Adrenal& Bone Complications in Paediatric Patients Living With Spinal Muscular Atrophy (SMA)

NCT07530926 | Not Yet Recruiting

• 1 other identifier: SCH-2923
• Study Type: observational
• Target: 550
• Locations: 1 country
• Sites: 1

Brief Summary

Spinal muscular atrophy (SMA) is a genetic disorder that is known to cause damage to specialised nerve cells, called motor neurons. These neurons are located in the spinal cord and transfer signals from the brain to muscles to allow movement. A lack of nerve signalling leads to progressive muscle weakness and wasting, which affects a person' mobility, breathing and swallowing. Treatments have only recently been developed and there are now three commercially available drugs for SMA. These drugs improve survival and mobility of patients with SMA. Patients are surviving longer but other problems apart from muscle weakness have been found in patients with SMA that may be related to SMA. One of the additional problems in SMA investigators have noted is poor bone health. Investigators observed low impact fractures, vertebral fractures, and reduce bone density from a very early age in our cohort. Investigators however do not know if this is related to reduced mobility and subsequent loss of muscle loading of bone in SMA or if this is a direct effect of reduced Survival Motor Neuron (SMN) protein. The natural history of bone health in SMA patients is not well described. Investigators also do not know if the drugs used to treat SMA improves bone health. The additional need of high dose steroids in patients receiving onasemnogene abeparvovec (OA) may also reduce bone health in those receiving this therapy. There are also no licensed treatments for the management of fragile bones (osteoporosis) in children or guidelines or consensus on management of osteoporosis or fractures in SMA. Investigators want to study the bone health in paediatric patients with SMA in UK by looking at the incidence and type of fractures and comparing this in the different drug therapy groups against those who do not receive a SMA drug, assess impact of duration of steroid use and bone health in those that received onasemnogene aberparvovec, and to determine what needs to be measured and recorded to assess bone health most effectively in SMA. To do this investigators will be utilising data collected nationally through the SMA REACH UK network already and study medical records on data that is felt important but not collected by the SMA REACH UK database. Investigators are only planning to review existing information - no additional tests will be performed.

Conditions

SMA - Spinal Muscular Atrophy

Keywords

Bone mineral density; Spinal muscular atrophy; Vertebral fracture assessment; Dual-energy X-ray absorptiometry

Outcome Measures

Primary Outcomes (1)

• Primary Outcome

  To determine the prevalence and type of fractures in paediatric patients living with SMA in the UK.

  Through study completion, and average of 1 year

Secondary Outcomes (6)

• Secondary Outcome

  Through study completion, and average of 1 year

• Secondary Outcome

  Through study completion, and average of 1 year

• Secondary Outcome

  Through study completion, and average of 1 year

• Secondary Outcome

  Through study completion, and average of 1 year

• Secondary Outcome

  Through study completion, and average of 1 year

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants included on the paediatric SMA REACH UK database

You may qualify if:

• Participants who have been consented by 1 May 2025 and included on the paediatric SMA REACH UK database who are younger than 16 years.
• Participants included on the paediatric SMA REACH UK database who are over the age of 16 years on 1 May 2025 who have been reconsented by SMA REACH UK after the age of 16 years.

You may not qualify if:

• If participants included on the paediatric SMA REACH UK database who are over the age of 16 years on 1 May 2025 have not been reconsented after turning 16 years old, retrospective data from after the age of 16 years will not be included.

Sponsors & Collaborators

• Sheffield Children's NHS Foundation Trust: lead

Study Sites (1)

Sheffield Children's NHS Foundation Trust

Sheffield, South Yorkshire, S10 2TH, United Kingdom

Location

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

• Min Tsui Ong

  Sheffield Children's NHS Foundation Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gillian Gatenby

CONTACT

01142267980; gillian.gatenby@nhs.net

Charlotte Heath

CONTACT

01142267980; charlotte.heath17@nhs.net

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 14, 2025
• First Posted: April 15, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: April 24, 2026

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)