Chinese Regional Spinal Muscular Atrophy Patient Registration Study

NCT05631418 | Withdrawn

• 1 other identifier: CHZhejiang
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Recruitment

Keywords

Spinal Muscular Atrophy; long-term follow-up; quality of life; disease-modifying treatment; clinical efficacy; disease prognosis; newborn screening

Outcome Measures

Primary Outcomes (11)

• World Health Organization (WHO) motor milestone change

  Treated and untreated patients with SMA Type 1-3: change of WHO motor milestone from baseline to 3 years to track the patients' motor functional development/status. World Health Organization motor milestone score ranges from 0 to 18. The higher the score is, the better the motor function is.

  baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Hammersmith Infant Neurological Examination-2 (HINE-2) scale score change

  Treated and untreated patients with SMA Type 1-3: change of HINE-2 scale score from baseline to 3 years to help track the patients' motor functional development/status. The HINE-2 scale score ranges from 0 to 26. The higher the score is, the better the motor function is.

  baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Self-reporting/Caregivers' reporting collection

  Treated and untreated patients with SMA Type 1-3: motor function change acquired from patients themselves and their caregivers. (Subjective reports were collected through interviews and no evaluation scale was used here.)

  baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Motor function evalution-Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders(CHOP INTEND) scale

  For children ≤ 2 years: change of CHOP INTEND scale score. The CHOP INTEND scale score ranges from 0 to 64. The higher the score is, the better the motor function is.

  treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Motor function evalution-Hammersmith Functional Motor Scale-Expanded(HFMSE) scale

  For children older than 2 years, ambulatory or not: Change of HFMSE scale score. The scale score ranges from 0 to 66. The higher the score is, the better the motor function is.

  treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Motor function evalution-Revised Upper Limb Module(RULM) scale

  For children children older than 6 years, ambulatory or not: Change of RULM (Revised Upper Limb Module) scale score. The scale score ranges from 0 to 37. The higher the score is, the better the motor function is.

  treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Motor function evalution change-6 minutes walking test(6MWT)

  For ambulatory individuals: added the change of 6MWT from baseline to 3 years to test exercise endurance. (The walking distance within 6 minutes is taken as the evaluation index, and there's no specific score range.)

  treated/untreated: baseline, 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Yearly changes of incidence and morbi-mortality-vital events

  Events of newly diagnosis, hospitalizations, recurrent infections, fractures, complications and death.

  every year for 3 years

• Change from baseline respiratory function

  Onset of respiratory support or change in the mode and time (including intubations).

  baseline(before treatment), 1 year, 2 year, 3 year

• Change from baseline digestive-nutritional function

  Digestive events, onset of nutritional support or change in the mode and time and special intervention.

  baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

• Change from baseline spinal scoliosis Cobb angle

  Onset of spinal deformity, or increment of over 5° in the Cobb angle (examination in supine position or in the upright position, with or without brace, with or without implant (surgery), and the change of the bone mineral density in lumbar.

  baseline(before treatment), 1 year, 2 year, 3 year

Secondary Outcomes (6)

• Pulmonary function

  baseline(before treatment), 1 year, 2 year, 3 year

• Cardiological function monitoring

  baseline(before treatment), 1 year, 2 year, 3 year

• Body composition measurement-Lean body mass

  baseline(before treatment), 1 year, 2 year, 3 year

• Body composition measurement-Fat mass

  baseline(before treatment), 1 year, 2 year, 3 year

• Biomarkers

  baseline(before treatment), 0.5 year, 1 year, 1.5 year, 2 year, 2.5 year, 3 year

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• The Children's Hospital of Zhejiang University School of Medicine: lead

Study Sites (1)

The Children's Hospital, Zhejiang University School of Medicine

Hangzhou, 310052, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

Genomic DNA may be extracted from the whole blood samples of the patients to carry out the genetic testing.

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Shanshan Mao, MD

  The Children's Hospital of Zhejiang University School of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director

Study Record Dates

• First Submitted: October 23, 2022
• First Posted: November 30, 2022
• Study Start: November 1, 2022
• Primary Completion: December 1, 2025
• Study Completion (Estimated): December 1, 2026
• Last Updated: February 23, 2023

Record last verified: 2023-02

Locations

CN (1)