BRASIL

RARE DISEASES - DEFINED BY PREVALENCE

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BRAZIL: 65 / 100,000 (1/1,538)¹

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^1. www.saude.gov.br

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Definición

de Enfermedades Raras �o Poco Frecuentes

Datos de incidencia en el país

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HOW MANY PEOPLE IN THE WORLD

ARE AFFECTED BY A RARE DISEASE ?

• 3,482 – 5,910 / 100,000 inhabitants¹ (3,5 – 6.0 %)
• 262.9 – 446.2 millions affected in the world¹ (7.5 billion)
• 17.8 – 30.3 million affected in Latin America¹ (640 million)
• 7.3 – 12.4 million affected in Brazil² (215 million)

1. Nguengang Wakap et al, Eur J Human Genet 2019
2. Calculated with data from Nguengang Wakap et al, 2019, estimating a Brazilian population of 215 million

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General Number:

13 million people with RD in Brazil

Registro nacional de pacientes de ER

We don’t have a national register of patients with Rare Diseases.

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We have correct numbers of rare disorders patients identified on NewBorn Screening Test (six diseases) and also some specific banks like MPS Bank (REDE MPS BRASIL

- redempsbrasil@ufrgs.br / ufrgs.br/geneticahcpa)

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REDE MPS BRASIL

(51) 98038-6819

redempsbrasil@ufrgs.br

ufrgs.br/geneticahcpa

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Codificación e inventario de ER

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Brazil adopts the International Classification of Diseases (ICD). �The latest version of the ICD (ICD-11 or CID-11, in Portuguese), came into effect on 1^st January 2022, but still not a reality in the country.

�Obs!

The Ministry of Health declared that it is already working on the translation of the ICD-11, a complex and lengthy task. The body took a position saying that the official version in Portuguese should be ready and revised in December 2022, but the Ministry's forecast is that the use of ICD-11 by health professionals in Brazil will take place from January 2025.

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Regulaciones / Leyes nacionales oficiales que apoyen el establecimiento y desarrollo de un plan de ER

• Rare Diseases National Policy / Law Enforcement #199 de 01/30/14

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• Clinical Research / Resolution 563 - 11/10/2017

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• Fast Track / Anvisa RDC 204/2017 - 12/27/2017

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• Special Procedures on RD / Anvisa RDC 205/2017 - 12/28/2017

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• Gene Therapy / Anvisa Resolution 260 - 12/21/2018

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• Newborn Screening Test / Law 14.154 - 05/26/21

Cantidad de Grupos de Pacientes en el país

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There are hundreds of patients' initiatives concerning rare diseases. But we do not have a census. With the creation of Febrararas, the Brazilian Federation of Rare Diseases Associations, we have almost 70 federates working together on the RD Brazilian scenario.

May./2022 – 60 associations

Jan./2019

Representación permanente y oficial de los pacientes en: � elaboración, seguimiento y evaluación de las políticas de ER

Febrararas - National Presence�Presence on the five Brazilian regions

Associates with long experience on helping rare disease community:

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• 35% with more than 15 years of experience
• 15% with 10 to 15 years of experience
• 27% with 5 to 10 years of experience
• 9% with 3 to 5 years of experience
• Only 14% with up to 3 years of experience

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Pioneer in guiding rare patients �in the pandemic. �

“Guidelines on Coronavirus Epidemic (Covid-19) for People with Rare Diseases and your Caregivers”

ABACDG (CE)

C (CE)

ACDM (CE)

AMPS-IBB (PE)

ASFIP (PI)

ASPADOR (PB)

ASPAHC (PA)

IDR-PD (PB)

Jardim Borboletas (BA)

Federal associates status on Feb./2021.

Febrararas Network

AADORA (MG)

AAME (RJ)

ABEM (SP)

ABH (SP)

ABPDG (RJ)

ABRANGHE (SP)

ABRAPHEM (SP)

ABRAPOMPE (RJ)

AFAG (SP)

AHF (SP)

AME (SP)

Assoc. Mineira de MPS (MG)

ARELA (MG)

Bengala Verde (SP)

Casa Hunter (SP)

Dermacamp (SP)

FADEMG (MG)

IGEIM (SP)

Inst Amor e Carinho (SP)

Mães Metabólicas (RJ)

PRO CURA (SP)

SAUVI (SP)

SAFE Brasil (SP)

ABPAT (DF)

AbrACCHS (DF)

AjudeC (DF)

Aliança Cavernosa (DF)

AMAVI (DF)

APEMIGOS (DF)

APPEB (DF)

Assoc Goiana de Esclerose (GO)

Assoc. Sul Matogrossence Fibrose Cística (MS)

Sos Kids (DF)

ABRAPO (PR)

ABGLICO (PR)

ACDR & ACAMU (SC)

ACPAGUER (SC)

AHESC (SC)

ANPB (PR)

APPAG (PR)

Assoc Dar a Mão (PR)

Debra Brasil (SC)

Inst. Atlas Biosocial (RS)

OBADIM (PR)

Sanfilippo Brasil (SC)

Programas nacionales de investigación en ER

• More than 40 research centers throughout the country.
• Started in 2020. Data collection from 2018, 2019 and 2022. Obs! Pandemic period was not included.
• Total cases collected: 15.000
• Project extended by the Ministry of Health. Data tracking extended until 2025.
• Status: Results are under analysis and will be published shortly

National Inquiry for Rare Diseases

Acceso a centros especializados � y redes de atención integral en ER

REFERENCE SERVICES FOR RARE DISEASES

RSRDs STARTED TO BE DESIGNATED IN 2016

RSRDs RECEIVE FROM MOH:�

• MONTHLY FUNDING TO MAINTAIN A MULTIDISCIPLINARY TEAM
• PAYMENT FOR PATIENT, INCLUDING CLINICAL ASSISTANCE, LABORATORY INVESTIGATION AND GENETIC CONSELING

DESPITE THIS POLICY, THOUSANDS OF PATIENTS ARE STILL WAITING FOR FOR A CONSULTATION IN A RDRC

Iniciativas

Casa dos Raros – Porto Alegre

First multidisciplinare center fully dedicated to people with rare disease and their caregivers

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Hospital dos Raros – São Paulo

First fully dedicated hospital to RD patients that will be constructed in São Paulo

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Casa dos Raros – Porto Alegre

Sponsors

Released: Feb. 28th, 2023

Casa dos Raros – Porto Alegre

Services:

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• Multidisciplinary care to RD patients and caregivers
• Specialized lab tests
• Healthcare team training
• Clinical research and innovative technology
• Genetic counseling
• Data collection, biobank and registry

Casa dos Raros – Porto Alegre

1) REMOTE PRELIMINARY PHASE

(consent, medical records, preliminary tests, evaluation by local team)

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2) ON-SITE EVALUATION

(physical examination, additional tests, guidance and counseling)

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3) REMOTE/ON-SITE CONCLUSION/GUIDANCE

(conclusion, management plan, counseling, training of local healthcare team)

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4) REMOTE/ON-SITE FOLLOW-UP

(conclusion, management plan, counseling, training of local healthcare team)

Hospital dos Raros – São Paulo

Area: 1,756.56m² / 18 floors (4 basements)

Total built Area: 16,080m²

Laboratory Space (1 floor): 550m²

Hospital dos Raros – São Paulo

Facilities

• Multidisciplinary outpatient clinics (20 rooms)
• Day Hospital (8 beds)
• Hospital Ward (91 beds)
• Surgical Center (2 theaters)
• Intensive Care Unit (20 beds)
• Facilities for meetings (up to 200 people)

Hospital dos Raros – São Paulo

Partnerships I - Latin America Registry

Promote a data collection of rare disease cases in Latin America

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Oportunidades

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Partnerships II – Explore PDPs

Investigate the possibility of Latin PDPs to manufacturing biosimilars, generics and vectors to rare diseases�

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Latam Researchers Guideline

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Create a unified Latin America guide of specialists and reference centers in rare diseases

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¡GRACIAS!

www.congresoercal.com