Proximal spinal muscular atrophy type 1

Last reviewed

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ORPHA:83330OMIM:253300G12.0
Who is this for?
Show terms as
2Active trials11Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Jun 2025Test of Aquatic Mobility of SMA Infants

Assistance Publique - Hôpitaux de Paris — NA

TrialRECRUITING
Mar 2024Exploring Bulbar Function, Speech And Communication Development in SMA Type 1

Institute of Child Health

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Proximal spinal muscular atrophy type 1.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
N/A1 trial
Test of Aquatic Mobility of SMA Infants
N/A
Actively Recruiting
PI: Susana Quijano-Roy, MD, PhD (Paediatric neurological and intentive care unity, ) · Sites: Garches
Other1 trial
Exploring Bulbar Function, Speech And Communication Development in SMA Type 1
Actively Recruiting
· Sites: London · Age: 018 yrs

Specialists

11 foundView all specialists →
JM
Jerry R Mendell, MD
COLUMBUS, OH
Specialist
PI on 4 active trials
CP
Chiara Marini-Bettolo, MD, PhD
Newcastle upon Tyne
Specialist

Rare Disease Specialist

PI on 3 active trials
OP
Otávio Berwanger, PhD
Buenos Aires, Buenos Aires F.D.
Specialist

Rare Disease Specialist

PI on 3 active trials
SP
Susana QUIJANO-ROY, MD, PhD
Specialist
PI on 3 active trials
SM
Sandra P Reyna, M.D.
SAN ANTONIO, TX
Specialist
PI on 1 active trial
KD
Kun Sun, Doctor
Specialist
PI on 1 active trial
KM
Kathryn Swoboda, M.D.
SACRAMENTO, CA
Specialist
PI on 1 active trial
HP
Henrique Fonseca, PhD
Specialist
PI on 1 active trial
YD
Yongguo Yu, Doctor
Specialist
PI on 1 active trial
TP
Tatiana Foroud, PhD
Specialist
PI on 1 active trial
VM
Viviana Marchi
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Proximal spinal muscular atrophy type 1.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Proximal spinal muscular atrophy type 1

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Proximal spinal muscular atrophy type 1

Are there clinical trials for Proximal spinal muscular atrophy type 1?

Yes — 2 recruiting clinical trials are currently listed for Proximal spinal muscular atrophy type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Proximal spinal muscular atrophy type 1?

11 specialists and care centers treating Proximal spinal muscular atrophy type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.