A Patient Centric Motor Neuron Disease Activities of Daily Living Scale

Study Overview
=================
Brief Summary
-----------------
The purpose of this study is to learn about rates of patient-reported disease progression in patients with motor neuron diseases (amyotrophic lateral sclerosis, progressive muscular atrophy, primary lateral sclerosis, hereditary spastic paraplegia) outside the clinical setting, and the patient-reported clinical characteristics that influence this rate of progression. All patients enrolled in CReATe Connect, a Rare Diseases Clinical Research Network (RDCRN) Contact Registry, will be invited via email to participate in this study.

Detailed Description
-----------------
The patient activities of daily living for amyotrophic lateral sclerosis survey (PADL-ALS, Appendix B) is a patient-centric revision of the standard revised ALS functional rating scale used in clinical trials, the ALSFRS-R. The PADL-ALS was developed based on patient interviews, and patient focus groups. The ALSFRS-R is made up of 12 categories detailing various activities of daily living and includes six bulbar-respiratory functions, three upper extremity functions (writing, cutting food, and dressing), and three gross motor functions (walking, climbing, and turning in bed). Each activity is recorded to the closest approximation from a list of five choices, scored 0-4, with the total score ranging from 48 (normal function) to 0 (no function). The PADL-ALS includes questions from the ALSFRS-R, with revisions to make the questions easier to understand. In addition the PADL-ALS contains a question about pain; a question about emotional lability; and a general non-denominational question about faith. The survey will be composed of two parts, the initial survey, and then monthly follow up surveys. The initial survey will include the PADL-ALS with additional questions about symptom onset, date of diagnosis, initial region involved, patient impression of diagnosis, general demographic questions (age, gender, race, ethnicity, education), and medications related to their diagnosis of motor neuron disease. The survey data will be stored by the Rare Diseases Clinical Research Network's Data Management and Coordinating Center (DMCC) at the University of South Florida. Upon conclusion of the study period, the data will be sent to Jeffrey Statland, MD, University of Kansas Medical Center (Study Chair) and Michael Benatar, MD, PhD, University of Miami (CReATe Consortium PI). All data collected will be sent to the database of Genotypes and Phenotypes (dbGaP) to be stored indefinitely.

Official Title
-----------------
A Patient Centric Motor Neuron Disease Activities of Daily Living Scale

Conditions
-----------------
Amyotrophic Lateral Sclerosis, Progressive Muscular Atrophy, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia

Intervention / Treatment
-----------------
* Other: Web-based Survey


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Self-reported diagnosis of motor neuron disease (amyotrophic lateral sclerosis, amyotrophic lateral sclerosis - frontotemporal dementia, primary lateral sclerosis, progressive muscular atrophy, or hereditary spastic paraplegia) Enrolled in CReATe Connect, an RDCRN Contact Registry o Individuals of any age, race, ethnicity, and from any location will be able to participate Participants will need to be able to fill out the survey in English Exclusion Criteria: • Inability to provide informed consent and complete survey

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Web-based Survey|This is a prospective 12-month study of patients with motor neuron disease enrolled in CReATe Connect, an RDCRN Contact Registry.|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| PADL-ALS Survey | The PADL-ALS survey is a revision of the ALSFR-R, which consists of 12 categories detailing various activities of daily living and includes six bulbar-respiratory functions, three upper extremity functions (writing, cutting food, and dressing) and three gross motor functions (walking, climbing, and turning in bed). Each activity is recorded from a list of five choices, scored 0-4, with the total score ranging from 48 (normal function) to 0 (no function). The PADL-ALS includes questions from the ALSFRS-R, with revisions for easier understanding. The PADL-ALS also includes questions about pain, emotional lability and a general non-denominational question about faith. The survey is composed of an initial survey and monthly follow up surveys. The initial survey will include additional questions about symptom onset, date of diagnosis, initial region involved, patient impression of diagnosis, general demographic questions, and medications related to their diagnosis of motor neuron disease. | 12 months | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Amyotrophic Lateral Sclerosis, ALS, motor neuron diseases, Progressive Muscular Atrophy, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia