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Project Cure SMA is a collaborative initiative between Families of SMA and clinical investigators designed to help facilitate the rapid translation of promising new therapies to individuals with SMA. The primary goal of Project Cure SMA is to develop safe and well-tolerated clinical protocols to help identify effective therapies for SMA.

• infants with SMA Type I,
• ages 2 weeks to 9 months at time of enrollment,
• who have clinical features of SMA confirmed by genetic testing.

 Subjects will not be able to participate if

• there is evidence of other organ disease,
• medications intended to treat SMA are being used,
• medications that might interact with VPA are being used, or
• participation in other treatment studies of SMA within the previous 30 days has occurred.

Because travel for infants with severe SMA is often difficult, study site investigators will be looking to enroll subjects who live close to the individual centers.

1. Confirmed diagnosis of 5q SMA through standard genetic testing
2. Ambulatory SMA 3 adults: all subjects must be able to walk independently for at least 30 feet without assistance (i.e., no canes, walkers)
3. Age 18 to 60 years at time of enrollment
4. Interest in participating and the ability to meet the study requirements
5. Women of child bearing age are required to be on birth control or abstain while participating in the study.

1. Non-ambulatory type 3 adults and all type 2 adults
2. Patients with co-existing medical conditions that preclude travel, testing or study medications
3. Patients who have participated in a treatment trial for SMA in the 3 months prior to this trial, or plan on enrolling in any other treatment trial during the duration of this trial.
4. Patients who are, in the investigator’s opinion, mentally or legally incapacitated from providing informed consent for the study, or are otherwise unable to meet study requirements or cooperate reliably with study procedures, especially strength testing.
5. Patients with a need for non-invasive ventilatory support (e.g. BiPAP) for > 12 hours/day
6. Use of medications or supplements which interfere with VPA metabolism and increase the potential risks of the medications, or are hypothesized to have a beneficial effect in SMA animal models or human neuromuscular disorders within 3 months of study enrollment
7. Women who are pregnant or who intend to become pregnant while participating in the research study or who are breastfeeding.

1. Confirmed genetic diagnosis of 5q SMA
2. SMA 2 or non-ambulatory SMA 3: all subjects must be able to sit independently for at least 3 seconds without support
3. Age 2 to 8 years at time of enrollment

Group 3

1. Confirmed genetic diagnosis of 5q SMA
2. SMA subjects (SMA types 2 or 3) who can stand independently without braces or other support for up to 2 seconds, or walk independently
3. Age 3 to 17 years at time of study enrollment
    

Group 1 and 2

1. Need for BiPAP support > 12 hours per day
2. Spinal rod or fixation for scoliosis or anticipated need within six months of enrollment
3. Inability to meet study visit requirements or cooperate reliably with functional testing
4. Coexisting medical conditions that contraindicate travel, testing or study medications
5. Use of medications or supplements which interfere with valproic acid or carnitine metabolism within 3 months of study enrollment.
6. Current use of either VPA or carnitine. If study subject is taking VPA or carnitine then patient must be go through a washout period of 12 weeks before enrollment into the study
7. Body Mass Index > 90th % for age

Group 3

1. Spinal rod or fixation for scoliosis or anticipated need within six months of enrollment
2. Inability to meet study visit requirements or cooperate with functional testing
3. Transaminases, amylase or lipase > 3.0 x normal values, WBC < 3.0 or neutropenia < 1.0, platelets < 100 K, or hematocrit < 30 persisting over a 30 day period.
4. Coexisting medical conditions that contraindicate travel, testing or study medications
5. Use of medications or supplements which interfere with valproic acid or carnitine metabolism within 3 months of study enrollment.
6. Current use of either VPA or carnitine. If study subject is taking VPA or carnitine then patient must be go through a washout period of 12 weeks before enrollment in the study.
7. Body Mass Index > 90th % for age
8. Pregnant women/girls, or those intending to try to become pregnant during the course of the study.