# Juvenile CLN3 disease

> Página oficial: https://raras.org/doenca/juvenile-cln3-disease
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 699780 — https://www.orpha.net/en/disease/detail/699780

## Descrição clínica

Doença rara neurodegenerativa que causa perda progressiva de visão e declínio cognitivo em crianças e adolescentes. Manifesta-se com convulsões, problemas motores e comportamentais, levando à deficiência intelectual severa.

## Epidemiologia e herança


## Genes associados (1)

- **CLN3** — Battenin [Disease-causing germline mutation(s) in]
  - Função: Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as reg

## Ensaios clínicos ativos (5)

- **NCT05642221** [COMPLETED]: Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls — https://clinicaltrials.gov/study/NCT05642221
- **NCT03307304** [RECRUITING]: Investigations of Juvenile Neuronal Ceroid Lipofuscinosis — https://clinicaltrials.gov/study/NCT03307304
- **NCT03770572** [ACTIVE_NOT_RECRUITING]: Gene Therapy for Children With CLN3 Batten Disease — https://clinicaltrials.gov/study/NCT03770572
- **NCT04637282** [NOT_YET_RECRUITING]: Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3 — https://clinicaltrials.gov/study/NCT04637282
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Juvenile CLN3 disease. Disponível em: https://raras.org/doenca/juvenile-cln3-disease
**Formato HTML**: https://raras.org/doenca/juvenile-cln3-disease
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=699780