SMA1ExSpAnD SMANCT05954455
Exploring Bulbar Function, Speech And Communication Development in SMA Type 1
An observational study of SMA1, run by Institute of Child Health at 1 site in United Kingdom.
Trial summary
5q-spinal muscular atrophy (5q-SMA) is a rare, autosomal recessive neuromuscular disease characterized by degeneration of motor neurons in the spinal cord and lower brainstem with progressive muscle atrophy, weakness, and paralysis. The incidence is 1 in 7-10,000 live births. Read more about this study
- Who is it for?
- Ages 0 to 18 years
- Conditions the study is for
- SMA1
- How many people
- 30 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 21 Mar 2024to Dec 2026
- 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 0 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: In the first instance, we will recruit SMA 1 paediatric patients (up to 18 years of age) who are under the care of the Neuromuscular team at the Dubowitz Neuromuscular Centre, London, UK, and who are being treated with any approved disease-modifying therapies. A total number of 30 patients is expected to be enrolled in the pilot phase of the study.
Who may be able to join
- genetic documentation of 5q SMA;
- onset of clinical signs and symptoms at ≤ 6 months (180 days) of age;
- 0 - 18 years of age
- treatment with any of the approved disease-modifying therapies;
- parent(s)/legal guardian(s) willing and able to complete the informed consent process and comply with study procedures and visit schedule.
Who cannot join
- any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures;
- parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form.
- any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures;
- parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Great Ormond Street Hospital
London, WC1N 3JH
Giovanni Baranello
About this study
Official title: Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)
5q-spinal muscular atrophy (5q-SMA) is a rare, autosomal recessive neuromuscular disease characterized by degeneration of motor neurons in the spinal cord and lower brainstem with progressive muscle atrophy, weakness, and paralysis. The incidence is 1 in 7-10,000 live births. 5q-SMA presents a wide range of phenotypes that are classified into five clinical groups depending on age of onset and maximum motor milestone achieved. SMA type 1 presents shortly after birth and before six months of age with inability to achieve independent sitting and limited life expectancy due to respiratory complications (high mortality rate by 2 years of age). In addition to the severe gross-motor and respiratory impairment, bulbar weakness and dysfunction represent an obstacle to the development of verbal skills in these patients. To date, very little is known about these functions in children with SMA 1. With the increasing number of long-term SMA 1 survivors worldwide thanks to the availability of new pharmacological treatments, it has become obvious that treated children show new phenotypes, presenting changes not only in motor and respiratory function, but also in other domains, including bulbar function, speech and communication development. We aim to investigate the evolution of bulbar function and speech/communication development in children with SMA type 1 treated with approved disease-modifying therapies through validate scales and questionnaires for the paediatric population. Additional neurophysiological and neuroimaging studies will be offered on an optional basis to further investigate the underlying brain electrical activity, and brain structural and functional organization. The information gathered would promote the definition of additional outcome measures capturing improvement at these levels. A better understanding of the development of these areas would help to plan SMA 1- tailored supportive programs provided by speech and language therapists, thus enhancing the current recommendations for management in SMA.
Read the detailed description
Study design: observational longitudinal study. In the first instance, this is intended as a single-centre pilot study with a total duration of 3 years. A larger longitudinal study in a wider national and international cohort will be planned according to preliminary results and insights from this pivotal study. The first appointment will be the screening visit. Initially the trial will be discussed, and informed consent will be obtained for participation in the trial. Information will be collected from the patient and their family including demographics, medical history and detail on medications used by the patient. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. After this the investigator will be able to confirm eligibility for the trial. The second visit is the baseline, during this a set of assessments will take place to establish the patients' baseline function. This will include a bulbar function assessment (speech and swallowing), a speech and communication assessment and a cognitive assessment (Thinking abilities; memory, language, reasoning and perception). The investigator will collect further data on respiratory function (breathing) and gross motor function (Muscle strength and abilities). The investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. There are further tests which could take place at this visit which are an optional part of the study these include event-related potentials, Brain scan (MRI) and additional communication tests. Patients will then be seen at 6 monthly intervals, at 6m, 12m, 18m, 24m, 30m and 36 months. At each of these appointments and changes to medications will be documented. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. Assessments which took place at baseline will be repeated including a bulbar function assessment (speech and swallowing), a speech and communication assessment and we will collect data on respiratory function (breathing) and gross motor function (muscle strength and abilities). Cognitive testing will occur at visits at 12, 24 and 36 months.
At all visits the investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. If patients have decided to take part in additional cognitive testing, then this will occur at each 6 monthly visit. The month 36 visit will be the end of study visit so as well as the above will include repeat testing of the optional event-related potentials and brain scan (MRI).
- Conditions
- SMA1
What is being measured
The primary outcome is the main question the study is designed to answer.
Bulbar function - Changes from baseline
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS)
Min score( Worse) - Max score 6 (Better performance)
Measured: Baseline, Visit Month 12, Month 24, and Months 36
Bulbar function
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS)
Min score 1( Worse) - Max score 6 (Better performance)
Measured: Visit Month 6
Bulbar function
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS)
Min score 1 (Worse) - Max score 6 (Better performance)
Measured: Visit Month 18
Bulbar function
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS)
Min score 1( Worse) - Max score 6 (Better performance)
Measured: Visit Month 30
Speech and Communication - Changes from baseline
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences
For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist:
Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63
For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist:
Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Measured: Baseline, Month 12, Month 24, and Months 36
Speech and Communication
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences
For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist:
Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63
For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist:
Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/373
Measured: Visit Month 6
Speech and Communication
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences
For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist:
Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63
For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist:
Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Measured: Visit Month 18
Speech and Communication
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences
For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist:
Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63
For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist:
Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Measured: Visit Month 30
Speech and Communication - Changes from baseline
Peabody Picture Vocabulary Test (PPVT)
Measured: Baseline, Visit Month 6, Month 12, Month 18, Month 24, Month 30 and Months 36
Speech and Communication
Peabody Picture Vocabulary Test (PPVT)
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 6
Speech and Communication
Peabody Picture Vocabulary Test (PPVT)
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 18
Speech and Communication
Peabody Picture Vocabulary Test (PPVT)
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 30
Speech and Communication - Changes from Baseline
Social Communication Questionnaire (SCQ)
Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Measured: Baseline, Month 12, Month 24, and Months 36
Speech and Communication
Social Communication Questionnaire (SCQ)
Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Measured: Visit Month 6
Speech and Communication
Social Communication Questionnaire (SCQ)
Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Measured: Visit Month 18
Speech and Communication
Social Communication Questionnaire (SCQ)
Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Measured: Visit Month 30
Secondary outcomes (4)
Cognitive function - Changes from baseline
Bayley Scales of Infant \& Toddler Development - Forth Edition
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Baseline, Month 12, Month 24, and Months 36
Cognitive function
Bayley Scales of Infant \& Toddler Development - Forth Edition
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 6
Cognitive function
Bayley Scales of Infant \& Toddler Development - Forth Edition
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 18
Cognitive function
Bayley Scales of Infant \& Toddler Development - Forth Edition
Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Measured: Visit Month 30
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2023
- Study start21 Mar 2024
- Primary completionSep 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for SMA1Studies 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 only
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institute of Child Health
- Sponsor type
- University, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05954455
- Sponsor's protocol ID
- 19NM18
- Acronym
- ExSpAnD SMA
- Status last verified
- Aug 2024
- First submitted
- 29 Jun 2023
- Last updated
- 16 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)
- ClinicalTrials.gov ID
- NCT05954455
- Acronym / sponsor ID
- ExSpAnD SMA / 19NM18
- Conditions
- SMA1
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Institute of Child HealthUniversity, hospital or other
- Collaborators
- Great Ormond Street Hospital for Children NHS Foundation Trust
- Study start
- 21 Mar 2024 (actual)
- Primary completion
- Sep 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 20 Jul 2023 (actual)
- 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.
5q-spinal muscular atrophy (5q-SMA) is a rare, autosomal recessive neuromuscular disease characterized by degeneration of motor neurons in the spinal cord and lower brainstem with progressive muscle atrophy, weakness, and paralysis. The incidence is 1 in 7-10,000 live births. 5q-SMA presents a wide range of phenotypes that are classified into five clinical groups depending on age of onset and maximum motor milestone achieved. SMA type 1 presents shortly after birth and before six months of age with inability to achieve independent sitting and limited life expectancy due to respiratory complications (high mortality rate by 2 years of age). In addition to the severe gross-motor and respiratory impairment, bulbar weakness and dysfunction represent an obstacle to the development of verbal skills in these patients. To date, very little is known about these functions in children with SMA 1. With the increasing number of long-term SMA 1 survivors worldwide thanks to the availability of new pharmacological treatments, it has become obvious that treated children show new phenotypes, presenting changes not only in motor and respiratory function, but also in other domains, including bulbar function, speech and communication development. We aim to investigate the evolution of bulbar function and speech/communication development in children with SMA type 1 treated with approved disease-modifying therapies through validate scales and questionnaires for the paediatric population. Additional neurophysiological and neuroimaging studies will be offered on an optional basis to further investigate the underlying brain electrical activity, and brain structural and functional organization. The information gathered would promote the definition of additional outcome measures capturing improvement at these levels. A better understanding of the development of these areas would help to plan SMA 1- tailored supportive programs provided by speech and language therapists, thus enhancing the current recommendations for management in SMA.
Detailed description
Study design: observational longitudinal study. In the first instance, this is intended as a single-centre pilot study with a total duration of 3 years. A larger longitudinal study in a wider national and international cohort will be planned according to preliminary results and insights from this pivotal study. The first appointment will be the screening visit. Initially the trial will be discussed, and informed consent will be obtained for participation in the trial. Information will be collected from the patient and their family including demographics, medical history and detail on medications used by the patient. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. After this the investigator will be able to confirm eligibility for the trial. The second visit is the baseline, during this a set of assessments will take place to establish the patients' baseline function. This will include a bulbar function assessment (speech and swallowing), a speech and communication assessment and a cognitive assessment (Thinking abilities; memory, language, reasoning and perception). The investigator will collect further data on respiratory function (breathing) and gross motor function (Muscle strength and abilities). The investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. There are further tests which could take place at this visit which are an optional part of the study these include event-related potentials, Brain scan (MRI) and additional communication tests. Patients will then be seen at 6 monthly intervals, at 6m, 12m, 18m, 24m, 30m and 36 months. At each of these appointments and changes to medications will be documented. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. Assessments which took place at baseline will be repeated including a bulbar function assessment (speech and swallowing), a speech and communication assessment and we will collect data on respiratory function (breathing) and gross motor function (muscle strength and abilities). Cognitive testing will occur at visits at 12, 24 and 36 months.
At all visits the investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. If patients have decided to take part in additional cognitive testing, then this will occur at each 6 monthly visit. The month 36 visit will be the end of study visit so as well as the above will include repeat testing of the optional event-related potentials and brain scan (MRI).
Study design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- In the first instance, we will recruit SMA 1 paediatric patients (up to 18 years of age) who are under the care of the Neuromuscular team at the Dubowitz Neuromuscular Centre, London, UK, and who are being treated with any approved disease-modifying therapies. A total number of 30 patients is expected to be enrolled in the pilot phase of the study.
Key inclusion criteria (5 listed)
- genetic documentation of 5q SMA;
- onset of clinical signs and symptoms at ≤ 6 months (180 days) of age;
- 0 - 18 years of age
- treatment with any of the approved disease-modifying therapies;
- parent(s)/legal guardian(s) willing and able to complete the informed consent process and comply with study procedures and visit schedule.
Key exclusion criteria (4 listed)
- any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures;
- parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form.
- any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures;
- parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Bulbar function - Changes from baseline
Time frame: Baseline, Visit Month 12, Month 24, and Months 36
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score( Worse) - Max score 6 (Better performance)
Bulbar function
Time frame: Visit Month 6
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score 1( Worse) - Max score 6 (Better performance)
Bulbar function
Time frame: Visit Month 18
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score 1 (Worse) - Max score 6 (Better performance)
Bulbar function
Time frame: Visit Month 30
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score 1( Worse) - Max score 6 (Better performance)
Speech and Communication - Changes from baseline
Time frame: Baseline, Month 12, Month 24, and Months 36
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist: Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63 For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist: Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Speech and Communication
Time frame: Visit Month 6
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist: Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63 For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist: Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/373
Speech and Communication
Time frame: Visit Month 18
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist: Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63 For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist: Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Speech and Communication
Time frame: Visit Month 30
MacArthur-Bates Communicative Development Inventory (MCDI) - Words and Gestures or Words and Sentences For 8-18 month-olds looking at words and gestures, the following min score (worse performance) - max scores (better performance) exist: Phrases understood: 0/28 Vocabulary understood: 0/396 Vocabulary used: 0/396 Early gestures: 0/18 Later gestures: 0/45 Total gestures: 0/63 For 18-30 month-olds looking at words and sentences, the following min score (worse performance) - max scores (better performance) exist: Words produced = 0/680 Irregular words = 0/25 Overregularized words = 0/45 Sentence complexity = 0/37
Speech and Communication - Changes from baseline
Time frame: Baseline, Visit Month 6, Month 12, Month 18, Month 24, Month 30 and Months 36
Peabody Picture Vocabulary Test (PPVT)
Speech and Communication
Time frame: Visit Month 6
Peabody Picture Vocabulary Test (PPVT) Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Speech and Communication
Time frame: Visit Month 18
Peabody Picture Vocabulary Test (PPVT) Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Speech and Communication
Time frame: Visit Month 30
Peabody Picture Vocabulary Test (PPVT) Age-based standard scores (M = 100, SD = 15). Minimum value of normal range is 85, maximum value of normal range is 115, higher score means better outcome.
Speech and Communication - Changes from Baseline
Time frame: Baseline, Month 12, Month 24, and Months 36
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Speech and Communication
Time frame: Visit Month 6
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Speech and Communication
Time frame: Visit Month 18
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Speech and Communication
Time frame: Visit Month 30
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
4 secondary outcomes
Cognitive function - Changes from baseline
Time frame: Baseline, Month 12, Month 24, and Months 36
Cognitive function
Time frame: Visit Month 6
Cognitive function
Time frame: Visit Month 18
Cognitive function
Time frame: Visit Month 30
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 16 Aug 2024.
- Individual participant dataSharing planned: No
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of SMA1, run by Institute of Child Health at 1 site 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 5 inclusion and 4 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 16 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Giovanni Baranello, MD (02079052872, g.baranello@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Bulbar function - Changes from baseline (time frame: Baseline, Visit Month 12, Month 24, and Months 36). The study lists 16 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 16 Aug 2024.