Health Condition 1: G129- Spinal muscular atrophy, unspecified
Conditions
Interventions
Intervention1: Nil: Nil
Sponsors
Seth GS Medical College and KEM Hospital
Eligibility
Inclusion criteria
Inclusion criteria: 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.
Exclusion criteria
Exclusion criteria: 1. Adult-onset SMA. 2. SMA caused by genes other than SMN1.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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.Timepoint: Single time point study at baseline. | — |
Secondary
| Measure | Time frame |
|---|---|
| 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.Timepoint: 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.Timepoint: | — |
Countries
India
Contacts
Public ContactDr Mamta Muranjan
Seth GS Medical College and KEM Hospital
Outcome results
None listed