Palliative Care in Spinal Muscular Atrophy (SMA) 1

Spinal Muscular Atrophy 1 Clinical Trial

— ASI1  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01862042
• Other study ID #: P110135
• Secondary ID: 2012-A00024-39
• Status: Completed
• Phase: N/A
• Start date: June 2012
• Est. completion date: June 11, 2018

Study information

• Verified date: June 2019
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 39
• Est. completion date: June 11, 2018
• Est. primary completion date: June 11, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 1 Year

Eligibility

Inclusion Criteria:

• SMA type 1 under 1 an

• Genetic confirmation

Exclusion Criteria:

• No genetic confirmation

• SMA type 1 over 1 year

Related Conditions & MeSH terms

• Atrophy
• Muscular Atrophy
• Muscular Atrophy, Spinal
• Spinal Muscular Atrophy 1

Intervention

Other:
• 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.

Locations

Country	Name	City	State
France	Necker Hospital	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

References & Publications (3)

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. — View Citation

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. Review. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	%O2	Quantitative evaluation of care : oxygen therapy and Invasive ventilation	until 2 years
Secondary	Qualitative evaluation of the practices of care	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.	until 2 years
Secondary	Evaluation of nutritional status	Quantitative evaluation of care : nutritional status and enteral nutrition	until 2 years
Secondary	Evaluation of orthopedic facilities	Quantitative evaluation of care : kinesitherapy and orthopedic facility	until 2 years
Secondary	Evaluation of comfort	quantitative evaluation of care : criterion for pain analgesics and sedatives care	until 2 years