NCT06043518

Brief Summary

The objective of this study is to better understand the structural and functional changes that the central nervous system (CNS) undergoes following congenital upper limb loss. The focus is on the brain's sensory processing and how neuronal changes may relate to clinical measures. By doing so, the hope is to gain insight into the contribution of critical periods to the plasticity of the sensorimotor processing stream. Both macroscopic and microscopic changes of the brain will be examined in individuals with upper limb amelia and compared to healthy controls. fMRI will be combined with behavioural testing to understand which clinical and behavioural determinants drive somatosensory representations along the entire somatosensory processing stream. Using advanced imaging techniques, the aim is to investigate the contribution of brainstem reorganisation to plasticity observed at the cortical level and, by doing so, gain a better understanding of the mechanistic underpinnings of functional reorganisation. Overall, the hope is to provide the first mechanistic insight into whether early life experiences are crucial for the development of the relay nuclei in the central nervous system and how these changes relate to clinical measures such as adaptive behaviours or pain.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
70

participants targeted

Target at P25-P50 for all trials

Timeline
14mo left

Started Jul 2023

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress71%
Jul 2023Jun 2027

Study Start

First participant enrolled

July 5, 2023

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

September 12, 2023

Completed
9 days until next milestone

First Posted

Study publicly available on registry

September 21, 2023

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 30, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 30, 2027

Last Updated

November 19, 2025

Status Verified

October 1, 2025

Enrollment Period

4 years

First QC Date

September 12, 2023

Last Update Submit

November 14, 2025

Conditions

Amputation, CongenitalUpper Limb; Amelia

Keywords

PlasticityCongenital amputeeUpper limb ameliaSomatotopyFunctional MRIHandReorganisation

Outcome Measures

Primary Outcomes (1)

  • Change of functional MRI (fMRI) parameter between 2 to 4 time points

    Change of brain activities is assessed between 2 to 4 time points using fMRI during resting-state or a specific task in patients with congenital amputations and compared to healthy controls

    Up to 50 weeks

Secondary Outcomes (2)

  • Conventional magnetic resonance imaging (MRI) parameter

    Up to 50 weeks

  • Amputees: Motor Activity Log questionnaire

    Up to 50 weeks

Study Arms (2)

Patients with congenital amputation

Diagnostic Test: MRI

Healthy subjects

Diagnostic Test: MRI

Interventions

MRIDIAGNOSTIC_TEST

Use of functional and structural MRI in both the brain and the spinal cord as well as questionnaires and clinical measures of motor function

Patients with congenital amputation

Eligibility Criteria

Age18 Years - 75 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with an upper-limb amputation and healthy subjects.

You may qualify if:

  • Age 18-75
  • Upper-limb congenital amputees with complete absence of a hand
  • Signed informed consent

You may not qualify if:

  • Contraindications to magnetic resonance imaging
  • Neurological impairment of body function impairments not induced by spinal cord injury
  • BMI \> 40
  • Pregnancy
  • Claustrophobia
  • Age 18-75
  • Signed Informed consent
  • Contraindications to magnetic resonance imaging
  • Pregnancy
  • Neurological illness
  • Impairment of body function induced by a congenital upper-limb amputation
  • Claustrophobia
  • BMI \> 40

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Balgrist Campus

Zurich, Canton of Zurich, 8008, Switzerland

RECRUITING

MeSH Terms

Conditions

Amputation, CongenitalEctromelia

Condition Hierarchy (Ancestors)

Limb Deformities, CongenitalMusculoskeletal AbnormalitiesMusculoskeletal DiseasesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Patrick Freund, Prof.

    University of Zurich

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Paige Howell, PhD

CONTACT

+41 44 632 32 94paige.howell@hest.ethz.ch

Sanne Kikkert

CONTACT

+41 44 632 32 94sanne.kikkert@balgrist.ch

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 12, 2023

First Posted

September 21, 2023

Study Start

July 5, 2023

Primary Completion (Estimated)

June 30, 2027

Study Completion (Estimated)

June 30, 2027

Last Updated

November 19, 2025

Record last verified: 2025-10

Locations

CH(1)