Palliative Care in Spinal Muscular Atrophy (SMA) 1

Study Overview
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Brief Summary
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The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.

Detailed Description
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Spinal Muscular Atrophy Type I (SMA I) is the most severe form of SMA. It presents in infancy and death occurs by 2 years. There is actually no curative treatment for this pathology. Support and help must be provided from the time of presentation till death and usually this period is quite short, about a couple of months. Variations in medical practice have be seen, depending on the medical experience and sometimes coupled with differences in family resources and values. The aim of the study is to evaluate the needs of the patients and their families, the medical practices, and to describe a cohort of SMA type 1 patients with the natural history of this disease. For this, a follow-up diary will be done, and this diary will be completed by the families and the different practitioners working with the patient. Will be noted in it : physical signs, all therapeutic choices and actions, evaluation of the pain and treatments. A special part of this follow-up diary will be completed by the medical doctors, after the death of the patient, with all the medication used at time of death and the conditions of the death. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist. This questionnaire will estimate the benefice of the follow-up diary, and the improvements to give in the diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in SMA type 1.

Official Title
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Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients

Conditions
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Spinal Muscular Atrophy 1

Intervention / Treatment
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* Other: Follow-up diary and questionnaire


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: SMA type 1 under 1 an Genetic confirmation Exclusion Criteria: No genetic confirmation SMA type 1 over 1 year

Ages Eligible for Study
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Minimum Age: 1 Day
Maximum Age: 1 Year

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Supportive Care
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Supportive and Palliative care<br>A follow-up diary will be completed by the families and the different practitioners working with the patient. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist. | Other: Follow-up diary and questionnaire<br>* A follow-up diary will be completed by the families and the different practitioners working with the patient. One year after the death of the patient, a questionnaire will be proposed to the parents of the child by a psychologist.<br>* Other names: Supportive and Palliative care;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| %O2 | Quantitative evaluation of care : oxygen therapy and Invasive ventilation | until 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Qualitative evaluation of the practices of care | Analysis of the semi-structured questionnaire completed remotely by the methods of analysis semi-qualitative. Identification of the principal challenges faced by parents and satisfaction criteria or non-face to the proposed solutions. | until 2 years | 
| Evaluation of nutritional status | Quantitative evaluation of care : nutritional status and enteral nutrition | until 2 years | 
| Evaluation of orthopedic facilities | Quantitative evaluation of care : kinesitherapy and orthopedic facility | until 2 years | 
| Evaluation of comfort | quantitative evaluation of care : criterion for pain analgesics and sedatives care | until 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Spinal Muscular Atrophy (SMA) type 1, Supportive care, Palliative care