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 Sex
- 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 Children's Hospital
Phoenix 5308655, Arizona 5551752 85016
Phoenix 5308655, Arizona 5551752 85016
Arkansas Children's Hospital
Little Rock 4119403, Arkansas 4099753 72202
Little Rock 4119403, Arkansas 4099753 72202
Children's Hospital of Los Angeles
Los Angeles 5368361, California 5332921 90027
Los Angeles 5368361, California 5332921 90027
University of California Los Angeles Health
Los Angeles 5368361, California 5332921 90095
Los Angeles 5368361, California 5332921 90095
Valley Children's Healthcare
Madera 5369568, California 5332921 93636
Madera 5369568, California 5332921 93636
Children's Hospital of Orange County
Madera 5369568, California 5332921 93638
Madera 5369568, California 5332921 93638
University of California Davis Health System
Sacramento 5389489, California 5332921 95817
Sacramento 5389489, California 5332921 95817
Rady Children's Hospital San Diego
San Diego 5391811, California 5332921 92123
San Diego 5391811, California 5332921 92123
Children's Hospital Colorado
Aurora 5412347, Colorado 5417618 80045
Aurora 5412347, Colorado 5417618 80045
Connecticut Children's Medical Center
Farmington 4834272, Connecticut 4831725 06034
Farmington 4834272, Connecticut 4831725 06034
Yale-New Haven Health System
New Haven 4839366, Connecticut 4831725 06510
New Haven 4839366, Connecticut 4831725 06510
Golisano Children's Hospital of Southwest Florida
Fort Myers 4155995, Florida 4155751 33908
Fort Myers 4155995, Florida 4155751 33908
Jackson South Medical Center
Palmetto Bay 4167634, Florida 4155751 33157
Palmetto Bay 4167634, Florida 4155751 33157
Indiana University Health University Hospital (IUHUH)
Indianapolis 4259418, Indiana 4921868 46202
Indianapolis 4259418, Indiana 4921868 46202
University of Iowa
Iowa City 4862034, Iowa 4862182 52242-1009
Iowa City 4862034, Iowa 4862182 52242-1009
University of Kansas Medical Center
Kansas City 4273837, Kansas 4273857 66160
Kansas City 4273837, Kansas 4273857 66160
University of Louisville
Louisville 4299276, Kentucky 6254925 40202
Louisville 4299276, Kentucky 6254925 40202
University of Minnesota
Minneapolis 5037649, Minnesota 5037779 55455
Minneapolis 5037649, Minnesota 5037779 55455
University of Missouri Health System
Columbia 4381982, Missouri 4398678 65212
Columbia 4381982, Missouri 4398678 65212
Washington University School of Medicine in St. Louis
St Louis 4407066, Missouri 4398678 63110
St Louis 4407066, Missouri 4398678 63110
Atlantic Health System
Morristown 5101427, New Jersey 5101760 07960
Morristown 5101427, New Jersey 5101760 07960
University of Rochester Medical Center
Rochester 5134086, New York 5128638 14642
Rochester 5134086, New York 5128638 14642
The State University of New York
Stony Brook 5139865, New York 5128638 11794
Stony Brook 5139865, New York 5128638 11794
Duke Health
Durham 4464368, North Carolina 4482348 27705
Durham 4464368, North Carolina 4482348 27705
Cincinnati Children's Hospital Medical Center
Cincinnati 4508722, Ohio 5165418 45229-3026
Cincinnati 4508722, Ohio 5165418 45229-3026
Nationwide Children's Hospital
Columbus 4509177, Ohio 5165418 43205
Columbus 4509177, Ohio 5165418 43205
Oregon Health and Science University
Portland 5746545, Oregon 5744337 97239-3098
Portland 5746545, Oregon 5744337 97239-3098
Penn State Hershey
Hershey 5193342, Pennsylvania 6254927 17033
Hershey 5193342, Pennsylvania 6254927 17033
University of Pittsburgh Medical Center
Pittsburgh 5206379, Pennsylvania 6254927 15224
Pittsburgh 5206379, Pennsylvania 6254927 15224
Prisma Health
Greenville 4580543, South Carolina 4597040 29615
Greenville 4580543, South Carolina 4597040 29615
Methodist Le Bonheur Healthcare
Memphis 4641239, Tennessee 4662168 38103
Memphis 4641239, Tennessee 4662168 38103
Cook Children's
Fort Worth 4691930, Texas 4736286 76104
Fort Worth 4691930, Texas 4736286 76104
Texas Children's Hospital
Houston 4699066, Texas 4736286 77030
Houston 4699066, Texas 4736286 77030
CHRISTUS Health
San Antonio 4726206, Texas 4736286 78207
San Antonio 4726206, Texas 4736286 78207
University of Utah
Salt Lake City 5780993, Utah 5549030 84113
Salt Lake City 5780993, Utah 5549030 84113
University of Virginia Health System
Charlottesville 4752031, Virginia 6254928 22908
Charlottesville 4752031, Virginia 6254928 22908
Children's Hospital of The King's Daughters
Norfolk 4776222, Virginia 6254928 23507
Norfolk 4776222, Virginia 6254928 23507
Virginia Commonwealth University Health System
Richmond 4781708, Virginia 6254928 23298
Richmond 4781708, Virginia 6254928 23298
Seattle Children's
Seattle 5809844, Washington 5815135 98105
Seattle 5809844, Washington 5815135 98105
MultiCare Health System
Tacoma 5812944, Washington 5815135 98405
Tacoma 5812944, Washington 5815135 98405
University of Wisconsin
Madison 5261457, Wisconsin 5279468 53792
Madison 5261457, Wisconsin 5279468 53792
Children's Hospital of Wisconsin
Milwaukee 5263045, Wisconsin 5279468 53226
Milwaukee 5263045, Wisconsin 5279468 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.