Radial DysplasiaNCT02611089
Muscle Connective Tissue in Limb Development and Disease
An observational study of Radial Dysplasia, run by King's College London at 5 sites in United Kingdom.
Trial summary
The objective of this work is to understand how the disruption of the muscle connective tissue contributes to the limb soft-tissue defects in radial dysplasia. In parallel, the researchers will investigate the role of muscle connective tissue in normal limb development. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Radial Dysplasia
- What is being tested?
- Tissue biopsy
- Type of treatment
- Surgery or procedure
- How many people
- 150 participants
- Where
- 5 sitesUnited Kingdom
- Study dates
- 20 Feb 2016to Aug 2036
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Cases - Any patient attending Great Ormond Street Hospital or Guy's and St Thomas' Hospital for reconstructive hand surgery. Controls - Any patient attending Great Ormond Street Hospital, Guy's and St Thomas' Hospital Oxford University Hospitals, Chelsea and Westminster or the Royal Free Hospital for reconstructive hand surgery.
Who may be able to join
- Patients with a clinical diagnosis of radial dysplasia, requiring reconstructive surgery
- Either sex
- Informed (parental) consent to participate
- Patients with an injury requiring reconstructive surgery
- Either sex
- Informed (parental) consent to participate
Who cannot join
- Patients with a clinical diagnosis of radial dysplasia, but not requiring reconstructive surgery
- Patients with a diagnosis other than radial dysplasia
- Patients with extensive previous scarring to their forearm and hand.
- Patients with a significant pathological skin or soft tissue lesion at the donor site.
- Controls
- Patients with extensive previous scarring to their forearm and hand.
- Patients with a significant pathological skin or soft tissue lesion at the donor site.
Trial locations and contacts
5 sites in 1 country. Contact the study team or a site near you to ask about taking part.
George Murphy, PhD FRCS contact
5 sites in 1 country
United Kingdom5 sites, 5 recruiting
- Recruiting
Royal Free Hospital
London, NW3 2QG
Bran Sivakumar, 02074059200 ext. 5222, branavan.sivakumar@gosh.nhs.uk
Bran Sivakumar
- Recruiting
Guy's and St Thomas' Hospital
London, SE1 7EH
George RF Murphy, MA, George.murphy@gstt.nhs.uk
- Recruiting
Chelsea and Westminster Hospital NHS Foundation Trust
London, SW10 9NH
Gill Smith, gill.smith@gosh.nhs.uk
Gill Smith, FRCS(Plast)
- Recruiting
Great Ormond Street Hospital for Children NHS Foundation Trust
London, WC1N 3JH
Branavan Sivakumar, 02074059200 ext. 5222, branavan.sivakumar@gosh.nhs.uk
Gill Smith, 02074059200 ext. 5222, gill.smith@gosh.nhs.uk
- Recruiting
Oxford University Hospitals
Oxford, Oxfordshire, OX3 9DU
Lucy Cogswell, FRCS Plast, 0300 304 7777
George Murphy, FRCS, george.murphy@gosh.nhs.uk
About this study
The objective of this work is to understand how the disruption of the muscle connective tissue contributes to the limb soft-tissue defects in radial dysplasia. In parallel, the researchers will investigate the role of muscle connective tissue in normal limb development.
Read the detailed description
The objective of this work is to understand the origins of the soft tissue defects in a disabling, disfiguring limb anomaly called radial dysplasia, and what mechanisms of normal limb development have been disrupted in these patients to produce their phenotype. The investigators aim to use this knowledge to improve their treatment. Currently, despite sophisticated surgical treatment, the limb malformation the child is born with typically recurs as they grow: it is thus an 'unsolved problem'.
The investigators have previously shown, in an experimental mouse model of radial dysplasia, the underlying soft tissue problem is a change in the muscle connective tissue and its derivatives, causing abnormal soft-tissue patterning. The investigators wish to expand this work into the investigators' patient population by comparing samples of post-natal muscle connective tissue derivatives from radial dysplasia patients with control samples.
The investigators will ask patients undergoing corrective hand surgery to let the investigators take small tissue samples during their planned operations. The investigators will also ask patients having other forms of hand surgery, such as surgery for hand injuries, to let the investigators take similar samples for comparison. In either case, their scar and peri-operative treatment will be unchanged. The investigators will examine the tissue samples in the investigators' laboratory to look for changes in tissue architecture, cellular composition, cell signalling, and how they behave when grown in culture. The investigators will also make attempts to derive cell lines from biopsy samples to use in further studies, exploring cellular phenotype and functional capacity.
Simultaneously, the investigators will look at the long-term surgical outcomes and the range of genetic changes in the investigators' patient population. Eligible patients will be referred for consideration in the (separate) 100,000 genome project; this should further expand the investigators' knowledge of the genetic changes underlying limb anomalies. The ability to combine data on genotype, long-term phenotype and soft tissue changes will give a comprehensive overview of the condition. The investigators expect this to lead to a better understanding of patient subgroups, and to provide a rational basis for improved treatment approaches.
- Conditions
- Radial Dysplasia
- Being tested
- Tissue biopsy
- Keywords
- Muscle connective tissue, Small leucine-rich proteoglycans, Limb development
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Tissue biopsyProcedure or surgery
Sampling of tissue as described.
| Study group | Role | What they receive |
|---|---|---|
| Radial dysplasia patients | Recruited participants will have 2-3 small tissue biopsy samples taken during 1-2 of their planned reconstructive surgical procedures for radial dysplasia, whilst under general anaesthesia in the operating theatre. Samples will be taken by scalpel or scissors, by the operating surgeon, from within the surgical site in the forearm and hand. The skin incision and deep dissection will have to be made as part of the normal course of reconstructive surgery, regardless of participation in this study. Receives: Procedure: Tissue biopsy | |
| Control patients | Recruited participants will have 2-3 small tissue biopsy samples taken during their planned reconstructive surgery for hand trauma, whilst under general anaesthesia in the operating theatre. Samples will be taken by scalpel or scissors, by the operating surgeon, from within the surgical site in the forearm and hand. The skin incision and deep dissection will have to be made as part of the normal course of reconstructive surgery, regardless of participation in this study. Receives: Procedure: Tissue biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterisation of muscle connective tissue derivatives - structure
The characterization of any structural difference in tissue organisation within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia.
Measured: 3 years
Characterisation of muscle connective tissue derivatives - function
The characterization of any functional difference in gene expression within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia.
Measured: 3 years
Secondary outcomes (2)
Identification of biomarker(s).
The identification of a novel biomarker (or biomarkers) for human muscle connective tissue derivatives, which may potentially serve as a diagnostic or prognostic tool
Measured: 3 years
Identification of muscle connective tissue progenitor-cell pool.
The potential identification of a stem-cell-like or progenitor-cell pool for muscle connective tissue derivatives in mature soft tissue.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2015 (estimated)
- Study start20 Feb 2016
- Primary completion1 Feb 2026 (estimated)
- Study completionAug 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Radial DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- King's College London
- Sponsor type
- University, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust, Royal Free Hospital NHS Foundation Trust, Chelsea and Westminster NHS Foundation Trust
- Responsible party
- Sponsor
- Investigators
- Malcolm Logan, PhD, Study chair, King's College LondonBranavan Sivakumar, FRCS(Plast), Principal investigator, Great Ormond Street Hospital for Children NHS Foundation TrustGill Smith, FRCS(Plast), Principal investigator, Great Ormond Street Hospital for Children NHS Foundation TrustGeorge Murphy, PhD FRCS, Principal investigator, Great Ormond Street Hospital for Children NHS Foundation TrustLucy Cogswell, FRCS(Plas), Principal investigator, Oxford University Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02611089
- Sponsor's protocol ID
- 14SG01
- Other IDs
- 15/LO/2085
- Status last verified
- Aug 2025
- First submitted
- 16 Nov 2015
- Last updated
- 27 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Muscle Connective Tissue in Limb Development and Disease
- ClinicalTrials.gov ID
- NCT02611089
- Acronym / sponsor ID
- 14SG01
- Conditions
- Radial Dysplasia
- Keywords
- Muscle connective tissue, Small leucine-rich proteoglycans, Limb development
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- King's College LondonUniversity, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust, Royal Free Hospital NHS Foundation Trust, Chelsea and Westminster NHS Foundation Trust
- Study start
- 20 Feb 2016 (actual)
- Primary completion
- 1 Feb 2026 (estimated)
- Study completion
- Aug 2036 (estimated)
- First posted
- 20 Nov 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The objective of this work is to understand how the disruption of the muscle connective tissue contributes to the limb soft-tissue defects in radial dysplasia. In parallel, the researchers will investigate the role of muscle connective tissue in normal limb development.
Detailed description
The objective of this work is to understand the origins of the soft tissue defects in a disabling, disfiguring limb anomaly called radial dysplasia, and what mechanisms of normal limb development have been disrupted in these patients to produce their phenotype. The investigators aim to use this knowledge to improve their treatment. Currently, despite sophisticated surgical treatment, the limb malformation the child is born with typically recurs as they grow: it is thus an 'unsolved problem'.
The investigators have previously shown, in an experimental mouse model of radial dysplasia, the underlying soft tissue problem is a change in the muscle connective tissue and its derivatives, causing abnormal soft-tissue patterning. The investigators wish to expand this work into the investigators' patient population by comparing samples of post-natal muscle connective tissue derivatives from radial dysplasia patients with control samples.
The investigators will ask patients undergoing corrective hand surgery to let the investigators take small tissue samples during their planned operations. The investigators will also ask patients having other forms of hand surgery, such as surgery for hand injuries, to let the investigators take similar samples for comparison. In either case, their scar and peri-operative treatment will be unchanged. The investigators will examine the tissue samples in the investigators' laboratory to look for changes in tissue architecture, cellular composition, cell signalling, and how they behave when grown in culture. The investigators will also make attempts to derive cell lines from biopsy samples to use in further studies, exploring cellular phenotype and functional capacity.
Simultaneously, the investigators will look at the long-term surgical outcomes and the range of genetic changes in the investigators' patient population. Eligible patients will be referred for consideration in the (separate) 100,000 genome project; this should further expand the investigators' knowledge of the genetic changes underlying limb anomalies. The ability to combine data on genotype, long-term phenotype and soft tissue changes will give a comprehensive overview of the condition. The investigators expect this to lead to a better understanding of patient subgroups, and to provide a rational basis for improved treatment approaches.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Radial dysplasia patients | – | Procedure: Tissue biopsyRecruited participants will have 2-3 small tissue biopsy samples taken during 1-2 of their planned reconstructive surgical procedures for radial dysplasia, whilst under general anaesthesia in the operating theatre. Samples will be taken by scalpel or scissors, by the operating surgeon, from within the surgical site in the forearm and hand. The skin incision and deep dissection will have to be made as part of the normal course of reconstructive surgery, regardless of participation in this study. |
| Control patients | – | Procedure: Tissue biopsyRecruited participants will have 2-3 small tissue biopsy samples taken during their planned reconstructive surgery for hand trauma, whilst under general anaesthesia in the operating theatre. Samples will be taken by scalpel or scissors, by the operating surgeon, from within the surgical site in the forearm and hand. The skin incision and deep dissection will have to be made as part of the normal course of reconstructive surgery, regardless of participation in this study. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Cases - Any patient attending Great Ormond Street Hospital or Guy's and St Thomas' Hospital for reconstructive hand surgery. Controls - Any patient attending Great Ormond Street Hospital, Guy's and St Thomas' Hospital Oxford University Hospitals, Chelsea and Westminster or the Royal Free Hospital for reconstructive hand surgery.
Key inclusion criteria (6 listed)
- Patients with a clinical diagnosis of radial dysplasia, requiring reconstructive surgery
- Either sex
- Informed (parental) consent to participate
- Patients with an injury requiring reconstructive surgery
- Either sex
Key exclusion criteria (7 listed)
- Patients with a clinical diagnosis of radial dysplasia, but not requiring reconstructive surgery
- Patients with a diagnosis other than radial dysplasia
- Patients with extensive previous scarring to their forearm and hand.
- Patients with a significant pathological skin or soft tissue lesion at the donor site.
- Controls
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Tissue biopsySampling of tissue as described. | Procedure or surgery | Control patients, Radial dysplasia patients |
Primary outcome
Characterisation of muscle connective tissue derivatives - structure
Time frame: 3 years
The characterization of any structural difference in tissue organisation within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia.
Characterisation of muscle connective tissue derivatives - function
Time frame: 3 years
The characterization of any functional difference in gene expression within muscle connective tissue derivatives, comparing normal control patients to patients with radial dysplasia.
2 secondary outcomes
Identification of biomarker(s).
Time frame: 3 years
Identification of muscle connective tissue progenitor-cell pool.
Time frame: 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2025.
- Study website - for version control \& distribution of patient information leaflets / consent forms.Link provided by the sponsor.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
George Murphy, PhD FRCS contact
Malcolm Logan, PhD study chair
King's College London
Branavan Sivakumar, FRCS(Plast) principal investigator
Great Ormond Street Hospital for Children NHS Foundation Trust
Gill Smith, FRCS(Plast) principal investigator
Great Ormond Street Hospital for Children NHS Foundation Trust
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Radial Dysplasia, run by King's College London at 5 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Malcolm Logan, BSc PhD (02078486886, malcolm.logan@kcl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterisation of muscle connective tissue derivatives - structure (time frame: 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Aug 2025; AzTrials last refreshed its copy on 30 Oct 2026.