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| ID | Type | Description | Link |
|---|---|---|---|
| 2012-A00024-39 | Registry Identifier | ID-RCB |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Supportive and Palliative care | Other | 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. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Follow-up diary and questionnaire | Other | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| %O2 | Quantitative evaluation of care : oxygen therapy and Invasive ventilation | until 2 years |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Isabelle Desguerre, MD, PhD | Necker Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Necker Hospital | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 6798568 | Background | Ziegler HK, Unanue ER. Decrease in macrophage antigen catabolism caused by ammonia and chloroquine is associated with inhibition of antigen presentation to T cells. Proc Natl Acad Sci U S A. 1982 Jan;79(1):175-8. doi: 10.1073/pnas.79.1.175. | |
| 19070490 | Background | Kaufmann P, Greiss C, Brown J. Survival in SMA type 1. Neuromuscul Disord. 2009 Jan;19(1):76; author reply 76. doi: 10.1016/j.nmd.2008.10.010. Epub 2008 Dec 12. No abstract available. |
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| ID | Term |
|---|---|
| D014897 | Spinal Muscular Atrophies of Childhood |
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| D010166 | Palliative Care |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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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 |
| 19819869 | Background | Roper H, Quinlivan R; Workshop Participants. Implementation of "the consensus statement for the standard of care in spinal muscular atrophy" when applied to infants with severe type 1 SMA in the UK. Arch Dis Child. 2010 Oct;95(10):845-9. doi: 10.1136/adc.2009.166512. Epub 2009 Oct 8. |
| 32133329 | Result | Hully M, Barnerias C, Chabalier D, Le Guen S, Germa V, Deladriere E, Vanhulle C, Cuisset JM, Chabrol B, Cances C, Vuillerot C, Espil C, Mayer M, Nougues MC, Sabouraud P, Lefranc J, Laugel V, Rivier F, Louvier UW, Durigneux J, Napuri S, Sarret C, Renouil M, Masurel A, Viallard ML, Desguerre I. Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports. Front Pediatr. 2020 Feb 18;8:4. doi: 10.3389/fped.2020.00004. eCollection 2020. |
| D019636 | Neurodegenerative Diseases |
| D016472 | Motor Neuron Disease |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D005791 | Patient Care |
| D013812 | Therapeutics |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |