Clinical trial NCT05631418: Chinese Regional Spinal Muscular Atrophy Patient Registration Study
Official title: The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Recruitment
Keywords: Spinal Muscular Atrophy
long-term follow-up
quality of life
disease-modifying treatment
clinical efficacy
disease prognosis
newborn screening
Lead sponsor: The Children's Hospital of Zhejiang University School of Medicine
Sponsor class: OTHER
First posted: 2022-11-30
Enrollment: 0
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: PROBABILITY_SAMPLE
Study population: Genetically confirmed 5qSMA patients through 1 to 3 types younger than 18 years old followed in our hospital since October 2019 with or without disease-modifying treatment.

Brief summary: The primary objectives of this study are to obtain clinically meaningful data on the survival, outcomes, prognosis and treatment effect of all the patients with spinal muscular atrophy (SMA) 5q types 1 to 3 (according to international classification), being followed in the Children's Hospital, Zhejiang University School of Medicine since October 2019. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for children patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional and so on), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events.

Detailed description: The detailed objectives of this study included but not be limited to the following aspects:

1. to collect and describe overall demographic, familial, clinical, biological, and genetic characteristics of patients with 5qSMA diagnosed and treated in regions of China, by the type of SMA (type 1,2, and 3);
2. to study the impact of proactive and symptomatic medical interventions (such as bracing) and medications (disease-modifying treatment, anti-infectious, digestive, nutritional supplements, ect.) in the evolution of patients;
3. to study the long-term evolution (survival, motor and respiratory functions, spinal shape, growth and nutritional function) of 5qSMA in treated and untreated populations, by new available therapies;
4. to study the incidence and mortality rate of 5qSMA in treated and untreated populations;
5. to identify and document the different therapeutic strategies by sub-populations and by discontinuation or follow-up of treatments;
6. to evaluate prognostic factors of responses to different drug therapies;
7. to study the tolerance of treatments by type of treatments, by type of SMA and overall tolerance (including adverse events);
8. to help popularize newborn screening for SMA and pre-symptom treatment among Chinese population;
9. to get knowledge of the probable costs of care for 5qSMA patients in different groups (disease types, ages);
10. to provide needful elements to evaluate the health care costs for the disease;
11. to study the autonomy and the quality of life of patients depending on different therapies and the impact on patients' caregivers;
12. to help facilitate development of basic research on SMA in the conduct of trials on new treatment.

Eligibility criteria: Inclusion Criteria:

1. Genetically confirmed 5qSMA patients through 1 to 3 types younger than 18 years old followed in our hospital since October 2019;
2. For prospective study: inform consent form signed by patient;
3. Not combined with any other genetic and metabolic diseases;

Exclusion Criteria:

1. Other type of SMA (not 5q).
2. Under guardianship or curatorship.
3. Unable to understand or cooperate with the study.

Primary outcomes:
measure: World Health Organization (WHO) motor milestone change
timeFrame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Hammersmith Infant Neurological Examination-2 (HINE-2) scale score change
timeFrame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Self-reporting/Caregivers' reporting collection
timeFrame: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Motor function evalution-Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders(CHOP INTEND) scale
timeFrame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Motor function evalution-Hammersmith Functional Motor Scale-Expanded(HFMSE) scale
timeFrame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Motor function evalution-Revised Upper Limb Module(RULM) scale
timeFrame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Motor function evalution change-6 minutes walking test(6MWT)
timeFrame: treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Yearly changes of incidence and morbi-mortality-vital events
timeFrame: every year for 3 years
measure: Change from baseline respiratory function
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
measure: Change from baseline digestive-nutritional function
timeFrame: baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Change from baseline spinal scoliosis Cobb angle
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
Secondary outcomes:
measure: Pulmonary function
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
measure: Cardiological function monitoring
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
measure: Body composition measurement-Lean body mass
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
measure: Body composition measurement-Fat mass
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
measure: Biomarkers
timeFrame: baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year
measure: Patients and caregivers' quality of life
timeFrame: baseline(before treatment), 1 year, 2 year, 3 year
Other outcomes:
Locations:
city: Hangzhou
country: China
facility: The Children's Hospital, Zhejiang University School of Medicine
Study officials:
affiliation: The Children's Hospital of Zhejiang University School of Medicine
name: Shanshan Mao, MD
role: PRINCIPAL_INVESTIGATOR
References: