Palliative Care in Spinal Muscular Atrophy (SMA) 1

Not Applicable

Completed

• Conditions: Spinal Muscular Atrophy 1
• Interventions: Other: Follow-up diary and questionnaire

• Registration Number: NCT01862042
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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.

Study Timeline

• Study Start: 2012-06
• Study First Submitted: 2012-07-20
• Study First Submitted QC: 2013-05-22
• Study First Posted: 2013-05-24
• Primary Completion: 2018-06-11
• Study Completion: 2018-06-11
• Status Verified: 2019-06
• Last Update Submitted: 2019-07-01
• Last Update Posted: 2019-07-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 39

Inclusion Criteria

• SMA type 1 under 1 an
• Genetic confirmation

Exclusion Criteria

• No genetic confirmation
• SMA type 1 over 1 year

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Supportive and Palliative care	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.

Primary Outcome Measures

Name	Time	Method
%O2	until 2 years	Quantitative evaluation of care : oxygen therapy and Invasive ventilation

Secondary Outcome Measures

Name	Time	Method
Qualitative evaluation of the practices of care	until 2 years	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.
Evaluation of nutritional status	until 2 years	Quantitative evaluation of care : nutritional status and enteral nutrition
Evaluation of orthopedic facilities	until 2 years	Quantitative evaluation of care : kinesitherapy and orthopedic facility
Evaluation of comfort	until 2 years	quantitative evaluation of care : criterion for pain analgesics and sedatives care

Trial Locations

Locations (1)

Necker Hospital; 🇫🇷 Paris, France