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Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA) (SMA-REACH)

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ClinicalTrials.gov Identifier: NCT03520179
Recruitment Status : Recruiting
First Posted : May 9, 2018
Last Update Posted : May 9, 2018
Sponsor:
Information provided by (Responsible Party):
Great Ormond Street Hospital for Children NHS Foundation Trust

Brief Summary:

The investigators aim is to establish a Spinal Muscular Atrophy (SMA) National Platform to improve UK standards of care, manage national and International clinical trials and facilitate translational research for this common neuromuscular disease.

To achieve this purpose investigators will start to systematically collect longitudinal validated outcome measures for SMA children followed at GOSH, the largest cohort followed in UK, and pilot and update novel outcome measures. This will be done ensuring that data collected are not only clinically meaningful but also robust for subsequent use in clinical trials.

In collaboration with the MRC Neuromuscular Centre in London and Newcastle, investigators will link the existing registries and the longitudinal data collection of outcome measures and develop a hub and bespoke platform model linking the other paediatric UK centres involved in the clinical management of SMA patients. This UK SMA Platform (SMA REACH UK) will be a unique infrastructure containing the largest comprehensive longitudinal series of SMA patient data in the UK; the data collected will be agreed between the relevant other UK centres stakeholders and will take into consideration other international initiatives with historical success in SMA treatment and research.

Ongoing analysis including modern psychometric techniques will ensure that the functional data collected in the UK SMA population meets the high statistical standards required for the data to inform natural history studies and be usable as an outcome measure for clinical trials.

An innovative genetic therapy preclinical project taking advantage of our expertise in antisense oligonucleotide compounds will also be pursued on a parallel research project.


Condition or disease
Spinal Muscular Atrophy

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 70 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 18 Months
Official Title: Improving Standards of Care and Translational Research in Spinal Muscular Atrophy (SMA)
Actual Study Start Date : December 17, 2013
Estimated Primary Completion Date : January 31, 2019
Estimated Study Completion Date : January 31, 2019


Group/Cohort
SMA TYPE 1
genetically confirmed SMA
SMA TYPE 2
genetically confirmed SMA
SMA TYPE 3
genetically confirmed SMA, Ambulant and non-ambulant



Primary Outcome Measures :
  1. Physiotherapy assessment using The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) [ Time Frame: 1 year ]
    This is a scale used for the assessment of movement and function of very weak infants with SMA type 1. It consists of 16 items of motor function graded 0-4 with a maximum achievable score of 64.

  2. Physiotherapy assessment using the Test of Infant Motor Performance Screening Items (TIMPSI) [ Time Frame: 1 year ]
    This scale assesses motor performance in infants born pre-term to 4 months of age. It consists of 29 items, with 3 item sets (screening, easy and hard sets).


Secondary Outcome Measures :
  1. Patient´s perception about the condition, interventions performed and Standards of Care assessed by patient interviews [ Time Frame: 1 year ]
    The patients will be selected depending on availability and willingness to participate.The interviews will be performed at the most convenient time for the patient. They will be done either face to face, through a phone call or videoconference.

  2. Patients perception about the condition, interventions performed and Standards of Care assessed using the Paediatric Outcomes Data Collection Instrument (PODCI) [ Time Frame: 1 year ]
    This is a questionnaire which assesses overall health, pain and ability to participate in activities of daily living. It can be scored relating to eight scales - upper extremity and physical function, transfers and basic mobility, sports/physical functioning, pain/comfort, treatment expectations, happiness, satisfaction with symptoms, global functioning.

  3. Patients perception about the condition, interventions performed and Standards of Care assessed using the Egan Klassifikation Scale (EK2) [ Time Frame: 1 year ]
    This is a questionnaire to be used for non-ambulant patients and consists of a series of 17 questions reporting on physical function including ability to transfer, cough, swallowing, fatigue and arm function.



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Ages Eligible for Study:   3 Months to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with genetically confirmed SMA types I, II and III (ambulant and nonambulant) followed at GOSH and Newcastle (phase 1).
Criteria

Inclusion Criteria:

  • It will be genetically confirmed SMA

Exclusion Criteria:

  • There are no exclusion criteria if there is a genetic diagnosis of SMA confirmed

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03520179


Contacts
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Contact: Salma Samsuddin s.samsuddin@ucl.ac.uk
Contact: MariaCristina Scoto m.scoto@ucl.ac.uk

Locations
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United Kingdom
Dubowitz Neuromuscular Centre Recruiting
London, United Kingdom, WC1N 1EH
Contact: Salma Samsuddin       s.samsuddin@ucl.ac.uk   
Principal Investigator: Francesco Muntoni         
Sponsors and Collaborators
Great Ormond Street Hospital for Children NHS Foundation Trust

Additional Information:

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Responsible Party: Great Ormond Street Hospital for Children NHS Foundation Trust
ClinicalTrials.gov Identifier: NCT03520179     History of Changes
Other Study ID Numbers: 11DN15
First Posted: May 9, 2018    Key Record Dates
Last Update Posted: May 9, 2018
Last Verified: April 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Atrophy
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases