Palliative Care in Spinal Muscular Atrophy (SMA) 1

NCT01862042 | Completed

• 2 other identifiers: P1101352012-A00024-39
• Study Type: interventional
• Target: 39
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Spinal Muscular Atrophy 1

Keywords

Spinal Muscular Atrophy (SMA) type 1; Supportive care; Palliative care

Outcome Measures

Primary Outcomes (1)

• %O2

  Quantitative evaluation of care : oxygen therapy and Invasive ventilation

  until 2 years

Secondary Outcomes (4)

• Qualitative evaluation of the practices of care

  until 2 years

• Evaluation of nutritional status

  until 2 years

• Evaluation of orthopedic facilities

  until 2 years

• Evaluation of comfort

  until 2 years

Study Arms (1)

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.

Other: Follow-up diary and questionnaire

Interventions

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.

Also known as: Supportive and Palliative care

Supportive and Palliative care

Eligibility Criteria

• Age: 1 Day - 1 Year
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• SMA type 1 under 1 an
• Genetic confirmation

You may not qualify if:

• No genetic confirmation
• SMA type 1 over 1 year

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Necker Hospital

Paris, 75015, France

Location

Related Publications (4)

• 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.

  PMID: 32133329 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.

  PMID: 6798568 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.

  PMID: 19070490 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.

  PMID: 19819869 BACKGROUND

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Muscular Atrophy, Spinal

Interventions

Surveys and Questionnaires; Palliative Care

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Patient Care; Therapeutics; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Isabelle Desguerre, MD, PhD

  Necker Hospital

  STUDY CHAIR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 20, 2012
• First Posted: May 24, 2013
• Study Start: June 1, 2012
• Primary Completion: June 11, 2018
• Study Completion: June 11, 2018
• Last Updated: September 11, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)