Clinical trial NCT01862042: Palliative Care in Spinal Muscular Atrophy (SMA) 1
Official title: Evaluation of Palliative and Supportive Care for Spinal Muscular Atrophy (SMA) Type 1 Patients
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Spinal Muscular Atrophy 1
Keywords: Spinal Muscular Atrophy (SMA) type 1
Supportive care
Palliative care
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2013-05-24
Enrollment: 39
Sex: ALL
Minimum age (years): 1
Maximum age (years): 1
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: SUPPORTIVE_CARE

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.

Eligibility criteria: Inclusion Criteria:

* SMA type 1 under 1 an
* Genetic confirmation

Exclusion Criteria:

* No genetic confirmation
* SMA type 1 over 1 year

Primary outcomes:
measure: %O2
timeFrame: until 2 years
Secondary outcomes:
measure: Qualitative evaluation of the practices of care
timeFrame: until 2 years
measure: Evaluation of nutritional status
timeFrame: until 2 years
measure: Evaluation of orthopedic facilities
timeFrame: until 2 years
measure: Evaluation of comfort
timeFrame: until 2 years
Other outcomes:
Locations:
city: Paris
country: France
facility: Necker Hospital
Study officials:
affiliation: Necker Hospital
name: Isabelle Desguerre, MD, PhD
role: STUDY_CHAIR
References:
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. doi: 10.1073/pnas.79.1.175.
citation: 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.
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.
citation: 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.