Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Purpose
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.
Condition
- Spinal Muscular Atrophy (SMA)
Eligibility
- Eligible Ages
- All ages
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis. - Appropriate consent/assent has been obtained for participation in the registry
Exclusion Criteria
- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA. Note: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.
Study Design
- Phase
- Study Type
- Observational [Patient Registry]
- Observational Model
- Ecologic or Community
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Prospective observational registry | This is a prospective, multi center, multinational, non-interventional observational registry. |
|
Recruiting Locations
Phoenix, Arizona 85016
Little Rock, Arkansas 72202
Los Angeles, California 90027
Los Angeles, California 90095
Madera, California 93636
Madera, California 93638
Sacramento, California 95817
San Diego, California 92123
Aurora, Colorado 80045
Farmington, Connecticut 06034
New Haven, Connecticut 06510
Fort Myers, Florida 33908
Palmetto Bay, Florida 33157
Indianapolis, Indiana 46202
Iowa City, Iowa 52242-1009
Kansas City, Kansas 66160
Louisville, Kentucky 40202
Minneapolis, Minnesota 55455
Columbia, Missouri 65212
Saint Louis, Missouri 63110
Morristown, New Jersey 07960
Rochester, New York 14642
Stony Brook, New York 11794
Cincinnati, Ohio 45229-3026
Columbus, Ohio 43205
Portland, Oregon 97239-3098
Hershey, Pennsylvania 17033
Pittsburgh, Pennsylvania 15224
Greenville, South Carolina 29615
Memphis, Tennessee 38103
Fort Worth, Texas 76104
Houston, Texas 77030
San Antonio, Texas 78207
Salt Lake City, Utah 84113
Charlottesville, Virginia 22908
Norfolk, Virginia 23507
Richmond, Virginia 23298
Seattle, Washington 98105
Tacoma, Washington 98405
Madison, Wisconsin 53792
Milwaukee, Wisconsin 53226
More Details
- NCT ID
- NCT04174157
- Status
- Recruiting
- Sponsor
- Novartis Pharmaceuticals
Detailed Description
This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice process that a clinician chooses according to their clinical judgement for an SMA patient. Clinical care will not be driven by the protocol. No additional visits or investigations will be performed beyond normal clinical practice. Patients will be followed for 15 years from enrolment or until death, whichever is sooner.