Ignite Creation Date:
2024-05-06 @ 7:20 PM
Last Modification Date:
2024-10-26 @ 3:05 PM
Study NCT ID:
NCT05976958
Status:
RECRUITING
Last Update Posted:
2023-08-04
First Post:
2023-07-18
Brief Title:
Utility and Validations Study of a Smartphone Application for Periodic Paralysis
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
Utility and Validations Study of a Smartphone Application for Periodic Paralysis
Status:
RECRUITING
Status Verified Date:
2023-07
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
RaDiCo-PP
Brief Summary:
Periodic paralyses PP are rare genetic disorders characterized by the occurrence of acute and reversible episodes of muscle weakness Their episodic and highly variable nature makes it difficult to gather the necessary information for monitoring and therapeutic adaptation Patients struggle to accurately report the number duration severity and triggers of their attacks that have occurred between two consultations
Currently there are no validated scales or tools for precisely and standardizedly assessing paralytic episodes Ecological Momentary Assessment EMA is a real-time data collection method used in research historically on paper forms and then on expensive and cumbersome electronic devices PDAs The widespread use of smartphones opens up a new avenue in this field and the use of a mobile application as a real-time data collection tool could be perfectly applicable to these conditions with episodic expression It is hypothesized that systematic and real-time collection of paralysis episode characteristics will improve the quality and accuracy of the collected data thus enhancing clinicians understanding of the condition and patient management Moreover little is known about the medical and social impact of the disease To address these specific issues the investigators propose a study of patients with Periodic Paralyses based on prospective collection of clinical and medico-social data during routine consultations and in real-time during paralytic episodes using a dedicated smartphone application developed by Ad Scientiam in collaboration with Dr Savine Vicart the study coordinator
The primary objective of this study is to evaluate the benefit of a smartphone application specifically developed for patients with periodic paralyses to collect real-time information and improve the quality of collected data regarding the characteristics of paralysis episodes number duration intensity triggering factors location treatment compared to the retrospective questionnaire typically used in consultations
The secondary objective is to assess the impact of this new data collection method on the medical management of patients
Currently there are no validated scales or tools for precisely and standardizedly assessing paralytic episodes Ecological Momentary Assessment EMA is a real-time data collection method used in research historically on paper forms and then on expensive and cumbersome electronic devices PDAs The widespread use of smartphones opens up a new avenue in this field and the use of a mobile application as a real-time data collection tool could be perfectly applicable to these conditions with episodic expression It is hypothesized that systematic and real-time collection of paralysis episode characteristics will improve the quality and accuracy of the collected data thus enhancing clinicians understanding of the condition and patient management Moreover little is known about the medical and social impact of the disease To address these specific issues the investigators propose a study of patients with Periodic Paralyses based on prospective collection of clinical and medico-social data during routine consultations and in real-time during paralytic episodes using a dedicated smartphone application developed by Ad Scientiam in collaboration with Dr Savine Vicart the study coordinator
The primary objective of this study is to evaluate the benefit of a smartphone application specifically developed for patients with periodic paralyses to collect real-time information and improve the quality of collected data regarding the characteristics of paralysis episodes number duration intensity triggering factors location treatment compared to the retrospective questionnaire typically used in consultations
The secondary objective is to assess the impact of this new data collection method on the medical management of patients
Detailed Description:
Primary periodic paralyses PP are rare autosomal dominant disease estimated prevalence of one per 100000 in Europe due to mutations in genes encoding muscle ion channels Symptoms usually start in childhood or adolescence They are characterized by acute and reversible muscle weakness attacks The features of paralytic attacks severity frequency duration triggering factors are highly variable Thus for a given patient the weakness can
Be focal involving only one limb or generalized para or tetraplegia with sometimes some swallowing and breathing difficulties Last minutes hours to several days Occur very episodically eg several months apart and then daily and be spaced again Be triggered by immobility rest after strenuous exercise dietary factors cold stress infections hormonal variations specific medications like corticosteroids
However exposure to these risk factors does not systematically trigger a crisis
After an initial phase dominated by attacks of transient flaccid paralysis a persistent and progressive weakness may occur in addition to the attacks of weakness that is related to a limb-girdle vacuolar myopathy It is unclear whether this is directly related to the frequency and severity of the episodes of weakness
Classically PP are classified as hyperkalemic hyperPP or hypokalemic hypoPP based on changes in blood potassium levels during the access These changes are often subtle and transient making the distinction between the 2 forms difficult If this serum potassium-based classification is clinically useful it is not correlated to the genes identified to be responsible of PP Thus mutations in different genes can lead to a same phenotype and different mutations in a same gene lead to distinct phenotypes
3 genes CACN1AS SCN4A and KCNJ2 have been identified in PP HypoPP is the most common PP Inheritance is autosomal dominant with reduced penetrance in woman Symptoms typically begin in the second decade Attacks of paralysis usually occur on awakening in the night or in the early morning last for hours occasionally days with gradual resolution and are provoked more specifically by rest after exercise and carbohydrate-rich meals Mutations in the alpha subunit of the skeletal muscle calcium channel gene CACN1AS cause most cases 70 Approximatively 10-20 are due to mutations in the voltage-gated sodium channel gene SCN4A So a small number of affected individuals do not have a mutation in these 2 genes and are not linked to these loci HyperPP is due to mutations in SCN4A encoding the alpha subunit of the skeletal muscle voltage- gated sodium channel Onset of episodic weakness is commonly observed earlier than for HypoPP first decade In contrast with HypoPP the attacks frequently occur during the daytime but nocturnal access may happen last few minutes to hours and are mostly triggered by cold rest after exercise and fasting Electrical myotonia is found in 50 off affected individuals but is clinically apparent in less than 20
Andersen-Tawil Syndrome ATS is characterized by the triad often incomplete of PP hypo or hyperPP ventricular arrhythmia and distinctive physical features It is the least common form of PP Mutations in KCNJ2 encoding the inward rectifying potassium channel kir21 have been identified in about two-thirds of patients with ATS
The development of functional electromyographic EMG tests has revolutionized the diagnostic approach for channelopathies in general and for PP in particular These tests are based on an EMG examination that measures the amount of muscles actions potentials CMAPs under conditions that reproduce the conditions of induction of paralytic attacks brief repeated exercises long exercise cooling test It shows two distinct patterns predictive of mutations found by the molecular diagnosis in 85 of cases It is now good practice to perform a functional EMG prior to molecular diagnosis The combination of EMG and molecular diagnosis allows an effective diagnosis of periodic paralysis
Treatment mostly relies on advices such as avoiding triggering factors or dietary recommendations Potassium chloride can be used for acute attack in hypoPP and regular use may reduce its frequency Inhibitors of carbonic acid anhydrase acetazolamide dichlorphenamide are usually helpful in all forms of PP
Thereby diagnosis monitoring and management of PP are complex This justified the labellisation of our team in 2005 in National Channelopathies Reference Center The investigators work at national level in collaboration with the other French Neuromuscular Centres from the filière neuromusculaire and coordinate the national network on channelopathies named RESOCANAUX The investigators collaborate with the international teams from North America USA Canada and Europe Italy Netherlands England grouped within the Muscle Society Group MSG coordinated by Prof Griggs Rochester USA
Our experience with patients and their families led us to the following observations
The collection of information necessary for the patients follow-up and for therapeutic adjustments is complicated by the episodic and highly variable expression of the symptoms At each follow-up visits patients struggle to accurately report the number duration severity and triggering factors of their crises which have occurred within the range of 2 out-patient visits Currently the usual tool of data communication between patients and clinicians is at best patients paper diary It is often perceived as a boring document and therefore fill in compliance is poor Retrospective or generalized responses are to a significant degree inaccurate because of limitations in autobiographical memory whereby respondents must rely on estimation extrapolation and inference strategies that are inherently unreliable Thereby in such cases patients under-report their attacks and clinicians have limited information to recommend the appropriate treatment
The difficulties of locomotion resulting from paralysis and their repetition over time lead to social and economic consequences such as 1 a frequent professional or school absenteeism leading to grade repetitions establishment of remedial classes 2 organization of catch-up sessions for exams in case of absenteeism to the regular session 3 difficulties to deal with job involving physical activity or out-door exposure weather effect leading to job eviction or professional relocation 4 a more complex choice for the socio- professional sector
During paralytic attacks patients are dependent on someone for several hours for most activities of daily life movements hygiene and elimination feeding This impacts strongly caregivers life spouses parents or other even more if there are several patients in the same household Thus caregivers stay at home to take care for their children spouses and their absenteeism adds to the patients ones
Thus it appears crucial to succeed in assessing more accurately both the clinical and medico- economic impacts of these pathologies to improve in the future healthcare and healthcare costs
Currently there is no validated scale or tool to assess paralytic attacks in a precise and standardized way Ecological momentary assessment EMA refers to a collection of methods often used in medicine research by which a participant repeatedly reports on symptoms close in time to experience and in the participants natural environment This collection method has historically been under-utilized as it was performed on imprecise paper-logs that patients filled at home For the last 10-15 years EMA studies migrated to electronic medias PDAs but these 1 require participants to become familiar with and carry a device they would otherwise not carry 2 remain expensive and hard to implement on large-scale studies 3 require programming expertise and 4 oblige to provide a device to each participant The generalization of the Smartphone in the population opens a new avenue of research in the field of EMA because of 1 their lower cost 2 the widespread adoption of phones with increasingly powerful technical capabilities de facto pocket computers 3 peoples tendency to carry their phones everywhere 4 peoples attachment to their phones and 5 context awareness features enabled through sensing and phone-based personnel information In 2013 there were 27 million of smartphone owners in France which corresponds to 50 of the French population aged 11 and over according to the quarterly barometer made by the Mobile Marketing Association France in partnership with comScore GFK and Médiamétrie In 2014 it was sold twice more tablets than laptops 79 million against 37 and more than 17 million Smartphones
The use of a mobile application as a tool for real-time data collection could fit perfectly to the pathologies with episodic expression like periodic paralysis and holds promise for making self- assessmentmonitoring easier
The investigators hypothesize that systematic and prospective data collection of the features of periodic paralytic attacks through a mobile application will improve the quality and precision of the collected data and therefore both clinicians and patients knowledge of the disease and will consequently upgrade the current care of patients
In addition the investigators do not know much about the medico-social and economic impact of the disease
To better tackle these specific issues the investigators propose study of the population Periodic Paralysis followed in the National Channelopathies Reference Center based on a prospective collection of clinical and medico-economic data during follow-up visits scheduled as part of their usual care and in real-time via an EMA smartphone application
Be focal involving only one limb or generalized para or tetraplegia with sometimes some swallowing and breathing difficulties Last minutes hours to several days Occur very episodically eg several months apart and then daily and be spaced again Be triggered by immobility rest after strenuous exercise dietary factors cold stress infections hormonal variations specific medications like corticosteroids
However exposure to these risk factors does not systematically trigger a crisis
After an initial phase dominated by attacks of transient flaccid paralysis a persistent and progressive weakness may occur in addition to the attacks of weakness that is related to a limb-girdle vacuolar myopathy It is unclear whether this is directly related to the frequency and severity of the episodes of weakness
Classically PP are classified as hyperkalemic hyperPP or hypokalemic hypoPP based on changes in blood potassium levels during the access These changes are often subtle and transient making the distinction between the 2 forms difficult If this serum potassium-based classification is clinically useful it is not correlated to the genes identified to be responsible of PP Thus mutations in different genes can lead to a same phenotype and different mutations in a same gene lead to distinct phenotypes
3 genes CACN1AS SCN4A and KCNJ2 have been identified in PP HypoPP is the most common PP Inheritance is autosomal dominant with reduced penetrance in woman Symptoms typically begin in the second decade Attacks of paralysis usually occur on awakening in the night or in the early morning last for hours occasionally days with gradual resolution and are provoked more specifically by rest after exercise and carbohydrate-rich meals Mutations in the alpha subunit of the skeletal muscle calcium channel gene CACN1AS cause most cases 70 Approximatively 10-20 are due to mutations in the voltage-gated sodium channel gene SCN4A So a small number of affected individuals do not have a mutation in these 2 genes and are not linked to these loci HyperPP is due to mutations in SCN4A encoding the alpha subunit of the skeletal muscle voltage- gated sodium channel Onset of episodic weakness is commonly observed earlier than for HypoPP first decade In contrast with HypoPP the attacks frequently occur during the daytime but nocturnal access may happen last few minutes to hours and are mostly triggered by cold rest after exercise and fasting Electrical myotonia is found in 50 off affected individuals but is clinically apparent in less than 20
Andersen-Tawil Syndrome ATS is characterized by the triad often incomplete of PP hypo or hyperPP ventricular arrhythmia and distinctive physical features It is the least common form of PP Mutations in KCNJ2 encoding the inward rectifying potassium channel kir21 have been identified in about two-thirds of patients with ATS
The development of functional electromyographic EMG tests has revolutionized the diagnostic approach for channelopathies in general and for PP in particular These tests are based on an EMG examination that measures the amount of muscles actions potentials CMAPs under conditions that reproduce the conditions of induction of paralytic attacks brief repeated exercises long exercise cooling test It shows two distinct patterns predictive of mutations found by the molecular diagnosis in 85 of cases It is now good practice to perform a functional EMG prior to molecular diagnosis The combination of EMG and molecular diagnosis allows an effective diagnosis of periodic paralysis
Treatment mostly relies on advices such as avoiding triggering factors or dietary recommendations Potassium chloride can be used for acute attack in hypoPP and regular use may reduce its frequency Inhibitors of carbonic acid anhydrase acetazolamide dichlorphenamide are usually helpful in all forms of PP
Thereby diagnosis monitoring and management of PP are complex This justified the labellisation of our team in 2005 in National Channelopathies Reference Center The investigators work at national level in collaboration with the other French Neuromuscular Centres from the filière neuromusculaire and coordinate the national network on channelopathies named RESOCANAUX The investigators collaborate with the international teams from North America USA Canada and Europe Italy Netherlands England grouped within the Muscle Society Group MSG coordinated by Prof Griggs Rochester USA
Our experience with patients and their families led us to the following observations
The collection of information necessary for the patients follow-up and for therapeutic adjustments is complicated by the episodic and highly variable expression of the symptoms At each follow-up visits patients struggle to accurately report the number duration severity and triggering factors of their crises which have occurred within the range of 2 out-patient visits Currently the usual tool of data communication between patients and clinicians is at best patients paper diary It is often perceived as a boring document and therefore fill in compliance is poor Retrospective or generalized responses are to a significant degree inaccurate because of limitations in autobiographical memory whereby respondents must rely on estimation extrapolation and inference strategies that are inherently unreliable Thereby in such cases patients under-report their attacks and clinicians have limited information to recommend the appropriate treatment
The difficulties of locomotion resulting from paralysis and their repetition over time lead to social and economic consequences such as 1 a frequent professional or school absenteeism leading to grade repetitions establishment of remedial classes 2 organization of catch-up sessions for exams in case of absenteeism to the regular session 3 difficulties to deal with job involving physical activity or out-door exposure weather effect leading to job eviction or professional relocation 4 a more complex choice for the socio- professional sector
During paralytic attacks patients are dependent on someone for several hours for most activities of daily life movements hygiene and elimination feeding This impacts strongly caregivers life spouses parents or other even more if there are several patients in the same household Thus caregivers stay at home to take care for their children spouses and their absenteeism adds to the patients ones
Thus it appears crucial to succeed in assessing more accurately both the clinical and medico- economic impacts of these pathologies to improve in the future healthcare and healthcare costs
Currently there is no validated scale or tool to assess paralytic attacks in a precise and standardized way Ecological momentary assessment EMA refers to a collection of methods often used in medicine research by which a participant repeatedly reports on symptoms close in time to experience and in the participants natural environment This collection method has historically been under-utilized as it was performed on imprecise paper-logs that patients filled at home For the last 10-15 years EMA studies migrated to electronic medias PDAs but these 1 require participants to become familiar with and carry a device they would otherwise not carry 2 remain expensive and hard to implement on large-scale studies 3 require programming expertise and 4 oblige to provide a device to each participant The generalization of the Smartphone in the population opens a new avenue of research in the field of EMA because of 1 their lower cost 2 the widespread adoption of phones with increasingly powerful technical capabilities de facto pocket computers 3 peoples tendency to carry their phones everywhere 4 peoples attachment to their phones and 5 context awareness features enabled through sensing and phone-based personnel information In 2013 there were 27 million of smartphone owners in France which corresponds to 50 of the French population aged 11 and over according to the quarterly barometer made by the Mobile Marketing Association France in partnership with comScore GFK and Médiamétrie In 2014 it was sold twice more tablets than laptops 79 million against 37 and more than 17 million Smartphones
The use of a mobile application as a tool for real-time data collection could fit perfectly to the pathologies with episodic expression like periodic paralysis and holds promise for making self- assessmentmonitoring easier
The investigators hypothesize that systematic and prospective data collection of the features of periodic paralytic attacks through a mobile application will improve the quality and precision of the collected data and therefore both clinicians and patients knowledge of the disease and will consequently upgrade the current care of patients
In addition the investigators do not know much about the medico-social and economic impact of the disease
To better tackle these specific issues the investigators propose study of the population Periodic Paralysis followed in the National Channelopathies Reference Center based on a prospective collection of clinical and medico-economic data during follow-up visits scheduled as part of their usual care and in real-time via an EMA smartphone application
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2017-A01827-46 | REGISTRY | ID-RCB | None |