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

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Spinal Muscular Atrophy 1

Treatments: Other: Follow-up diary and questionnaire

Study type: Interventional

Funder types: Other

Identifiers

NCT01862042

P110135

2012-A00024-39 (Registry Identifier)

Details and patient eligibility

About

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

Full 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.

Enrollment: 39 patients

Sex: All

Ages: 1 day to 1 year old

Volunteers: No Healthy Volunteers

Inclusion criteria

• SMA type 1 under 1 an
• Genetic confirmation

Exclusion criteria

• No genetic confirmation
• SMA type 1 over 1 year

Trial design

Primary purpose: Supportive Care

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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39 participants in 1 patient group

Supportive and Palliative care

Other group

Description:

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.

Treatment:

Other: Follow-up diary and questionnaire