Samba Trials' Q2 2026 landscape scan identified 25 industry-sponsored, actively-recruiting rare-disease clinical trials in Brazil — 4.3% of the country's 582-trial total. For a TA that's defined by patient scarcity, that's a surprisingly consistent base, and it reflects something about Brazil that most pipeline decks underweight: the rare-disease patient-aggregation infrastructure is genuinely unusual.
Brazilian rare-disease care concentrates at a small number of academic referral centers that serve enormous geographic catchment areas. HCPA's Serviço de Genética Médica — one of the oldest medical-genetics services in Latin America — sees patients referred from across the south of the country. The Instituto Fernandes Figueira (Rio) and the genetics service at HC-FMUSP anchor similar networks. The result: a sponsor running a trial for a 1-in-100,000 indication can often aggregate a cohort at 3-4 Brazilian sites that would require 20+ sites in the U.S. or Europe.
Why Brazil for rare disease
- Patient-aggregation networks that predate clinical-trial databases. HCPA's genetics service, INCA's rare-cancer referral, and the GIPO (Grupo Interdisciplinar de Pesquisa em Oncopediatria) networks have been running rare-disease registries for 20+ years. Investigators know their patient lists by name. Recruitment for ultra-rare indications can compress timelines dramatically.
- SUS-mandated registry for rare diseases. The Política Nacional de Atenção Integral às Pessoas com Doenças Raras (2014) formalized rare-disease care in SUS and mandated referral to designated centers. That created a semi-centralized registry structure that clinical-trial sponsors can access through investigator partnerships.
- Genomic and metabolic-screening infrastructure. HCPA, Instituto Dante Pazzanese, Einstein, and USP Ribeirão Preto run clinical NGS and biochemical-diagnostic panels at research-grade quality. Newborn-screening programs (Teste do Pezinho) for lysosomal storage disorders are expanding, creating a pediatric patient identification pipeline for orphan-indication sponsors.
- Population-genetics diversity matters for regulatory generalizability. Brazilian admixed populations include African, Iberian, Indigenous, Japanese, Italian, and German ancestries at material proportions. For rare-disease sponsors preparing regulatory packages for non-U.S., non-European markets, Brazilian cohort data is often persuasive.
Where the rare-disease trials run
The rare-disease map in Brazil is the most concentrated of any TA. Six to eight centers anchor the bulk of industry-sponsored rare-disease enrollment, with HCPA occupying the top spot by volume across genetics, hematology, and rare-endocrine programs.
| Center | City / State | Role for rare-disease trials |
|---|---|---|
| Hospital de Clínicas de Porto Alegre (HCPA) | Porto Alegre, RS | 53 active industry trials across all TAs; flagship center for rare-disease trials in Brazil with dedicated genetics, neurogenetics, and rare-metabolic units. |
| Hospital São Lucas da PUCRS | Porto Alegre, RS | 30 trials; part of the Porto Alegre rare-disease cluster, often paired with HCPA. |
| Fundação Faculdade Regional de Medicina de São José do Rio Preto (FAMERP) | São José do Rio Preto, SP | 35 trials; high-volume center with rare-cardiovascular and neurology trial experience. |
| Hospital Alemão Oswaldo Cruz | São Paulo, SP | 20 trials; private-academic hybrid with rare-disease trial capacity in hematology and neurology. |
| Hospital Sírio-Libanês | São Paulo, SP | 12 trials; private oncology and rare-cancer reference; strong PI bench. |
| Fundação Pio XII — Hospital de Câncer de Barretos | Barretos, SP | 18 trials; important for rare-cancer and hereditary-cancer programs. |
| Hospital Moinhos de Vento | Porto Alegre, RS | 22 trials; private sector partner to HCPA for parallel-activation on rare-disease programs. |
Geographically, rare-disease trials concentrate in Rio Grande do Sul (189 trials state-wide, Porto Alegre 350 site-level records) and São Paulo (252 state-wide, 454 metro site-level records). Rio de Janeiro (32 state), Minas Gerais (75), and Bahia (78) round out the distribution.
Who's sponsoring rare-disease trials in Brazil
Rare-disease sponsor mix skews more heavily toward emerging biotech than other TAs. From our Q2 2026 top-25: Alexion Pharmaceuticals, Inc. (8 active trials), Genzyme, a Sanofi Company (4), Azafaros A.G. (4), Crinetics Pharmaceuticals Inc. (4), Amgen (13), Bayer (6), and Biogen (6). Big-pharma rare-disease franchises (Roche spinal-muscular-atrophy, Novartis SMA/retinal, Sanofi rare immunology) also contribute.
The presence of Azafaros (lysosomal storage) and Crinetics (rare endocrine) at the top-25 tier is worth noting: these are small emerging biotechs whose total global footprints are not large, but who have made Brazil a core geography. That's the pattern. For an ultra-rare indication, Brazil often represents 10-30% of a sponsor's global enrollment — a much higher share than any broader-indication TA.
Important context on sponsor-by-TA counts
The counts above are overall active-trial counts in Brazil across all TAs — Amgen's 13, Biogen's 6, and so on are not all rare-disease. But for Alexion (pure rare-disease), Azafaros, and Crinetics, the overall-and-rare-disease counts are essentially the same. Sponsor-by-TA granularity is available in the full quarterly landscape report.
Regulatory path: rare-disease considerations
Brazilian regulation runs three parallel tracks: CEP (local), CONEP (central ethics, required for international studies and genetic studies — which includes essentially all rare-disease protocols), and ANVISA (the drug-specific clinical-trial dossier). Historical end-to-end timelines ran 9-12 months; under Lei 14.874/2024 the target is ~6 months.
Rare-disease-specific considerations:
- Genetic-material export is heavily scrutinized. Every rare-disease protocol exports genetic material. CONEP authorization plus a formal Termo de Transferência de Material Biológico are required. Resolução CNS 446/2011 governs biobanking — your dossier needs to match its vocabulary.
- Pediatric protocol requirements. Many rare-disease programs enroll pediatric patients. CONEP pediatric-research requirements (assent procedures, parental-consent workflow, age-appropriate ICF) add to the submission burden. Plan for this explicitly.
- Orphan-drug registration pathway. ANVISA's RDC 205/2017 formalized a pathway for orphan-drug clinical trials with priority review. For qualifying programs, the CT dossier timeline can be meaningfully shorter. This is worth exploring at protocol design time, not after activation.
- Post-trial access obligations. Brazilian regulation has formal post-trial access expectations for rare-disease trials where the investigational therapy may be life-changing. Build this into the protocol and sponsor budget — it's not optional.
How Samba Trials helps
Samba Trials is the clinical-trials consultancy arm of BioAlma. Rare disease is an area where the difference between a well-designed and poorly-designed Brazilian engagement is often the difference between a program hitting or missing its enrollment target globally. We work with sponsors from protocol design through site activation:
- TA-specific feasibility memos. A 2-3 week review of your rare-disease protocol against Brazilian site capacity, known patient-registry pools at each target center, SUS access and reimbursement landscape for the indication, and enrollment-timeline ranges. For ultra-rare indications we can often produce named-patient-cohort estimates.
- Site identification and activation support. Named-center shortlists with PI profiles, active-trial load, historical rare-disease-sponsor relationships, and genomic/metabolic diagnostic capacity.
- ANVISA submission strategy. Parallel-track planning for CEP/CONEP/ANVISA with specific attention to genetic-material export, pediatric requirements, and orphan-drug designation pathway (RDC 205/2017) where applicable.
Get a rare-disease feasibility memo
Send us your protocol synopsis or target indication. We'll return a Brazil-specific feasibility memo within two weeks — named centers, patient-registry assessments, PI candidates, and enrollment ranges.
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