joan de Déu, Barcelona, Spain

* Rubén Varela, Hospital Pharmacist, Complejo hospitalario León, Spain

* Vishal Gohil, Professor, Department of Biochemistry & Biophysics, Texas A&M University, College Station, TX, USA

* Yusuf Hamied, Philanthropist, CEO CIPLA Therapeutics

* Denis Broun, Director Givopax, Former Executive Director of UNTAID, World Health Organization, Medical Director of Menkes International

* Michael J. Petris, Professor of Biochemistry, Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, MO, USA

* Francesc Palau, Director, Department of Genetic Medicine and Pediatric Institute of Rare Diseases (IPER and CIBERER), Hospital Sant Joan Déu, Barcelona, Spain

* Aurora Mateos, Founder and Director, Menkes International

* Nina Horn, Professor of Molecular Medicine. Head of Laboratory and Research at Kennedy Center

* Vikram Sudarsam, CEO, Engrail Therapeutics

* Francesc Palau. Director. Department of Genetic Medicine and Pediatric Institute of Rare Diseases (IPER and CIBERER), Hospital Sant Joan Déu, Barcelona, Spain

* Elena Godoy. Attending Pediatrician, Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Regional University Hospital, Málaga, Spain

* Stephanie Lotz. Clinical Researcher, Department of Genetic Medicine and Pediatric Institute of Rare Diseases (IPER and CIBERER), Hospital Sant Joan Déu, Barcelona, Spain

* Rosa Marqués. Neurological Physiotherapist, expert in Menkes children, Dulce Nombre de Maria Psychopedagogic Institute, Málaga

* José Miguel Ramos-Fernández. Neuropediatrician, Head of the Child Neurology Unit. Department of Pediatrics, Regional University Hospital, Málaga, Spain

Day 2 : Friday, 13 September 2024

Schedule Breakdown

09:00-09:30 New treatment pathways for copper related rare diseases by Michael J. Petris
09.30-10:00 Progress in gene therapy for rare copper diseases by Cristina Fillat
10:00-10:30 Wilson’s disease in pediatric patients: diagnosis and treatment by Aurelia Poujois
10:30-11:00 The Huppke-Brendel Syndrome and pre-clinical studies
related to the disease by Victoriano Mulero

— Coffee Break —

11:30-12:15 Round Table 4: The role of national drug regulatory agencies in new
treatments for rare diseases Manuel Ibarra, Milena Peraita
12:15-12:45 Inspirational stories: The importance of civil society
for rare disease new therapies by Nick Sireau
12:45-13:30 Round Table 5: The voice of other copper rare diseases families. Moderator Moderator: Aurora Mateos
Members : Faustino Giménez, Mª Paz Bustos, Other families of patients with rare copper diseases.

— Lunch —

Workshop for families 

Side meeting room (level 1) Only in Spanish

10:30- 11:15 Workshop on nutrition by MD Javier Blasco 

– Ad hoc nutrition aspects for patients with copper rare diseases, natural food enrichment, texturing and thickeners.

11:15- 12:00 Workshop on physiotherapy by Rosa Marqués

– The role of physiotherapists in copper rare diseases treatments and homework with patients.

(Food and drinks available during the workshop)

15.00-15.30  Informed medical consent and rare diseases by Joaquín Pérez Catalán
15:30-16:15 Round Table : Saving lives by predicting rare diseases
through newborn screening. Moderator: Raquel Yahyaoui
Members : James (Jim) Bonham, Cristiano Rizzo
16:15-16:45 Closing lecture: Central role of metals in biomedicine by Raphaël Rodriguez
16:45-17:15 Closing ceremony

— Charity Gala —

Day 2 Speakers

* Michael J. Petris, Professor of Biochemistry, Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, MO, USA

* Cristina Fillat, Group Leader, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)-Hospital Clínic, Barcelona

* Aurelia Poujois. Coordinator of Rare Disease Reference Centre “Wilson’s Disease and Other Copper-Related Rare Diseases” Neurology Department Rothschild Foundation Hospital, Head and Neck Expertise.

* Victoriano Mulero. Professor, Coordinator of Research Group on Immunity, Inflammation and Cancer, University of Murcia.

* Rosa Marqués, Neurological Pediatric Physiotherapist and Trainer Head of Clinical Pediatric Physiotherapist Teams.

* Nick Sireau, Beacon for Rare Diseases, CEO and Chair of Trustees at the AKU Society (UK)

* Manuel Ibarra, Head of the Department of Medicines Inspection and Control at the Spanish Agency for Medicines and Health Products (AEMPS).

* Milena Peraita, Head of Compassionate Use at the Spanish Agency for Medicines and Health Products (AEMPS).

* Faustino Giménez, Wilson Spain Association (Asociación Española de Familiares y Enfermos de Wilson)

* Mª Paz Bustos, Association Huppke-Brendl Syndrome Spain (Princesa Gabriela)

* Joaquín Pérez Catalán, Director, Division of International Relations, Spanish Agency of Data Protection

* Raquel Yahyaoui, Head, Dept. of Clinical Biochemistry. Clinical Laboratory Geneticist (EBMG), Hospital Regional Universitario de Málaga, IBIMA-Plataforma BIONAND, Spain.

* James (Jim) Bonham, President Elect of International Society of Newborn Screening

* Cristiano Rizzo, Principal Biologist of the Metabolic Diseases and Drug Biology Laboratory. Bambino Gesu Children’s Hospital, Rome, Italy.

* Aurora Mateos, Founder and Director, Menkes International

* Raphaël Rodriguez. Skłodowska-Curie Chair of Chemical Biology, Research Director CNRS. Institut Curie, France.

Menkes International Association (MIa)

Data Protection Notice and
Third-Party Data Transfer





MIa´s primary mission is setting up a Menkes international patients ‘registry to enhace research to combat Menkes disease. It is a matter of extreme urgency to put in place an international registry to assist researches around the world as the life of many children is at stake.


All data processing by MIa as a data controller and by third parties acting as data processors will take place in accordance with the following terms:





Purpose and lawfulness of the processing



Personal data provided by the Menkes patient´s families in the form of patient’s medical history or any other form will be incorporated to an international registry that will be made available to accredited researchers and verified research institutions which may share these data with reliable third parties for the same or compatible purposes. Provision of access will be condition to the favourable opinion of a Scientific Committee in place for these purposes.



The provision of the patients’ records by the families equals to a fully informed and freely given consent of the said processing of personal data.



When the data will be processed by researches and research institutions, MIa will not be considered a joint controller for those processing operations and its role will be limited to facilitate any necessary contact between those researches and the patients’ families.






Categories of data being processed





The personal data collected and shared with researchers and researcher institutes relates to patients of the Menkes disease in the form of patient’s records or any other form as well as the contact details and related information of family members of those patients.





International transfers




As the fight against this disease is an international endeavour, the data will be transferred to third countries outside the European Economic Area. If researches and verified institutions are not located in countries deemed offering an equivalent level of data protection, the transfer and subsequent processing will take place on the basis of the research exception provided in the General Data Protection Regulation.






Contractual obligations and security measures




MIa undertakes to sign contractual arrangements with researches and research institutions having access to the registry stipulating that:



the data will only be used and shared with legitimate and trustworthy parties and for the only purpose of combating the Menkes disease,
the data will be subject to state of the art security measures to prevent undue access o dissemination; in the case of a known data breach, MIa undertakes to take urgent action and to inform family members where appropriate.





Exercise of data protection rights



Access, rectification, deletion, erasure and any data protection rights can be exercised by sending an electronic mail to the following address:



As the registry will be located in Spain, any complaints or request for investigation can be submitted to the Agencia Española de Protección de Datos.