Palliative Care in Spinal Muscular Atrophy (SMA) 1 (ASI1)

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

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

Study Overview

• Status: Completed
• Conditions: Spinal Muscular Atrophy 1
• Intervention / Treatment: Other: Follow-up diary and questionnaire

Detailed Description

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.

• Study Type: Interventional
• Enrollment (Actual): 39
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Necker Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day to 1 year (Child)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• SMA type 1 under 1 an
• Genetic confirmation

Exclusion Criteria:

• No genetic confirmation
• SMA type 1 over 1 year

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Supportive and Palliative care; 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; 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 Names: Supportive and Palliative care

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: Unité de Recherche Clinique Necker Cochin, France
• Investigators: Study Chair: Isabelle Desguerre, MD, PhD, Necker Hospital

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2012
• Primary Completion (Actual): June 11, 2018
• Study Completion (Actual): June 11, 2018

Study Registration Dates

• First Submitted: July 20, 2012
• First Submitted That Met QC Criteria: May 22, 2013
• First Posted (Estimated): May 24, 2013

Study Record Updates

• Last Update Posted (Estimated): September 11, 2025
• Last Update Submitted That Met QC Criteria: September 5, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Palliative care; Supportive care; Spinal Muscular Atrophy (SMA) type 1
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Spinal Cord Diseases; Motor Neuron Disease; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Therapeutics; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Patient Care; Health Services; Health Care Facilities Workforce and Services; Palliative Care; Surveys and Questionnaires
• Other Study ID Numbers: P110135; 2012-A00024-39 (Registry Identifier: ID-RCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO