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"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series"
O M Espitia Segura1,2, Z Hernández3, N I Mancilla4,5
1Fundación Hospital Pediátrico la Misericordia (HOMI), Bogotá, Colombia.
Insights
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) often presents atypically in Colombian patients. Early diagnosis and cerliponase alfa treatment show positive impacts on disease progression and quality of life.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is an autosomal recessive genetic disorder caused by mutations in the CLN2/TPP1 gene, leading to enzyme deficiency.
- Classical CLN2 disease phenotypes manifest with seizures and delayed language development between ages 2 and 4 years.
- This study investigates CLN2 disease presentation in a Colombian cohort and the effects of cerliponase alfa treatment.
Purpose of the Study:
- To describe the clinical presentation of CLN2 disease in Colombian patients.
- To evaluate the impact of cerliponase alfa treatment on disease progression and patient outcomes.
- To report a novel mutation associated with CLN2 disease.
Main Methods:
- A case series of 8 patients diagnosed with CLN2 disease and treated with cerliponase alfa.
- Patients underwent clinical and paraclinical follow-up for up to 24 months, assessing status before and after treatment.
- Genetic analysis was performed, including identification of mutations in the CLN2/TPP1 gene.
Main Results:
- Five out of eight patients presented with an atypical CLN2 disease phenotype, characterized by later onset of symptoms (mean onset at 48 months vs. 24 months for classical phenotype).
- Seizures and developmental delay were the most frequent symptoms observed.
- Treatment with cerliponase alfa was well-tolerated, with no serious adverse events and no significant decline in clinical status (≤2 points on the Hamburg, Weill Cornell, and CNL2 clinical assessment scale) during the follow-up period.
Conclusions:
- This is the first reported case series of CLN2 disease in Colombia, with a majority of patients exhibiting atypical phenotypes.
- Early diagnosis and prompt initiation of cerliponase alfa therapy are crucial for improving disease outcomes and quality of life.
- Cerliponase alfa is a feasible, well-tolerated, and accepted treatment option for CLN2 disease patients and their caregivers in Colombia.
Introduction:
Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease.
Methods:
Case series report of 8 patients with a confirmed diagnosis of neuronal ceroid lipofuscinosis treated with cerliponase alfa who remained on clinical and paraclinical follow-up for up to 24 months before and after treatment.
Results:
An atypical phenotype, associated with initial symptoms and late diagnosis, was present in 5/8 patients. The most frequent symptoms were seizures and developmental delay, with age of onset at 24 months (classical phenotype) and 48 months (atypical phenotype). A novel mutation (c.1438G > A) was found in two siblings. All of the patients received cerliponase alfa, and there were no serious adverse events. No decline in the clinical status greater than 2 points on Hamburg, Weill Cornell and CNL2 clinical assessment scale was observed during follow-up after treatment initiation.
Conclusion:
This is the first case series reported for neuronal ceroid lipofuscinosis patients in Colombia. In contrast with other reports, the majority of cases reported here displayed an atypical phenotype. Our study highlights the importance of early diagnosis and timely initiation of therapy, which is a feasible therapy, well tolerated by patients and accepted by caregivers in this country, generating a positive impact in the quality of life of CLN2 patients and on disease outcome.
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