Palliative Care in Spinal Muscular Atrophy (SMA) 1

NCT ID: NCT01862042

Last Updated: 2025-09-11

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 39 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2012-06-30
• Study Completion Date: 2018-06-11

Brief Summary

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

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.

Conditions

Spinal Muscular Atrophy 1

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: SUPPORTIVE_CARE
• Blinding Strategy: NONE

Study Groups

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.

Group Type: OTHER

Follow-up diary and questionnaire

Intervention Type: 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.

Interventions

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.

Intervention Type: OTHER

Other Intervention Names

Supportive and Palliative care

Eligibility Criteria

Inclusion Criteria

• SMA type 1 under 1 an
• Genetic confirmation

Exclusion Criteria

• No genetic confirmation
• SMA type 1 over 1 year

• Minimum Eligible Age: 1 Day
• Maximum Eligible Age: 1 Year
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Isabelle Desguerre, MD, PhD

Role: STUDY_CHAIR

Necker Hospital

Locations

Necker Hospital

Paris, , France

Countries

France

References

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.

Reference Type: BACKGROUND

PMID: 32133329 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 6798568 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 19070490 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 19819869 (View on PubMed)

Other Identifiers

2012-A00024-39

Identifier Type: REGISTRY

Identifier Source: secondary_id

P110135

Identifier Type: -

Identifier Source: org_study_id