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Completed

NCT Number: NCT01862042

Palliative Care in Spinal Muscular Atrophy (SMA) 1

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

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Key information

Conditions

Spinal Muscular Atrophy 1 Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases Spinal Muscular Atrophies of Childhood

Age range

1 day–1 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Necker Hospital

Paris, 75015, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • SMA type 1 under 1 an
  • Genetic confirmation

Exclusion criteria

  • No genetic confirmation
  • SMA type 1 over 1 year

Treatment and study plan

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.

Other names: Supportive and Palliative care

Primary outcomes

  1. %O2

    Time frame: until 2 years

    Quantitative evaluation of care : oxygen therapy and Invasive ventilation

Secondary outcomes

  1. Qualitative evaluation of the practices of care

    Time frame: 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.

  2. Evaluation of nutritional status

    Time frame: until 2 years

    Quantitative evaluation of care : nutritional status and enteral nutrition

  3. Evaluation of orthopedic facilities

    Time frame: until 2 years

    Quantitative evaluation of care : kinesitherapy and orthopedic facility

  4. Evaluation of comfort

    Time frame: until 2 years

    quantitative evaluation of care : criterion for pain analgesics and sedatives care

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

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

Acronym: ASI1

Important dates

Study start
2012
Primary completion
2018
Study completion
2018
First posted
May 24, 2013
Registry last updated
Sep 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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