Clinical profile and diagnostic practices in children with spinal muscular atrophy - a retrospective study at a genetic clinic of a tertiary care public hospital in western India.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 55
- 试验地点
- 1
- 主要终点
- Enhanced understanding of SMA in our patient population: Compilation of comprehensive demographic and clinical data from the SMA patient cohort at our centre will provide valuable insights into prevalent disease subtypes, delays in referral and diagnosis, and highlight atypical presentations or complications.
研究概览
简要总结
This retrospective study aims to evaluate the clinical profiles, diagnostic pathways, treatment modalities, and referral patterns of children with Spinal Muscular Atrophy (SMA) who have availed services at the Genetic Clinic of the Department of Paediatrics, Seth GS Medical College and KEM Hospital, Mumbai.
The primary objective is to assess the clinical profile and diagnostic practices of SMA at a genetic clinic of a tertiary care public hospital. Secondary objectives focuses on the management strategies opted and barriers faced by SMA patients in timely diagnosis. Data collection will involve demographics, clinical features, diagnostic and treatment details, and patient outcomes. Key metrics include the time lag from symptom onset to diagnosis, factors contributing to delays, and differences in practices across SMA subtypes. Reasons for delayed presentation, including resource limitations, misinterpretation of symptoms, and systemic barriers, will also be examined.
The study is ethically compliant, with data anonymization and confidentiality maintained. A waiver of informed consent will be sought as the study is retrospective and non-interventional. Statistical analyses will involve descriptive and inferential methods, using SPSS software.
The findings are expected to provide insights into the challenges of diagnosing and managing SMA in India. By identifying gaps in early detection and treatment access, the study aims to inform strategies for improving care timeliness, resource allocation, and awareness among healthcare providers and families. Ultimately, the research seeks to enhance the quality of life for children with SMA by promoting better diagnostic and therapeutic practices within the Indian healthcare framework.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 1.00 Day(s) 至 18.00 Year(s)（—）
- 性别
- All
入选标准
- •All patients of any gender with childhood-onset SMA diagnosed at age less than or equal to 18 years based on genetic testing documenting biallelic deletion of exon 7 ± deletion of exon 8 or compound heterozygous disease-causing variants in the SMN1 gene.
排除标准
- •Adult-onset SMA.
- •SMA caused by genes other than SMN1.
结局指标
主要结局
Enhanced understanding of SMA in our patient population: Compilation of comprehensive demographic and clinical data from the SMA patient cohort at our centre will provide valuable insights into prevalent disease subtypes, delays in referral and diagnosis, and highlight atypical presentations or complications.
时间窗: Single time point study at baseline.
次要结局
- This study will identify errors in diagnostic practices prevalent in SMA & awareness of misdiagnosis with reference to genetic tests like MLPA, PCR, etc, especially in institutions lacking standardized protocols or access to genetic testing.(1year)
- Investigate obstacles to effective treatment, including lack of patient awareness, affordability issues, and limited access to therapies, and thereby identify avenues for improvement in care delivery.
研究者
Dr Mamta Muranjan
Seth GS Medical College and KEM Hospital